Help 4 HD Live!: Recent Episodes
Help4HD
Welcome to Help 4 HD Live! We are proud to broadcast credible information and education to the Huntington's disease community on a weekly basis. Help 4 HD Live! broadcasts every week providing vital information and inspiration to our Huntington's community. We have been blessed to interview many of our JHD/HD researchers, medical professionals, care providers and the pharmaceutical industry for six years. Join our Hosts, Katie Jackson each week for incredible programming and don’t forget to share this channel with your colleagues, family and friends. Help 4 HD Live! is made possible through an education grant from Teva Pharmaceuticals and the Griffin Foundation. Thanks for tuning in! Help 4 HD International Inc. Please consult with you own physician for advice about any medical recommendation.
Helpful information on being prepared for a disaster: https://www.ready.gov/disabilityInformation about FEMA: https://www.disasterassistance.gov/
For more information about the UF Fixel Institute located in Gainesville, FL, please click here.
"Bri" joins me to discuss what it's like being gene-positive for HD and a scientist doing HD research.
Please contact Jenna Heilman if you're interested in learning more about the HDYO Ambassadors program.
As a way to wrap up HD Awareness Month, let's #LightItUp4HD on social media tomorrow! Share a video or photo of you with blue and/or purple glow sticks tomorrow. Make sure to use #LightItUp4HDandJHD and/or #2024LightItUp4HD. If you want, also share why you're lighting it up for HD/JHD.
Thom Hart is the Director of Outreach with the Critical Path Institute (C-Path), which is a nonprofit created by the FDA to "improve the drug development process. It operates as a neutral third party to enable scientists from the regulated industry and international regulatory agencies to work together with scientists from academia and patient groups to improve the drug development process. (Wikipedia)" You can visit their website here: https://c-path.org/If you are interested in contacting Thom directly, please reach out to Lauren Holder at lauren@help4hd.org, and she will connect you.
I recently attended the World Orphan Drug Congress in Boston, MA. The audio for this episode is from my YouTube video that you can find here: Dying to Live
Meredith Patterson is a performing artist, author, and producer whose family was impacted by Huntington's Disease. To learn more about her, please visit her website: https://meredithpatterson.com/She also has a podcast called "Confessions of an Actress". This week on her podcast, she shared about Huntington's Disease as a way to raise awareness. You can check out the episode here: https://podcasts.apple.com/us/podcast/confessions-of-an-actress/id1456371818?i=1000652286159
Piere Rodriguez-Aliaga, PhD, is a young investigator whose current HD research is funded by the Hereditary Disease Foundation. He is using a new Nobel Prize-winning technology called Optical Tweezers to study one huntingtin molecule at a time, which allows access to structural information about pathogenic and non-pathogenic huntingtin variants with unprecedented detail.Please visit the Hereditary Disease Foundation website for more information.
Jennifer Petrillo Billet PhD is an Executive Director and Program Lead for investigational dalzanemdor, or SAGE-718, at Sage Therapeutics. She is responsible for driving the global development strategy, including delivery of the right evidence for key stakeholders including regulators, payers, and providers, and patients. Dalzanemdor is being evaluated for indications in Huntington’s Disease, Alzheimer’s Disease, and Cognitive Impairment in Parkinson’s Disease. Jennifer has 20 years of deep expertise in the measurement science of Clinical Outcomes Assessments (COAs) and significant experience in all phases of drug development. Jennifer received her Bachelors in Economics at Virginia Tech, and her PhD from the London School of Hygiene and Tropical Medicine (LSHTM). She has published and presented extensively on health economics and outcomes research topics, and clinical research, across a range of leading journals and conferences.
Please visit the Factor-H website for more information.Please also tune in to the Factor-H YouTube Channel on Saturday 3/23/2024 at 12 pm EST for HD Gratitude Day events in Venezuela.
Samantha and I got to participate in a focus group together. Here our thoughts about research and more!!
Happy 1st anniversary of the #HDUncut Series on #Help4HDLive! This show is exactly why I came up with the series in the first place. John Howard has Huntington's Disease. He's also a very talented poet. On this show, he shares some new poetry with the HD Community.
Happy Valentine's Day! Join Erika Boulavsky from HD Reach and Lauren Holder from Help 4 HD in their conversations with Dave and Susie Hodgson about their Layers of Love. Dave and Susie's unique story talks about caring for both of their spouses with HD, how they found each other, and how they continue to support one another while caring for their kids with HD.To watch more webinars from the "Rare Topics for a Rare Disease" Series, please visit HD Reach's website here.
To follow Tanita Allen, please visit her website: https://tanitaallen.com/Here is the link to purchase a copy of Tanita Allen's book: We Exist
If you'd like to follow Charlotte on social media, please visit her website: https://linktr.ee/thehdhunInstagram handle - @thehdhunTikTok - Click Here
Jamie L. Hamilton, PhD, is the Director of Clinical Outcome Assessments at CHDI. She led the HD Charge study, which focused on the indirect costs associated with being affected by Huntington's Disease.
If you'd like to follow Christy on social media, you can find her here: Facebook - www.facebook.com/ChristyDearienInstagram - @christydearien
If you would like to send your resources and tips and tricks to Anna for our new database, please go to the Help 4 HD website - www.help4hd.org - go to Contact Us and submit. Anna is regularly checking submissions through the website. You can also send it directly to her email at anna@help4hd.org
For more information about all that Help 4 HD is doing, please visit the website - www.help4hd.org
Dr. Katja Obieglo joins Lauren to talk about the research Vico Therapeutics is doing. To learn more, please visit their website here.
If you'd like to learn more about HD-CAB, including how to become a member, please visit the website here.You can also contact Jenna Heilman at jenna@hdyo.org.
Rita Gandhy is a movement disorders neurologist and comes with over 4 years of experience at Roche/Genentech. Prior to her current work in USMA, Rita led the Study Review Team for a planned tominersen study in late onset Huntington's Disease, being responsible for developing the protocol and study set up. Before USMA, Rita was in the Product Development OMNI LEAD safety group as Safety Medical Director leading the safety strategy for the initiation and execution of a number of therapeutic areas including the anti-tau molecule semorinemab. Rita obtained her undergraduate degree in theology and biology from University of Rochester, and her Medical Degree at Southern Illinois University School of Medicine. She completed her internship at Illinois Advocate Masonic hospital in Chicago, a year of Physical Medicine and Rehabilitation at Stanford and neurology residency at the University of California, San Diego. She has an additional neurology subspecialty training in movement disorders from Georgetown University. She subsequently practiced clinical neurology, as the Director of the Movement Disorder program at Marshall University in Huntington, West Virginia. There she developed a comprehensive movement program including Deep Brain Stimulation and other treatment modalities including comprehensive inpatient and outpatient care for Parkinson's disease and Huntington's disease patients.To find out if you can join the clinical trial, or for more information, please speak to your doctor today or contact the Genentech Trial Information Support Line (TISL) at 888-662-6728 (Monday - Friday, 5am - 5pm PT). Or https://clinicaltrials.gov/ trial #NCT05686551
Kelly Clark is a caregiver for her husband. They are currently using photobiomodulation therapy on her husband to help with his HD.
For more information about the research being done, please visit Vielight at vielight.com
Please add Kelly as a referral if you purchase from Vielight!
Kelly Clark. – kanclark@gmail.com
For the PowerPoint Kelly was showing me, please click here.
Kathryn Jordan is a model, writer and HD advocate who currently lives in Toronto. She has a blog she uses for awareness, you can visit it at this link: www.popularizementalhealth.com
You can also follow Kathryn on Instagram - @vintagebabetoronto
Erika Boulavsky of HD Reach and I sat down with Jeff Marsocci to talk about when life gets messy - we talked about divorce, disability and so much more! This webinar is a great resource.
To watch all of the Rare Topics for a Rare Disease webinars, please visit the HD Reach website here. You can also view this webinar on YouTube at https://www.youtube.com/watch?v=KxIwOU6m7K8.
This project was inspired by increasing evidence that bugs inhabiting the gut influence brain function and dysfunction, and that the gut microbial community is abnormal in mice and people with Huntington’s disease. It has also been shown that the imbalanced gut bacterial profile observed in individuals carrying the HD gene is associated with lower cognitive performance and poorer clinical outcomes. In HD mice, Dr. Hannan’s lab recently showed that this phenomenon appears even before motor symptoms. However, they do not yet fully understand the mechanisms mediating this imbalance nor do they know whether an intervention that returns the community of bugs towards a normal profile might be therapeutic. This project will address these important questions in HD mice by using environmental, microbial and pharmacological interventions targeting the gut microbial imbalance and hopefully ameliorating brain dysfunction. This project may facilitate future development of new treatments for people with HD.
To participate in the FOCUS Online study, please visit the following link: https://forms.office.com/r/eXfRT1ZanZ.
Charlene Smith bio: "I am a project scientist in the lab of Dr Leslie Thompson at UC Irvine. I have worked here for 8 years studying Huntington's disease using HD patient derived stem cells. During that time I have received funding from the Hereditary Disease Foundation and the Huntington's Disease Society of America. I graduated in 2015 with my PhD from Cardiff University and wanted to pursue research in Huntington's disease."
Gong-Her Wu bio: "In 2015, I proudly earned my Ph.D. from Tsing Hua University, marking a significant milestone in my academic journey. Subsequently, I had the privilege of joining the esteemed lab of Dr. Wah Chiu, where I expanded my expertise further and contributed to cutting-edge research. From 2019 to 2023, I was fortunate to receive support from the Hereditary Disease Foundation (HDF), a valuable recognition of my work's importance and potential impact.
Now, I am a research scientist at Stanford University, working in the esteemed lab of Dr. Wah Chiu. Over the past six years, my focus has been on advancing the field of cryo-electron tomography (cryo-ET) and its application in studying Huntington's disease. I have employed various model systems to achieve this, including yeast, induced pluripotent stem cells (iPSCs), primary neurons, C. elegans, and mouse brains."
Link to research: https://www.nature.com/articles/s41467-023-36096-w
Link to Hereditary Disease Foundation: https://www.hdfoundation.org/
Kevin's journey with WeHaveAFace began over a decade ago when he joined as a regional advocate. Recognizing the urgent need for advocacy in the HD community, he immersed himself in the organization's mission to raise awareness and support for those affected by the disease. In 2015, his commitment and expertise led him to assume the position of Patient Advocate, where he worked tirelessly to ensure that HD patients received the care and attention they deserved.
Driven by his passion for advocacy and the desire to make a difference, Kevin ultimately ascended to the role of President within WeHaveAFace Canada. In this capacity, he continues to lead the organization with unwavering dedication and a clear vision. Drawing inspiration from James Valvano, he embodies Valvano's spirit of relentless pursuit in furthering Project Change and pushing for positive change in the HD community.
Please visit www.wehaveaface.org/change for more information.
For more information about Dr. Benjamin Gilmer and his book, please visit his website: https://benjamingilmer.com/Please send Vince a letter or note if you can. He is feeling very down now and any support with your words would be very helpful to him:Dr. Vince Gilmer # 1190607, MCTC, 110 Wright St, Marion VA. 24354
To learn more about the Institute for Gene Therapies, please visit their website: www.gene-therapies.orgCongressman Erik Paulsen (MN-3) served from 2009 to 2019 as a leading member on the House Ways and Means Committee, which has jurisdiction over healthcare, economic, and trade policy. Erik currently serves as Chairman of the Institute for Gene Therapies, a 501(c)(4) that brings together experts across the healthcare system to advocate for a modernized policy framework that encourages transformative innovations, promotes patient access, and codifies transparent reimbursement practices.As a Member of Congress, Erik was the Chairman of the Joint Economic Committee focusing on innovation, entrepreneurship, digital trade, and other key economic issues. Erik also served as Co-Chair of the House Medical Technology Caucus and is a passionate advocate for innovative life science and medical technologies, the benefits they provide to patients, and the hundreds of thousands of jobs they support.In addition, Erik was a member of the Deputy Whip Team and Co-Chaired the Digital Trade Caucus and the Transatlantic Trade and Investment Partnership Caucus to promote international trade.Prior to his service in Congress, Erik was a member of the Minnesota State Legislature, where he served as House Majority Leader. Erik has over 16 years of business experience, including working as a business analyst at Target Corporation. He received his bachelor’s degree in mathematics from St. Olaf College and resides in Eden Prairie with his wife and their four daughters.
If you are interested in learning more about what we are talking about, please send an email to Lauren at lauren@help4hd.org
You can purchase the book here.To learn more about Erin Paterson, please visit her website here.
HD Uncut with Katrina Hamel - Gene-negative, caregiver for her mother and brother, and CFO of Help 4 HD International - comes on to talk to us uncut and uncensored about her HD journey.
Dr. Rachel Harding, Dr. Leora Fox, and Dr. Sarah Hernandez join me to discuss genetic modifiers of HD.
For more information about HD Reach and the upcoming education day and webinars, please visit www.hdreach.org
Nichole Goble (she/her) is the current Director of Community Initiatives at Caregiver Action Network. She has been with the organization since 2017. As part of her role as Director of Community Initiatives, she manages activities/programs with non-funding community partners and moderates caregiver roundtables and learning collaboratives. She also presents to various community groups on a variety of topics related to caregiving and the resources and supports provided by CAN.Nichole brings a unique perspective to her role, being an individual with a disability that has been on both sides of the caregiving relationship. She also has a background in disability advocacy and experience working with youth and families.Please visit the Caregiver Action Network website at https://www.caregiveraction.org
Please visit the Honestly HD website by going to www.honestlyhd.comNina DeLucia is the Director of Consumer Marketing for AUSTEDO at Teva Pharmaceuticals. She has worked in the life sciences industry for over 20 years for Pharmaceutical companies as well as for healthcare platforms such as WebMD and ePocrates. She has a passion for patients and care partners and her goal is to represent their voices in her everyday work. When she is not working, she can be found spending time with family and friends, training and racing for triathlons, or volunteering with her local youth group. She can be reached at nina.delucia@tevapharm.com.
To read the original article written by Christine Miserandino, please visit the following link: The Spoon Theory
To see some of the suggested holiday gifts, you can visit the following websites:Amazon list created by Lauren Holder: https://www.amazon.com/hz/wishlist/ls/36F3QP2FN6NE6?ref_=wl_shareAdaptive Clothing: https://www.buckandbuck.comhttps://www.alzstore.com/gift-ideas-for-seniors-with-alzheimers-s/2278.htm?msclkid=0438956749231ab589edf6fc3eeab60ahttps://shop.alzheimers.org.uk/collections/gifts-for-people-with-dementia/products/throw-and-tell-ball?variant=42366932975770https://www.alzstore.com/conversation-game-for-dementia-p/h012.htm
Sarah Tabrizi is Director of the UCL Huntington’s Disease (HD) Centre, Joint Head of Department Neurodegenerative Disease at the UCL Queen Square Institute of Neurology, a Principal Investigator at the UK Dementia Research Institute, and Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery. She graduated in Biochemistry, then studied Medicine at the University of Edinburgh where she was awarded the 1992 Leslie Gold Medal for the most distinguished medical graduate. Sarah undertook her PhD and trained as an independent scientist at UCL, establishing a large basic bench science and translational research team focussed on finding disease modifying therapies for HD. She was PI on the first successful phase 1/2b trial of an antisense oligonucleotide (NEJM 2019) and currently serves on several SABs advising industry on the development of potential gene targeting and nucleic acid therapies for HD. Sarah has published over 350 peer-reviewed research papers. In 2014 she was elected as a Fellow of the UK Academy of Medical Sciences. In 2017 she received the seventh Leslie Gehry Brenner Prize for Innovation in Science awarded by the Hereditary Disease Foundation. In 2018 she received the Cotzias Award from the Spanish Society of Neurology, and in 2019 the Yahr Award at the World Congress for Neurology and the Alexander Morison Medal from the Royal College of Physicians of Edinburgh. In 2022, she received the Osler Medal from the Association of Physicians of Great Britain and Ireland.
www.hdreach.org eboulavsky@hdreach.org
919-327-1804
Erika Boulavsky, MSW, LCSWA, serves as the Community Outreach Specialist for HD Reach. Erika is responsible for helping to build relationships and education within the medical community as well as assisting HD families navigate supportive resources. Erika has a BA in Sociology from Costal Carolina University and a Masters of Social Work from the University of South Carolina. She is originally from Myrtle Beach, SC and began her journey as a social worker for her local hospice agency in 2017. She moved to Raleigh, NC in 2020 and continued to work with the hospice population until starting with HD reach in July 2022. She and her partner have family members affected by HD and have been long time volunteers within HDSA youth programs, HDYO camps, and speakers at the HDSA convention. Erika and her partner enjoy relaxing with their two dogs, spending time with family and friends, and traveling as much as they can.
Debbi Fox-Davis has enjoyed a 23-year career leading and developing resources for nonprofits in North Carolina. Her career accomplishments include being the first Executive Director for Dress for Success of the Triangle; raising funding and engaging community supporters to ensure all children have permanent, safe and loving families for the Children’s Home Society of NC; raising scholarship and research funds for NC State University and running NC State’s Institute for Nonprofits online journal for nonprofit management.
Debbi has also served as the Assistant Director for Development at Habitat for Humanity of Wake County and as the Director of Development and Marketing for the North Carolina Theatre.
For more information, please visit www.hdgenetics.com
Wes is a Certified Genetic Counselor (CGC) through the American Board of Genetic Counseling. He earned a Master of Science in Genetic Counseling from Johns Hopkins University in 2021. As part of this program, Wes was an Intramural Research Trainee for the National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI) at the National Institutes of Health (NIH). His graduate thesis research was titled “COVID-19 Impact on Genetic Counseling for Huntington’s Disease via Teleheath”. Prior to graduate studies, Wes worked as an undergraduate laboratory assistant for Dr. Jeff Carroll at Western Washington University, studying the neurobiology and behavior of mice modeling Huntington’s disease. In 2018, Wes was selected for HDSA’s Donald A King Research Fellowship and in 2019 earned a Bachelor of Science in Behavioral Neuroscience.
Wes runs all of HD Genetics’ counseling sessions and will be the main point of contact throughout the genetic testing and counseling experience. You can reach out to Wes anytime with questions: Wes@HDgenetics.com
Louanne's bio:
I stood at the foot of my husband's hospital bed... "Where is the book?" I asked the doctor. "What book?" he asked... "The book that tells me how to do this..."
I was 33 years old and my 35 year old husband lay in the bed, just pronounced brain dead. It was the most devastating loss I had experienced in my life. Through this unexpected blow in life, I learned many lessons that I did not want to learn, but I did learn something profound. I wanted to help other people through the horribleness of grief.
After doing much research on what type of certification I wanted to get in order to help people, I discovered the Grief Recovery Method website. I signed up for their certification program and became a Grief Recovery Specialist in 2016. The Grief Recovery Method is a practical, action based program that fit my beliefs and lifestyle. I have now helped over 150 people walk through the small and correct actions that allow people to come from pain to relief. I have heard over and over again how much of a life changing impact this program has had on a person's life. And I personally know the positive impact it has had on mine.
I currently live in the lovely hamlet of Mount Pleasant, NC and work in surrounding areas that include Concord, Charlotte, Matthews, Albemarle and other small towns around me. I have had the priviledge of working one on one with some people, I have taught "When Children Grieve" to staff at a local Christian School, I currently teach classes of 6-8 people based on the Grief Recovery Method, and one of my favorite classes to teach is the Pet Loss class.
I am also certified through the Grief Recovery Institute to teach the Grief Recovery Method over the internet using video technology, for those who want to recover from a loss in the comfort of their home!
Ashley Ferreira has worked in the non-profit sector for over 10 years, 4 of those years in the rare disease space. She currently serves as one of PicnicHealth's Community Partnership Managers where she works with different advocacy and patient organizations to share about the power of real-world data research and the importance of owning and having access to one's medical records. She currently resides in Southern California with her family and serves as a caregiver for her mother and siblings.
PicnicHealth Blurb: PicnicHealth’s mission is to empower communities to own their health and engage in real-world data research to change the future of rare and chronic diseases. PicnicHealth fundamentally believes that medical record ownership is the right of every patient. We empower individuals by not just giving them access to their medical timeline, but also serving as a bridge that connects patients and researchers to pave the way for medical discovery and advancements. PicnicHealth partners with some of the world’s leading researchers to find new breakthroughs in healthcare. We offer thousands of individuals the opportunity to contribute to meaningful medical research with minimal time and effort. By choosing to share their records, they can make their voices heard and show researchers what managing their conditions truly entails during the course of care.
Video about PicnicHealth: https://picnichealth.wistia.com/medias/prxsj7atjm
Help4HD Specific link: https://picnichealth.link/Help4HD (for every eligible individual who signs up using this link, PicnicHealth will give $100 to Help4HD)
Law Enforcement Education with Vicki Owen. If you'd like to contact Vicki to get materials to hand out to your local law enforcement, you can email her at vicki@help4hd.org.
Dr. Anne Kloos received her physical therapy degree from the University of Wisconsin-Madison and her doctoral degree in biology/neuroscience from Cleveland State University. She is currently a Professor Clinical in the Physical Therapy Division at the Ohio State University (OSU) where she teaches adult neurorehabilitation and neuroscience courses. Her research is focused on balance and gait interventions in individuals with neurodegenerative diseases. She is a board-certified neurologic physical therapy specialist. Dr. Kloos has worked as a consultant physical therapist at the OSU Movement Disorders Clinic since 2005. She is the Co-Director of the Ohio State University Neurologic Physical Therapy Residency Program. Dr. Deb Kegelmeyer has over 30 year’s clinical experience and is currently a Professor of Health and Rehabilitation Sciences at The Ohio State University. She has extensive clinical expertise having worked in acute care, out-patient therapy and spent 10 years as director of physical therapy at a skilled nursing facility. Currently she works as a consultant in the Huntington’s Disease Center of Excellence at Wexner Medical Center, Ohio State University. She studies mobility and fall prevention in individuals with Huntington’s Disease. Her publication titles include use of the Tinetti Mobility Test in Huntington’s disease and use of Dance, Dance Revolution to improve balance in Huntington’s disease. She is also a vice-chair of the European Huntington’s Disease Network physiotherapy working group.
Beth Borowsky is an Executive Director and Senior Global Program Clinical Head in Neuroscience at Novartis Pharmaceutical Corporation, where she has been since 2018. Prior to Novartis, Beth spent 12 years doing clinical research and development for Huntington’s Disease, first at CHDI Foundation, where she was the Director of Translational Medicine, and then at Teva Pharmaceuticals, where she was a Senior Clinical Development Director. Prior to that, Beth spent 13 years in CNS drug discovery and development with Sanofi-Aventis and Synaptic Pharmaceuticals. Beth received a BS in Psychology and Neurobiology from Rutgers University, and a PhD in Pharmacology from Duke University Medical Center. She completed her post-doctoral training at the National Institute of Mental Health
Nicola is the co-founder and editor-in-chief for Rare Revolution Magazine. With a strong background in design and a passion for writing, Nicola is the driving force behind their creative vision, and uses her strategic experience in large-scale project planning to oversee their varied work, including RARE Youth Revolution. Nicola is co-founder and trustee of the charity Teddington Trust, volunteering her time to drive forward their mission—supporting families living with the ultra-rare condition xeroderma pigmentosum. Nicola is also author of the award-winning rare disease children’s book series, Little Ted. When not dedicating her time to rare disease, she is raising her two gorgeous sons, and is a rare mama herself.
Chelsea's bio: I'm currently 22, and I'm in my final year studying Business Management and Psychology at the University of Aberdeen. My current job is a student notetaker, where I take notes for students with disabilities so they have sufficient notes for their studies. I am the Administrative Volunteer for Cards for Bravery, a non-profit organisation dedicated to brightening up the days of hospitalised children with an uplifting, handmade card. When I'm not working, studying or volunteering, you can see me be part of various communities on campus, such as editing for Her Campus (an online writing magazine), running the social media for the Economics and Business society and managing the table tennis club. Lastly, I love writing, where I write articles on topics I'm greatly passionate in, such as fighting against racism and advocating for the chronic illness and disability community. You can see a lot of my work either with Injection Magazine (which I am currently interning with) or Her Campus.
Rare Youth Revolution website: https://www.rareyouthrevolution.com/
Karen Anderson, MD, is a psychiatrist specializing in neuropsychiatry, and director of the Huntington’s Disease Care, Education and Research Center at MedStar Georgetown University Hospital. Dr. Anderson sees adult patients and families dealing with behavioral symptoms caused by neurological conditions such as Huntington’s disease, Parkinson’s disease, Alzheimer’s disease and brain injuries. She is also an associate professor of psychiatry and neurology at Georgetown University Medical Center. In addition to seeing patients and their families, Dr. Anderson is active in research. She’s currently the co-principal investigator on a clinical trial studying a medication to treat Huntington’s disease, and another studying a medication for tardive dyskinesia, a neurological disorder. Dr. Anderson is also involved in research to develop treatment for the behavioral symptoms of Parkinson’s disease, brain injury and Alzheimer’s disease.
Jody Goldstein formally joined the staff of the HSG in March 2020. Her expertise in study start up (protocol and consent development), innovative patient recruitment and clinical trial site education has led to the successful initiation and implementation of over 15 HSG HD clinical trials. She has served as a member of the HSG Executive Committee, Project Aware Committee, HD Communication Committee and the HSG’s Executive Coordinator Council. Jody brings over 20 years’ experience dedicated to the clinical care of HD patients and families and HD research.
To sign up and participate, please visit: https://www.myhdstory.org/
Join us to hear about what Help 4 HD International is doing for awareness during the month of May.
Please reach out to Londen Tabor (Londen@Help4HD.org) or Lauren Holder (lauren@help4hd.org) to donate to Autumn's Adventure Fund. :)
Dr. Hayden is the CEO of Prilenia. He is an accomplished scientist and physician. He is a Killam Professor at the University of British Columbia and Senior Scientist at the Centre for Molecular Medicine and Therapeutics. He is also a Canadian Research Chair in Human Genetics and Molecular Medicine. Dr. Hayden was the President of Global R&D and Chief Scientific Officer at Teva from 2012-2017. He led the approval of Austedo for chorea in HD, the second drug ever to be approved for HD in the USA.
Author of approximately 900 peer-reviewed publications, he has focused his research primarily on Huntington Disease, translational medicine, including genetics, lipoprotein disorders, predictive, personalized medicine and drug development. He also identified the first mutations underlying Lipoprotein Lipase Deficiency and developed gene therapy approaches resulting in the first approved gene therapy product (Glybera) in the world. Dr. Hayden is the recipient of numerous prestigious honors. Most recently, he was awarded the David Dubinsky Humanitarian Award from the American Friends of Soroka MedicalCenter. He was inducted into the Canadian Medical Hall of Fame in 2017. He was named one of PharmaVoice’s “100 of the Most Inspiring People” (2015); awarded an Honorary Doctorate of Science by the Universities of Gottingen (2014) and Alberta (2009); the Luminary award by the Personalized Medicine World Conference (2014); the Diamond Jubilee Medal (2012) on behalf of HRH Queen Elizabeth II, the Killam Prize by the Canada Council of the Arts (2011), and the Canada Gairdner Wightman award (2011). Dr. Hayden is committed to empowering others. In addition to mentoring over 100 graduate students and postdocs, he is also a TED mentor. For more information about Prilenia, please visit ABOUT US | Prilenia Therapeutics
CHDI is currently having their HD Therapeutics Conference! HDBuzz has been reporting via live tweets on Twitter - they've done a great job in sharing the research. Seth Rotberg and Lauren Holder have been following along, and give a review.
Please visit the 3 Squeezes website by going to www.3squeezes.com
Laura Vazac has a special, limited edition bracelet right now where 20% of the proceeds go to Help 4 HD International.
In this episode, Katrina Hamel and Katie Jackson talk about the public impact our families have to endure living in a family impacted by HD.
Melissa (Dilley) Ryant is 34 years old and originally from Ohio. Her mom was the first in her family to be formally diagnosed with HD, and these symptoms began when Melissa was a child. Her mom passed away on 2/14/2008. When Melissa was 24, she tested gene negative for HD. Struggling with all of the complexities of survivors guilt, she connected with the NE Ohio Chapter, and attended her first convention in 2013. Melissa volunteered on the NYA board for about 7 years.
Erika Boulavsky is 30 years old and originally from South Carolina. Her mom was diagnosed while Erika was in elementary school. Fortunately her mom has mild symptoms that are managed and is still doing well today! Erika is at risk- after attending her first convention in 2012, Erika didn’t return to an HD event until an NYA retreat hosted in Denver in 2016. Erika volunteered on the NYA board for about 3 years after that.
Now, Melissa and Erika are living in Raleigh, NC. They recently got engaged this past December! They love spending time with their dogs, Melissa loves dragging Erika on hikes, and they both love to explore all of the unique food Raleigh has to offer!
Sandra Kostyk received her MD, PhD degrees from the Pritzker School of Medicine at the University of Chicago and completed her residency in neurology at the Massachusetts General Hospital, Harvard Medical School. Following her residency, she was awarded an NIH physician scientist K award. Dr. Kostyk has been medical director of the HDSA Center of Excellence at The Ohio State University since 2000. She has participated in numerous clinical trials related to Huntington’s disease and continues to work on increasing HD awareness and to improve care options for individuals and families affected by HD.
Casey Mitchell currently works in clinical research at the Ohio State University focusing on Huntington’s disease. Casey entered clinical research as a Clinical Research Assistant working with both movement disorders and cognitive disorders in the department of neurology at Ohio State during the fall of 2019. She graduated winter of 2017 from Ohio Dominican University with high honors obtaining a Bachelor’s of arts in Psychology. After graduation she worked as a Psychiatric Care Technician at Harding Hospital at Ohio State before transitioning into research. Casey is able to use her psychology background to cater to the emotional needs of her clinical research participants. Casey continues to pursue her interest in psychology through the emotional and behavioral aspects in Huntington’s disease research.
Fore more information about Kinect-HD, please visit www.huntingtonstudygroup.org or click here for an informational video.
Dr. Alby Richard is a movement disorders neurologist and assistant professor in the department of Neuroscience at the University of Montreal, in addition to being an adjunct professor in the Department of Neurology and Neurosurgery of McGill University. Dr. Richard completed a Ph.D. in Neuroscience at the Montreal Neurological Institute (McGill University), followed by medical school at the University of Calgary, then residency training in adult neurology back at McGill University. He pursued fellowship training in movement disorders and cognitive neurology at the Beth Israel Deaconess Medical Center (Harvard Medical School) in Boston, Massachusetts.
Genetic discrimination is still happening every day. Know your rights. Learn about the GINA Act, and follow GINAhelp.org - Your GINA Resource
Great article: Genetic Discrimination in the Workplace: What You Need to Know - ToughNickel
For more information about HD-CAB, please visit Introducing HD-CAB, OneVoice4HD – European Huntington Association (eurohuntington.org)
Recording of an interview with the coordinators of PREVENT-HD when I traveled to Madison, WI.
Nicola is the co-founder and editor-in-chief of RARE Revolution Magazine, a not-for-profit magazine and movement dedicated to amplifying the voice of rare disease stakeholders globally. RARE Revolution is also the home of the dedicated youth platform, RARE Youth Revolution which Nicola oversees. Nicola is co-founder and trustee of the charity Teddington Trust, volunteering her time to drive forward their mission—supporting families living with the ultra-rare condition xeroderma pigmentosum, a condition her own son has. Nicola is also author of the award-winning rare disease children’s book series, Little Ted. When not dedicating her time to rare disease, she is raising her two gorgeous sons.
Brenda started at the UWMC in 1995 after graduating as a registered nurse. She has devoted her career to working exclusively with patients with neurological disease in Urology. She began working half-time with patients and families in the Huntington’s disease clinic 10 years ago while continuing to work in Urology. Brenda has a passion for her patients and their families and has found her work in the HD community to provide unprecedented fulfillment. In her time away from work she enjoys fishing.
Jackie Harrison is a member of the HD community who created a very fun way to bring awareness to HD.
Visit @sybilontour on Twitter to see all the amazing places Sybil has been. :)
Dr. Wild is a Professor of Neurology at University College London, a Consultant Neurologist at the National Hospital for Neurology and Neurosurgery in London’s Queen Square, and Associate Director of UCL Huntington’s Disease Centre. He runs clinics in general neurology, neurogenetic movement disorders and Huntington’s disease. He leads a team of researchers aiming to accelerate the development of new therapies to make a real difference for people impacted by Huntington’s disease.
Dr. Wild believes that “Scientists have a duty to make their work accessible and understandable to the people who need it most.” So in 2010, I co-founded HDBuzz, an online source of reliable, impartial, easy-to-understand information about HD research. HDBuzz is now the world’s foremost HD research news source. In recognition of this, he was awarded the 2012 Michael Wright Community Leadership Award by the Huntington Society of Canada and the 2014 Research Award by the Huntington’s Disease Society of America (which is where I first met Dr. Wild).
He has authored 7 book chapters and over 80 peer-reviewed publications. He serves on the Medical Advisory Panel of the Huntington’s Disease Association, the Association of British Neurologists Neurogenetics Advisory Panel, and the Translational Neurology Panel of the European Academy of Neurology. He is the Associate Editor of the Journal of Huntington’s Disease and advises the steering committee to the UK All-Party Parliamentary Group on Huntington’s disease. He is the co-Lead Facilitator of the European Huntington’s Disease Network‘s Biomarkers Working Group.
For more information about HDClarity, please visit www.hdclarity.net
Toronto author and public speaker, Erin Paterson, tested gene positive for Huntington’s Disease (HD) in 2006. Shortly after she started suffering from depression, then received more crushing news, she was infertile. Despite those diagnoses she was determined to have a family and live a joyful life. Her stories have appeared on over a dozen sites including KevinMD, TheMighty and HuntingtonsDiseaseNews.com. She is the author of, All Good Things: A Story About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness
You can visit Erin's website at: https://www.erinpaterson.com/
You can get the book on Amazon here.
Lisa Mymo is responsible for the strategy and execution of AllianceRx Walgreens Prime’s specialized programs, services and offerings. Lisa and her teams are focused on best in class performance in the areas manufacturer and HUB services, patient access, patient services, financial services, implementation, pharma solutions and pharmacovigilance and REMS compliance. Lisa has 25 years working and leading in varied areas of the pharmacy industry, including pharmacy benefit management, biopharmaceutical account management and specialty pharmacy operations.
Bryan Bloom is a director at TailorMed where he works with providers and pharmacies nationwide to remove financial barriers to care. Prior to TailorMed, Bryan was co-founder at Dunn Meadow Pharmacy where he developed and managed relationships with top medical institutions throughout the United States. Bryan is currently a member of the Board of Directors at Stupid Cancer, a leader in young adult cancer advocacy, research, and support. He also sits on the CX Advisory Board at Rutgers University.
Sophie St-Cyr, PhD of Children's Hospital of Philadelphia joins us to talk about the heart.
Heart disease is the second cause of mortality from Huntington'sand patients present an increased incidence of heart failure and a smaller heart. This heart pathology will need solving to improve the longevity and quality of life of HD patients. Dr. St-Cyr will explore the contribution of two RNA-binding proteins (RBPs) in the HD-associated cardiac pathology. RBPs are responsible for regulating the RNA splicing of hundreds of genes, a phenomenon by which different proteins are produced from the same gene and serve different functions. CELF1 is responsible for heart splicing during development while MBNL1 does so in adulthood. Dr. St-Cyr hypothesizes that imbalance between these two RBPs is in part responsible for the HD heart pathology. To test this, she will identify all the RNA isoforms abnormally expressed in the heart in a HD mouse model and determine whether increasing MBNL1 expression ameliorates heart size and contractile function.
Louise Vetter is the Chief Executive Officer of the Huntington’s Disease Society of America (HDSA), the largest public not-for-profit organization devoted to the fight against Huntington’s disease (HD). Since joining HDSA in 2009, she has led the expansion of the Society’s reach with new programs and initiatives to strengthen the web of support for the HD community, advocate for better access to care for those affected by the disease, improve physician understanding of HD, and support scientific exploration to bring new treatments to HD families.
Ms. Vetter serves as Secretary of the International Huntington’s Association and is Treasurer of the Board of Directors of the American Brain Coalition. Additionally, she is an active member of the National Health Council and an editorial advisor to the Rare Disease Report.
Before coming to HDSA, Ms. Vetter spent nearly 10 years leading the American Lung Association of New York where she advocated for families living with lung diseases, like lung cancer, asthma, cystic fibrosis, emphysema and more, to get the care and support they needed.
Earlier in her career, she led national health education and public relations campaigns for Fleishman Hillard International Communications with emphasis on improving the patient-physician dialogue. At the heart of her experience is a firm passion for helping people face health challenges head on, always with dignity, understanding and hope.
To join PatientsLikeMe, please visit www.hdsa.org/plm
Christian Neri is a Research Director with a demonstrated history of working in the research industry. Skilled in genome science, computational biology, machine learning, translational research, R&D, target discovery, drug discovery, molecular diagnosis, clinical research, predictive analytics, business development, international business, and strategic sourcing. Skilled in Expert-Evaluation of Investment and Aid Opportunities. Main professional achievements cover advances in human genome analysis, neurodegenerative disease mechanisms, age-related diseases, systems modeling, and precision medicine initiatives.
You can look at the Geomic research here: Geomic (inserm.fr)
For more information about Geomic, here is a great article: Wearing Down of Protective System in Brain May Underlie Huntington’s (huntingtonsdiseasenews.com)
Seth, BJ and I talk about making changes in the HD community
If you are interested in participating, please email Lauren Holder at lauren@help4hd.org
Mike is a Neurology Registrar at the National Hospital for Neurology and Neurosurgery in London, and works on clinical trials in genetic diseases. He graduated from Cambridge in 2009 and completed a PhD in neurogenetics at UCL in 2018.
His research with Prof Sarah Tabrizi uses stem cells and cutting edge genetics to understand neurological diseases and create new treatments. His focus is on repeat expansion diseases, such as Huntington's disease, and the role of DNA repair in repeat instability
Katie Jackson and others from Help 4 HD recently went to the National Sheriff's Association conference to educate law enforcement about HD and JHD.
Daniel O’Reilly Ph.D. is currently a Post-Doctoral Associate at Khvorova Lab, RNA Therapeutics Institute,University of Massachusetts Medical School, Worcester, MA. Previously a Ph.D. student in Prof. Masad Damha’s lab at McGill University in Montreal, Canada. Dan earned his MSc in Chemistry from the University of Southampton, UK. It was there that he was first introduced to Nucleic Acid Chemistry in the laboratory of Prof. Jon Watts, working on the synthesis of peptide nucleic acid (PNA) monomers. Currently, his Ph.D. research focuses on utilizing chemical modifications to enhance the therapeutic effects of oligonucleotides by understanding nucleic acid structure. A research highlight has been probing the structural and chemical requirements for modification of the crRNA, in the CRISPR-Cas9 system. Creating a set of guidelines for chemical modification can lead to the development of novel highly modified crRNA for many applications.
Francis O. Walker, MD, Professor of Neurology and Director of the Movement Disorder Clinic at Wake Forest University, has had significant involvement in clinical care and research in Huntington’s Disease for over 30 years. Following residency training in Neurology at the University of Iowa and fellowship training in Movement Disorders at the University of Michigan, he joined the faculty of Wake Forest University in 1984. HD has been his primary clinical and research interest throughout his career. Before retiring, he used to provide clinical care for 150 HD patients per year and was actively involved in several HD-related clinical trials.
Samantha Griffin is a member of the HD community. She was a caregiver for her mom since the age of 15.
Dr. Hugh Rickards and I delve into the topic of diagnosing HD and what it means.
"People with HD may consult with a psychiatrist, a neurologist and a psychologist for their diverse symptoms, but what they really need, says Hugh Rickards, FRCPsych, MD, is a “Huntingtonologist”: A doctor who has been trained in all the diverse manifestations of the disease, from motor control to emotional issues to cognitive changes. Rickards, who is consultant in neuropsychiatry and honorary professor at the University of Birmingham, says that the emotional and cognitive problems of HD tend to get underplayed by doctors and researchers—and it shouldn’t be that way.
Rickards is a neuropsychiatrist at a large clinic for people with HD, and is also involved in recruiting people for research, including Enroll-HD. His own interest in the emotional landscape of HD has led him to spot similarities between HD and Asperger’s syndrome, the autism-like developmental disorder involving difficulty understanding other people’s feelings and states of mind."
Professor Hugh Rickards is a self-avowed "HD-nerd". He loves all things HD and has been running a service for people with HD in Birmingham, UK since 1997. He's particularly interested in how people with HD view the world. He founded the HEATED project (Huntington's Equal Access to Effective Drugs) in 2020 to identify any barriers to effective treatment for people with HD and to find ways to overcome them. He is also the current chair of the Huntington's Disease Association (England and Wales). In his spare time, he is a barista in the local park and plays the piano a lot.
Ashley Clarke's bio: I am 28 years old and Huntington's first entered my life when i was around 14 years old, with the positive diagnosis of my dad. From the age of 17, i cared for my dad alongside my brother, attended school/ university, worked part-time and got involved with my local HD community. I was a volunteer, service user and board member over the years here in Northern Ireland. In 2016 i started the #Imnotdrunk Lifestyle Blog to raise awareness of Huntington's and share my story with the world. In 2018 i graduated from University and got to celebrate the day with my dad at his nursing home with a special party. This year (2021) i have signed a new contract to continue my work of 2 years with the Huntingtons Disease Association Northern Ireland. I have spent the past 10+ years living a life affected by Huntington's Disease, and it has made me the person i am today. I have friends around the world, attended many Huntingtons events, spoke publicly and turned Huntington's into a career i love!
Please visit the Family Matters website here: https://hdfamilymatters.com/
We talk with Dr. Natalia Rocha about research she's been working on, specifically "Sex Differences in Huntington's Disease: Evaluating the Enroll‐HD Database"
Dr. Rocha joined The University of Texas Health Science Center at Houston as a Postdoctoral Research Fellow in the Department of Psychiatry and Behavioral Science in January 2016. Since then, she has been focused on the study of immune/inflammatory parameters associated with the pathophysiology of Huntington’s disease. Due to common interests in age-related disorders and neuroimmunology/inflammation associated with neurodegeneration, she joined Dr. Soto’s group and she is currently a member of the Mitchell Center For Alzheimer’s Disease & Brain Disorders. Dr. Rocha has received numerous awards and she has published more than 90 peer review papers, which have been cited more than 1,500 times (h-index = 22; i-10 index = 42; Google Scholar).
Ben joined NHPCO in October 2020, bringing 30 years of leadership experience in educational, healthcare, and social service settings. Prior to joining the NHPCO senior leadership team, Ben was with Hospice of the Chesapeake where he served as President and Chief Executive Officer (2015-2020) and Chief Operating Officer (2013-2015). Prior to relocating to Maryland in 2013, he served as Chief Administrative Officer at San Diego Hospice and The Institute for Palliative Medicine.
Ben has an extensive background in working with multidisciplinary clinical and management teams in a variety of educational and clinical settings. He holds a Master’s of Science in Counseling from San Diego State University, a Master’s of Education in Administrative Leadership from the University of San Diego, and a Bachelor of Sacred Theology and Philosophy from the Gregorian University in Rome, Italy.
For more information about advance care planning, and to find the needed forms, please visit the National Hospice and Palliative Care Organization.
If you are interested in the ChANGE HD study, you can find out more at our website: www.changehd.org or come see us on Facebook: @ChangeHDresearch
You can also call our toll-free number: 1-866-514-0858 or send us an e-mail at: change-hd@uiowa.edu
Tune in to hear Katie Jackson, Katrina Hamel, and Lauren Holder talk about the news that came out of Genentech/Roche.
For more information about Adira Foundation, please visit https://adirafoundation.org/about/letter-from-ceo/
TODAY (3/10) is the LAST DAY to register for HIPE. You can register at this link: https://www.help4hd.org/events-1/help-4-hd-hipe-virtual-myth-busters/form
HDYO's virtual event for young adults is March 13th and 14th. You can register for this event at this link: https://hdyocongress2021.vfairs.com/
Show Your Stripes for Rare Disease Day and all year long!
Visit https://www.rarediseaseday.org for more information on Rare Disease Day
Great resource for rare diseases: https://rarediseases.info.nih.gov/
Carlos Briceño has started a new podcast that focuses on the caregiver journey and having a healthy emotional outlet¨ through creativity. This includes original poems, music and more.
You can learn more about the podcast and submit content at: https://sharingaboutcaringpodcast.wordpress.com/
You can also read Carlos' column about caregiving at: https://huntingtonsdiseasenews.com/category/a-family-tradition-a-column-by-carlos-briceno/
Dr. Tamara Maiuri works as a Research Associate in Dr. Ray Truant’s lab at McMaster University in Hamilton, Canada, where her research is focused on the role of the huntingtin protein in DNA repair. Tam is also an active member of the HD community who regularly participates in fundraisers, education events, and knowledge translation through HDBuzz.net.
Tune in to hear about Nancy Sweets horrible situation with a rehab facility that was supposed to be caring for her son living with HD and tested positive for COVID.
First episode of the "HD Mythbusters" series with Dr. Thomas Bird. We discuss "CAG" in HD.
Dr. David Reynolds and Dr. Caroline Benn of LoQus23 share what they are doing in regards to HD research.
This show was done on Zoom. You can see the recording soon.
Please visit www.huntingtonstudygroup.org or www.clinicaltrials.gov for study locations
BJ Viau (view) has been a Huntington's Disease advocate for the past 20 years in multiple roles. After his mom was diagnosed in the mid-90s his family hosted a basketball fundraising event for 15 years that raised funds supporting the Huntington's Disease Society America. His fundraising led him to meet many other young people impacted by HD which led to being a co-founder and 10-year board chairman of the Huntington's Disease Youth Organization, an international non-profit supporting kids, teenagers and young adults impacted by HD. Professionally, BJ has spent 10+ years in the pharmaceutical space. Many of those years were at Lundbeck, working with Tetrabenzine, the first FDA approved medicine for chorea associated with HD. BJ has an MBA from the Kellogg school of management and a passion to help others in the HD community, especially those thinking about or going through the genetic testing and counseling process.
For more info, visit http://campaignformybrain.co.uk
You can purchase "Harry Needs a Hug" here: https://www.amazon.com/Harry-needs-hug-children-Huntingtons/dp/B08FNJK2BN
To see the Facebook Live and see the resources I posted: https://www.facebook.com/585948945/videos/10157636988738946
For an amazing resource dealing with assistance for durable medical equipment: https://www.payingforseniorcare.com/durable-medical-equipment/state-assistive-tech
Dr. Stephan is an industry veteran who is considered one of the fathers of the field of precision medicine, having trained with the leadership of the Human Genome Project at the NIH and then going on to lead discovery research at the Translational Genomics Research Institute and serve as professor and chairman of the Department of Human Genetics at the University of Pittsburgh. Stephan has identified the molecular basis of dozens of genetic diseases and published extensively in journals such as Science, the New England Journal of Medicine, Nature Genetics, PNAS and Cell. In parallel, Dr. Stephan has founded or co-founded 14 biotechnology companies and has advised an additional 12 companies. These companies are backed by top-tier investors such as Sequoia Capital, KPCB, Thiel Capital, and Khosla Ventures as well as corporate partners such as Life Technologies, Pfizer, and Mayo Clinic. Dr. Stephan received his Ph.D. from the University of Pittsburgh and his B.S. from Carnegie Mellon University.
Dr. Ratna and Lauren Holder talk about Dr. Ratna's research and inadequate care in the HD community in India
"I am a doctor, pursuing clinical care and research in HD for the past 5 years. I met approximately 150 HD patients and about 50 families are in regular consultation with me. This sensitized me to the misery created by HD in various contexts such as social, economic and cultural besides the obvious biological deterioration of the individual. I am committed to the cause of empowering HD affected individuals and families through clinical care, HD centric research and community activities through HDSI. I strongly believe in team work and have been connecting all the HD related people from India and abroad. I am currently serving as the vice chairman of Huntington Disease Society of India.
Dr Nikhil Ratna
MBBS, PhD (thesis submitted)
Vice-chairman, HDSI
Associate member, EHDN
Member, The International Parkinson and Movement Disorder Society (MDS) "
HD CAREGIVERS, WE NEED YOUR HELP!
To prepare for a clinical trial of a drug that may reduce the disruptive aggressive
behavior that some persons or patients with HD suffer from, we would like to
interview about 25 caregivers who are parents, spouses, or adult children of
patients who have aggressive outbursts. We are specifically interested in trying to
build a list of words that can be used to describe these physically aggressive, acting
out, or other threatening behaviors.
The research is sponsored by Azevan Pharmaceuticals, Inc. The interviews will be
conducted by Erin Koppel, who works at the Huntington's Disease Society of
America Center of Excellence at Georgetown University. We will provide a special
cell phone number that guarantees the privacy of the connection. The calls will be
voice recorded and transcribed so that they can be reviewed more easily. The
information that you provide will be stored in password-protected files at
Georgetown University. You must be fluent in English and at least 18 years old to
participate.
Participants that complete the full interview, which involves answering questions
about aggressive outbursts and related behaviors, will be compensated $50 for their
time and insight.
Thank you very much for considering this request. If you are interested in helping
us, please call or email Erin Koppel at:
202-893-1115
ek875@georgetown.edu
Irina has worked in drug development for over 18 years, with a focus on translational medicine and early development in neuroscience, but also ophthalmology and immunology. She has gained experience with development of small molecules, biologics as well as nucleic acid therapeutics, in a number of global pharma and biotech organizations in the US and Europe. Before joining Triplet Therapeutics, Inc., she was VP of Translational Medicine and Development at Wave Life Sciences in Cambridge, MA, developing stereopure nucleic acid therapeutics for rare genetic diseases.
Irina has an MD from the Technical University, Munich (Germany), and a PhD in neurophysiology from the University of Edinburgh, UK. She trained in psychiatry and neurology at the Max Planck Institute of Psychiatry (in Munich), and is board certified in Germany.
She obtained her venia legendi at the Charite, Berlin University in 2004; she is a reviewer for the German Ministry of Research and member of two supervisory boards in Germany: 4SC AG since 2012, and Paion AG since 2017.
Nessan Bermingham is founder and CEO of Triplet Therapeutics, Inc. He is a serial biotech entrepreneur and investor who has founded several companies including Triplet, Korro Bio and Intellia Therapeutics, “one of the top 10 biotech start-ups in 2014” and a “Fierce 15 biotech company,” taking the company from concept to IPO and large partnering deals with approximately 200 employees. He has nearly two decades of experience in Life Sciences startups and investments, including small molecules, biologics, medical devices, and diagnostics through venture, public, and secondary markets. As a venture partner at Atlas Venture and managing partner at Omega Funds, he successfully invested in and managed multiple investments across the United States and Europe. Currently he is also a venture partner at Atlas Venture and is Chair of the Board of Directors of F-star and Akrevia Therapeutics. He served as Intellia’s President and CEO from inception until December 2017. Previously he was an independent advisory board member of the California Institute of Regenerative Medicine (CIRM) and MerckSerono KGaA. He received his Ph.D. in Molecular Biology from Imperial College London and was a Howard Hughes Associate Fellow at Baylor College of Medicine. He is an avid mountain biker, snowboarder and trail runner.
Katie Simos is a Regional Sales Manager with AFLAC and longtime friend of Lauren Holder.
*Please note: This information is for educational purposes only, not to sell you anything. However, if you would like to get more information about how AFLAC policies could benefit your family with HD, please reach out to Lauren Holder at lauren@help4hd.org
Maurice Zauderer, Ph.D. has served as Vaccinex’s President and Chief Executive Officer and a member of the board of directors since the company’s inception in April 2001. Prior to founding Vaccinex, Dr. Zauderer was an Associate Professor at the University of Rochester and has also held senior faculty positions at Columbia University. During his academic career, Dr. Zauderer held the position of visiting scientist at the Laboratory of Cell Biology, the Ontario Cancer Institute and the National Cancer Institute. Dr. Zauderer received a B.S. in Physics from Yeshiva University and a Ph.D. in Cell Biology from the Massachusetts Institute of Technology.
Because we are all concerned about COVID-19 right now, we are re-airing our show with Dr. Wheelock and Lisa Mooney.
Dr. Vicki Wheelock is a neurologist and the director of the HDSA Center of Excellence at UC Davis Health. The mission of the HD clinic at UC Davis is to provide expert and compassionate care to people and families affected by HD, to provide outreach and education to families and health care professionals, and to advance HD research. Dr. Wheelock has extensive experience in HD education and research, and has been an investigator for HD observational studies and clinical trials since 1997. Lisa Mooney is the licensed clinical social worker for the HDSA Center of Excellence, UC Davis, and Northern California HDSA Chapter. HD patients, family members, and community providers can call Lisa regarding HD resources, community resources and benefits, information and education, and long term care planning.
Among Dr. Kenechi Ejebe’s responsibilities at Wave is to serve as the clinical lead of the Neurology (CNS) programs which include Huntington’s disease, amyotrophic lateral sclerosis, and frontotemporal dementia.
Dr. Ejebe has more than 10 years of translational and clinical research experience focused on developing innovative treatments for patients. Prior to joining Wave, he was a Resident Physician in Psychiatry at the Mount Sinai Hospital. Prior to that he was a member of the founding scientific team at Moderna Therapeutics.
Dr. Ejebe received his undergraduate degree from Carleton College and medical degree from The George Washington School of Medicine. He completed training in adult psychiatry at Mount Sinai Hospital, with advanced research training in neuroscience at the Icahn School of Medicine.
Dr. Vicki Wheelock is a neurologist and the director of the HDSA Center of Excellence at UC Davis Health. The mission of the HD clinic at UC Davis is to provide expert and compassionate care to people and families affected by HD, to provide outreach and education to families and health care professionals, and to advance HD research. Dr. Wheelock has extensive experience in HD education and research, and has been an investigator for HD observational studies and clinical trials since 1997. Lisa Mooney is the licensed clinical social worker for the HDSA Center of Excellence, UC Davis, and Northern California HDSA Chapter. HD patients, family members, and community providers can call Lisa regarding HD resources, community resources and benefits, information and education, and long term care planning.
Terry Tempkin, NP-C, MSN, is an Adult Nurse Practitioner who spent 18 years working with Huntington’s disease families at the University of California Davis Health System. During her time there, she worked with the HD team to build one of the largest HD programs in the country, noted for their expertise in HD/JHD care. She participated in over 18 clinical trials in Huntington’s disease.
Although she retired from the Health System in 2016, she did not retire from the passion to care for families coping with HD.
For more information about KINECT-HD, please visit the HSG website at: https://huntingtonstudygroup.org/current-clinical-trials/kinect-hd/
https://www.rarediseaseday.org/
https://huntingtonsdiseasenews.com/2020/02/20/rare-disease-day-2020-recognized-around-the-world/
whatmakesmerareHD
HDYO has a new Genetic Testing program! Please visit their website for more information: www.hdyo.org
Matt Ellison's bio: "Hi! My role at HDYO includes developing all the educational project work we do for our website, including video projects, overseeing the youth camps and events HDYO hosts globally, planning future global projects to expand our reach, keeping the website up-to-date, responding to any messages we are sent for support/advice/questions and coordinating our volunteer translation team.
I am the founder of HDYO and come from a HD family. I started working voluntarily on the idea of HDYO in 2010 and it launched in 2012, I have been a staff person since 2013. I also have a degree in Childhood and Youth Studies. I am fortunate to work on something that is a passion for me."
Patty Romero-Mabry shares her HD experience as a caregiver for her husband and her son with JHD.
For information on how you can help Patty and Bryan, please contact Lauren Holder at lauren@help4hd.org
Melissa (Dilley) Ryant has been a member of the Huntington's Disease Society of America's (HDSA) National Youth Alliance (NYA) since attending her first convention in 2013. From that point, Melissa volunteered to serve on the NYA board for 6 years. Her mother had HD and was symptomatic her entire life, until she passed away in 2008. A few years later, Melissa tested gene negative at the age of 24. That led her to reaching out to the NE Ohio HDSA Chapter and since then she has continued to be heavily involved in the community by providing support to youth and parents affected by HD. She recently completed her first marathon by running for the HDSA team at the Chicago Marathon in October of 2019.
Melissa (Dilley) Ryant has been a member of the Huntington's Disease Society of America's (HDSA) National Youth Alliance (NYA) since attending her first convention in 2013. From that point, Melissa volunteered to serve on the NYA board for 6 years. Her mother had HD and was symptomatic her entire life, until she passed away in 2008. A few years later, Melissa tested gene negative at the age of 24. That led her to reaching out to the NE Ohio HDSA Chapter and since then she has continued to be heavily involved in the community by providing support to youth and parents affected by HD. She recently completed her first marathon by running for the HDSA team at the Chicago Marathon in October of 2019.
David Rubinsztein is Professor of Molecular Neurogenetics and a UK Dementia Research Institute Professor at the University of Cambridge. He is Deputy Director of the Cambridge Institute for Medical Research. Dr. Rubinsztein earned his MB ChB, BSc(Med)Hons, and PhD degrees from University of Cape Town. He came to Cambridge in 1993 as a Senior Registrar in genetic pathology and was the first person to complete formal training in this field in the UK. His research is focused in the field of autophagy, particularly in the context of neurodegenerative diseases. His laboratory pioneered the strategy of autophagy upregulation as a possible therapeutic approach in various neurodegenerative diseases, and has identified drugs and novel pathways that may be exploited for this objective. He has made contributions that reveal the relevance of autophagy defects as a disease mechanism and to the basic cell biology of this important catabolic process. Rubinsztein was elected Fellow of the Academy of Medical Sciences (2004), EMBO member (2011) and Fellow of the Royal Society (2017). He was awarded the Graham Bull Prize (2007), Thudichum Medal (2017) and Roger de Spoelberch prize (2017).
Arthur Combs, MD is a physician executive and serial entrepreneur. After more than 20 years in clinical practice Art has spent the last 20 years bringing new medical technologies to market, as an officer of 5 successful start-up companies and a Fortune 500 senior executive. His focus has been on non-invasive technologies, although he has consulted across the life science spectrum from pharma to biotech, proteomics, molecular diagnostics and medical devices. Art is currently the CMO of MC10 Inc. an entrepreneurial company positioned to revolutionize clinical trials and chronic disease management through wearable technology. MC10’s technology is capable of gathering physiological and biometric data on ambulatory subjects in the home, and other non-clinical environments, as well as aiding researchers in the laboratory. The opportunities are many – longitudinal data from the home setting, transforming the clinical trials paradigm, chronic disease management, evolving subjective evaluations into objective assessments and the identification of meaningful digital biomarkers and clinical endpoints. Dr. Combs was instrumental in overseeing the company’s pivotal clinical trial and successful 510(k) application. The clinical unmet need, an elegant technological solution and a cogent business model guide Art’s entrepreneurial model for success. Dr. Combs is holder of 2 honorary fellowships, inventor on 2 U.S. patents, and author of numerous original scientific articles, abstracts, editorials and book chapters.
Dr. Baranger is a Postdoctoral Scholar with Dr. Erika Forbes, at the University of Pittsburgh. He studies how risk factors for psychopathology - particularly early life stress and genetic risk - influence brain development. His work has so far focused on brain structure and reward processing, with an emphasis on better understanding the neurobiology of substance use and depression. He completed his PhD in Neuroscience at Washington University in St Louis, where he worked with Dr. Ryan Bogdan and Dr. Deanna Barch. His dissertation was on the use of neural biomarkers (i.e. reward reactivity and brain structure) to disentangle the causes and downstream consequences of alcohol use. In his postdoc he has been studying how early life trauma and environmental stress influence adolescent development of reward processing, and its relationship to depression.
Dr. Jim DeMesa is the Chief Executive Officer of Emerald Health Pharmaceuticals (“EHP”). Dr. DeMesa has 30 years of experience in biotechnology and pharmaceutical leadership, product development and clinical and regulatory management. He is a former practicing physician, CEO of two public biotech companies, and a board member of several biotech companies.
Emerald Health Pharmaceuticals is a clinical-stage biotech company developing unique therapies that combine biotechnology with cannabinoid science to fight Huntington’s disease and other diseases. The company’s mission is to change the treatment paradigm for various diseases which currently have no cure by developing a new class of medicine at the cutting-edge of cannabinoid science, designed to be potentially disease-modifying rather than just for symptomatic treatment.
Contact EHP: info@emeraldpharma.life
Website: https://emeraldpharma.life
Twitter: @Emerald__ Pharma
Facebook: @emeraldhealthpharmaceuticals
LinkedIn: Emerald Health Pharmaceuticals
Sonia Slevinski, MS, NCC, is a research manager and has been with the Peg Nopoulos Laboratory since 2008. Slevinski studied sociology and counseling psychology and is a National Certified Counselor (NCC). She worked in community and inpatient mental health services for ten years before joining the Nopoulos Lab as a research associate. She became the coordinator for the Kids-HD study in 2011, managing study administration, assessment and participant enrollment. Since 2013, Slevinski has served as lab manager while remaining heavily involved in the Kids-HD and Kids-JHD studies.
Julie Stout is Professor in the School of Psychological Sciences at Monash University. She leads a team of post-docs, students, and IT specialists, employing techniques from neuropsychology and cognitive neuroscience to characterise the effects of neurodegeneration on cognition and brain function. Her research group is known for innovations in assessments using computerised and sensor-based approaches.
Professor Stout is a leading international expert in Huntington’s Disease. Her team has led the cognitive component of several large, international studies, which have described the cognitive, motor, psychiatric, and brain imaging changes in people with the Huntington’s Disease gene as they progress from normal functioning to manifest Huntington’s Disease. Professor Stout also led a 20-site international study that yielded the HD-CAB, which is now the standard cognitive assessment battery for clinical trials in Huntington’s Disease. Professor Stout also co-leads the Scientific Planning Committee of Enroll-HD, the largest ever study of people from Huntington’s Disease families, which has over 12,000 participants globally. A key translation of Professor Stout’s research is that the diagnosis of Huntington’s Disease is now being refined to take into account, for the first time, cognitive changes rather than focusing exclusively on the movement disorder symptoms.
Professor Stout is Director of Stout Neuropsych Pty Ltd. – a spin-out company that provides an assessment platform and services for cognitive assessment in clinical trials to pharmaceutical sponsors. Her team collaborates with multiple industry partners, pushing innovation by integrating emerging technologies such as mobile devices and sensors into clinical trials, with the aim of capturing individual differences in both disease phenotypes and responsivity to treatments.
Dr. Ellen van der Plas is an assistant professor at the University of Iowa Hospital & Clinics. Ellen received her Bachelor’s and Master’s degree in Developmental Psychology at the University of Leiden in the Netherlands. She moved to the US in 2007 for graduate school at the University of Iowa. In 2011, she obtained her PhD degree in neuroscience under the mentorship of Dr. Peg Nopoulos. She moved to Toronto, Canada that same year to pursue a postdoctoral fellowship at the Hospital for Sick Children. Broadly speaking, Ellen is interested in neurocognitive development in the context of medical illness, and her research experience spans various populations, including children born with congenital conditions and/or developmental disorders, childhood cancer, Myotonic Dystrophy and Huntington's Disease.
Ed is a consultant neurologist at the National Hospital for Neurology and Neurosurgery and Associate Director of the UCL Huntington’s Disease Centre, where his research team is focused on accelerating drug development through discovering new biomarkers for Huntington’s disease. He leads an MRC-supported longitudinal biomarker study, HD-CSF, and is Global Chief Investigator of the HDClarity study of cerebrospinal fluid in Huntington’s disease. He led the development of the first measurement platform to quantify the mutant huntingtin protein in cerebrospinal fluid and the discovery of neurofilament light protein as the first blood biomarker to predict onset of Huntington’s. He is a senior advisor and investigator in the Ionis / Roche programme to lower the production of mutant huntingtin, the cause of Huntington’s disease. He won the Huntington Society of Canada Community Leadership Award in 2012, the Huntington’s Disease Society of America Researcher of the Year Award in 2014 and Huntington Study Group Insight of the Year Awards in 2015 and 2017. Ed co-founded HDBuzz, the leading source of plain-language research news for the global HD Community.
Some resources that are available:
https://www.ncoa.org/healthy-aging/falls-prevention/
http://stopfalls.org/
https://www.help4hd.org/resources
Alexus writes the column Always Looking Forward at Huntington's Disease News. She is 22 and was diagnosed as a Huntington's Gene carrier earlier this year. Additionally, she works in healthcare consulting, which she started after graduating undergrad from MIT
To read her column, please visit: https://huntingtonsdiseasenews.com/category/always-looking-forward-a-column-by-alexus-jones/
As a psychologist with experience that spans clinical, educational, and professional settings, Dr. Marshall has been engaged in local and national suicide prevention and postvention work for more than 15 years. Since joining AFSP in 2014, Dr. Marshall has expanded AFSP’s menu of programs and improved program delivery through AFSP’s nationwide network of chapters. Dr. Marshall oversees AFSP’s Prevention and Education and Loss and Healing programs, which includes community-based suicide prevention training, clinician training, AFSP’s Healing Conversations Program for survivors of suicide loss, and programming for International Survivors of Suicide Loss Day. Dr. Marshall works to foster partnerships with mental health organizations, such as with the National Council for Behavioral Health to train people across the country in Mental Health First Aid, and oversees the development of new programming, including clinician trainings, community trainings and K-12 educator trainings. She is also past-chair for the Suicide Prevention Coalition of Georgia, and previously served as Associate Director of The Link Counseling Center’s suicide
prevention and aftercare program in Atlanta. She has served as a consultant for both national and state suicide prevention and postvention initiatives, which included providing suicide prevention training for the Division of Behavioral Health and Developmental Disabilities and serving on a task force of the National Action Alliance for Suicide Prevention.
Dr. Holmans is head of the Biostatistics and Bioinformatics Unit at the MRC Centre for Neuropsychiatric Genetics and Genomics at Cardiff University, and has over 25 years' experience in the statistical analysis of complex genetic traits, both in data analysis and developing novel genetic methodology. He has led the statistical analysis of large multicentre collaborations in genome-wide linkage of schizophrenia, and association in Alzheimer’s disease and schizophrenia. Of particular relevance to HD and other repeat disorders, he led the pathway analysis of the two GeM genetic modifiers GWAS (2015, 2019) and also the genetic analysis of HD progression (Hensman-Moss et al. 2017b), implicating DNA repair pathways as modifiers both of age at onset and progression in HD. He has also led the pathway analyses of HD RNA-seq expression data in myeloid cells (Miller et al. 2016) and whole blood (Hensman-Moss et al. 2017a), implicating immune pathways as relevant to HD pathogenesis and uncovering shared susceptibility pathways with other neurodegenerative disorders. Currently, he is interested in discovering genetic modifiers associated with other phenotypes (particularly psychiatric) in HD. Dr. Holmans is married to Lesley Jones and they live in Cardiff with three cats He is a keen bridge player, fond of watching cricket and also a die-hard St Louis Cardinals fan.
Norberta Robertson, aka “Birdie”, began her involvement with HNDC many years ago as an event volunteer. Her interest in Huntington’s disease quickly moved forward in 2012 when she joined the HD Clinic Medical Team as a volunteer Social Worker for the monthly HD clinic. In late 2014, she stepped into the research arena in a clinical trial as a Capacity Rater. Looking for a change out of mainstream case management duties, in May, 2015, Birdie joined the staff at HNDC as a full time Social Worker and research assistant. “Early on as a volunteer, I experienced that even small assistance to someone with HD brought about significant differences in the quality of life for that person, their caregiver and the family as a whole.” She is a Washburn University graduate, obtaining her Master’s degree in Social Work from Wichita State University. Her experience includes working with severe and persistent mental illness adults (SPMI), serious emotional disorders (SED), elder care, and substance abuse. In addition to her duties as Social Worker, she currently co-facilitates the Wichita monthly HD support group, is active with HNDC fundraising and is a co-coordinator for the ENROLL-HD study.
National Suicide Prevention Week: https://afsp.org/campaigns/national-suicide-prevention-week-2019/
Resources: https://afsp.org/find-support/resources/
Suicide Prevention Awareness Month: https://www.nami.org/get-involved/awareness-events/suicide-prevention-awareness-month
Debbi Fox-Davis has enjoyed a 23-year career leading and developing resources for nonprofits in North Carolina. Her career accomplishments include being the first Executive Director for Dress for Success of the Triangle; raising funding and engaging community supporters to ensure all children have permanent, safe and loving families for the Children’s Home Society of NC; raising scholarship and research funds for NC State University and running NC State’s Institute for Nonprofits online journal for nonprofit management.
Debbi has also served as the Assistant Director for Development at Habitat for Humanity of Wake County and as the Director of Development and Marketing for the North Carolina Theatre.
Debbi received her MBA from the Middlebury Institute of International Studies in Monterey, CA and has worked in Taiwan and studied in China. She received her Bachelors of Arts in History from George Mason University (Fairfax, VA).
After growing up in the Washington, DC suburbs and moving around a lot for college, internships and jobs, Debbi took up residence in Raleigh 24 years ago. Soon after she arrived in Raleigh, she met her future husband and Raleigh has been home ever since. Debbi and her husband, John, have two sons, Spencer (19) and Max (17), a dog, Hobbes and acat, Pippi. She serves on the Board of Wheels for Hope and is an active volunteer with the Dorothea Dix Park. She enjoys running, reading, travelling, cooking and eating.
Gwen has worked at the Good Samaritan Society’s University Specialty Center for the past 39 years. She is the nurse manager of the Huntington’s Unit. Gwen has been an advocate of HD for 23 years, helping residents and their families to navigate through issues surrounding long term care placement, supporting and educating staff on HD specialty care. Attends the HDYO North American camp as volunteer and is one of the camp nurse’s.
Gwen also has served as a panel expert for the HDYO.org website. Has served on the board of HDSA Minnesota Chapter. Was a frequent speaker for Lundbeck Pharmaceutical doing webinars and on sight educations throughout the US about caring for people HD and Tetrabenazine. In the past has presented at the HDSA National conventions. In her spare time is interested in Reiki, Healing Touch, Aromatherapy and Feng Shui and yoga.
John Alam is President and CEO of EIP Pharma.
Until May 2014, he was therapeutic area head for diseases of aging within Sanofi R&D. In that role he led global R&D activities at Sanofi directed at Alzheimer’s disease and Parkinson’s disease, as well as number of other age-related diseases.
Previously, from 1997 until 2008 he held positions of increasingly responsibility at Vertex Pharmaceuticals, including Chief Medical Officer and EVP, Medicines Development. At Vertex, he played major roles in the development of novel innovative medicines for HIV, Hepatitis C and Cystic Fibrosis. And, from 1991 to 1997, while at Biogen, Inc, he led the clinical development of Avonex (interferon beta-1a) for the treatment of multiple sclerosis.
John is currently also on the board of directors for Alliance for Aging Research (Washington DC) and was previously on the Board of Trustees of Accelerated Cure Project for Multiple Sclerosis (Waltham MA). He is also currently on the advisory council of the Board of Overseers of WGBH (Boston MA).
John received a S.B. in chemical engineering from the Massachusetts Institute of Technology and a M.D. from Northwestern University School of Medicine. Subsequently, he completed an internal medicine residency at Brigham and Women’s Hospital and a post-doctoral fellowship at Dana-Farber Cancer Institute.
Please join us as Ignacio talks about his organization Factor-H and how he is helping the HD community.
https://factor-h.org/
To donate, please visit: https://help4hd.org/project-abrazos/
Also, for more information about "Dancing at the Vatican", please visit the following link
For more information about resources or contact information for Jennifer, please visit www.hdsa.org/epa
Cheney Drew is a research fellow and senior trials manager working in the Centre for Trials research at Cardiff University. She has a PhD in the neurobiology underpinning Huntington’s disease and now works as a clinical trials researcher, primarily focussing on trials concerning neurodegenerative disease, particularly HD. This includes trials of physical activity in HD and other complex interventions that may be used to modulate disease progression.
Debbie Pausig, LMFT, CT, is a Licensed Marriage and Family Therapist, a Certified Thanatologist, Professional Support Group Leader for HDSA CT-Chapter. Hospice Bereavement Coordinator for VNA Community Healthcare & Hospice. She is a National Speaker and Author of “An Affai? Worth Remembering With Huntington’s Disease, Incurable Love & Intimacy During an Incurable Illness.” She is the HDSA-CT Chapter Family Services Committee Chair and Education Committee Member.
Debbie uses humor and compassion drawn from 25 years of experience in Law Enforcement and 17 years as her late husband with HD’s caregiver into her profession as a therapist and presenter.
Contact info:
· Debbie Pausig @203-985-8246, or debbiepausig.mft@gmail.com, debbiepausigmft.com Support groups in North Haven and Norwich, CT LMFT
· Mary Dunlevy @ 203-216-6266, mdunleavy@operationhopect.org Support group in Fairfield,CT MSW
*Hartford Healthcare Chase Family Movement Disorders Center, Vernon, CT and their Medical Director, Dr. de Marcaida 860-870-6380 https://hartfordhealthcare.org/services/movement-disorders-center
*Also, UCONN Health Huntington’s Disease Program 860-679-6700, Farmington, CT
Genetic Counseling is cited on their website (The testing used to be anonymous) https://health.uconn.edu/psychiatry/huntingtons-disease-program/
*Currently, Fresh River Healthcare in East Windsor, CT is the first skilled nursing facility to partner with the UCONN Health Huntington’s Disease Program. 860-623-9846 Program Director is Rulanda Simao Freshriverhealthcare.com
*We also have VNA Community Healthcare & Hospice, Guilford, CT that provides homecare, palliative & hospice homecare for HD patients. Hospice Director is Susan Sokol 203-458-4200 Connecticuthomecare.org
Dr. Bird is a clinical neurogeneticist with interests in a wide range of hereditary disorders of the nervous system. In 1974, Dr. Thomas Bird founded the first clinic for adults with neurogenetic diseases in the United States. For more than 40 years, he directed this clinic at the University of Washington where he saw thousands of patients and conducted pioneering research on conditions such as cerebellar ataxia, movement disorders, hereditary neuropathy, muscular dystrophies, and familial dementias. Over his career, he has been honored with numerous national awards and lauded for his discoveries about the genetics of hereditary neurological disorders including Alzheimer and Huntington diseases. Although retired from clinical practice, Dr. Bird still actively researches genetic diseases of the brain and neuromuscular system; collaborates with molecular biologists and others on genetics projects; and mentors physicians in training and research fellows. He earned his M.D. from Cornell Medical College and is board certified by the American Board of Psychiatry and Neurology. He lives in Lake Forest Park, WA, just outside Seattle, with his wife Ros.
Shana (Martin) Verstegen has many things to be proud of, but her work with the Huntington’s disease Society of America in honor of her mother will always top that list. Shana’s mother passed away from Huntington’s Disease in March of 2013. After growing up watching Debby Martin lose her ability to move independently, Shana strived to live every day to the fullest with a focus on movement – from being the first female pole vaulter at the University of Wisconsin, to winning 6 lumberjack world championship titles. Shana’s professional life involves traveling the country in the fitness industry as a Master Instructor for TRX Training and the American Council on Exercise, personal training, and teaching group exercise. Of course her heart is with fundraising and raising awareness toward finding a cure for Huntington’s Disease. She recently tested negative but will never give up the fight.
Gene Veritas – whose real name is Kenneth P. Serbin – has been active in the Huntington’s disease community since his mother’s diagnosis with the disease in 1995. She died of HD in 2006 after a 20-year fight. Serbin tested positive for the HD gene in 1999. His daughter Bianca tested negative in the womb and is today a healthy 18-year-old college student. Since 1998, Serbin has served as a volunteer advocate for the Huntington’s Disease Society of America (HDSA). He adopted the pseudonym “Gene Veritas” in January 2005, when he started the blog “At Risk for Huntington’s Disease” (www.curehd.blogspot.com). He has posted 270 articles on numerous aspects of HD, its social impact, and the quest for treatments. In 2007, he helped initiate the effort in California to obtain funding for HD research from the state’s world-leading stem cell institute. In 2011, Serbin came out about his gene-positive status by keynoting the 6th annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc. That year he was also named the HDSA Person of the Year. In 2012, he went fully public, publishing the essay “Racing Against the Genetic Clock” in The Chronicle of Higher Education. In 2017, Serbin, his wife Regina, and daughter Bianca participated with HD families from around the world in #HDdennomore, Pope Francis’ special audience with the HD community at the Vatican in Rome. A scholar of Brazilian history, Serbin has also collaborated with advocates for the Associação Brasil Huntington (Brazilian Huntington’s Association). Serbin is a professor in the Department of History at the University of San Diego.
Phil’s Kids was set up in memory of Dr Phil, who sadly passed away from Huntington’s Disease (HD) in 2014. Whenever Dr Phil lost a patient he would immediately go and look at the new-born babies. He did this, he said, because it reminded him of the circle of life, of life continuing, of new hope and who knew what amazing feats these new humans might achieve. It was because of his belief in future generations, the possibilities of medical science and his great love of children that we decided to start Phil’s Kids. Stopping the passing of the gene is the only way to reduce the numbers of those with HD. Phil’s Kids aims to assist people to do just that. By offering financial support, information, advice and peer support for PGD-IVF we hope to be able to help the HD community to stop this horrendous disease in its tracks. The charity wants this generation within a family to be the last generation in that family to have HD, ever.
Peg Nopoulos, M.D. is Professor of Psychiatry, Pediatrics and Neurology. She is the DEO and Chair of the Department of Psychiatry at the University of Iowa Hospitals in Iowa City, Iowa.
Dr Nopoulos is a physician-scientist. Her clinical care consists of taking care of patients with Huntington’s Disease in Iowa’s HD Center of Excellence where she has worked for the past 15 years. Dr. Nopoulos’ research focuses on the study of brain and behavior. This is done using state of the art neuroimaging techniques, specifically Magnetic Resonance Imaging (MRI). Dr. Nopoulos is interested in aspects of understanding normal healthy brain such as differences in brain structure and function between the sexes as well as understanding how the brain changes with development through adolescence. In regard to HD, she is interested in studying the effects of the Huntington’s gene on brain development and is director of the Kids-HD and Kids-JHD program. The Kids-HD program evaluates brain structure and function in children at risk for HD and the Kids-JHD program is the first ever neuroimaging study of JHD subjects.
John Paul Jr.’s driving career began in 1979 driving Formula Fords. The following year he joined his father’s racing team as co-driver in the IMSA series. After only two years of competing, John Paul Jr. started the 1982 season with back-to-back wins at Daytona and Sebring, and by the end of the season, he had clinched the championship at the age of 22, becoming IMSA’s youngest champion. He won the Michigan 500 CART race in 1983, followed by a second place finish at Le Mans in 1984. Additionally, John Paul Jr competed in the Indianapolis 500 seven times.
To purchase his book, please visit http://johnmortonracing.net/5050-john-paul-jr
Tuhin Virmani received a combined M.D./Ph.D. at UT Southwestern Medical School in Dallas, Texas. His doctoral thesis explored the physiologic mechanisms of synaptic chemical neurotransmission. After neurology residency at Washington University in St. Louis, Missouri, he completed a clinical-research fellowship in movement disorders at Columbia University in New York. At Columbia he became interested in studying the causes of freezing of gait in Parkinson disease and he completed a clinicopathologic study under the mentorship of Drs. Stanley Fahn and Jean-Paul Vonsattel. Dr. Virmani has continued to focus his research on gait in neurodegenerative disorders since joining the University of Arkansas for Medical Sciences in 2013, where he is co-director of the Movement Disorders program. He runs a state-of-the-art Gait Lab with the goal of developing predictive algorithms for pre-symptomatic detection gait impairment that would allow development and testing of therapeutic options for patients with these debilitating diseases
To view the original show page, please visit http://www.blogtalkradio.com/help4hd/2016/05/18/dr-nancy-wexler-on-help4hd-live
"We are so honored and priviledged to have Dr. Nancy Wexler on Help4HD Live! The "Blond Angel" the "Gene Hunter" as she is so endeard by her subjects, has devoted her life and career as a Geneticist to finding a cure for Huntington's disease which took her mother and many other family members. Find her video interview on One on 1 Profile: Geneticist Dr. Nancy Wexler Leads the Fight Against one of the World's Most Dreaded Hereditary Diseases.
Tune in for this momentous interview...
Find more informaton about Dr. Nancy Wexler, President of the Hereditary Disease Foundation at http://hdfoundation.org/."
HDYO has a new Genetic Testing program! Please visit their website for more information: www.hdyo.org
Matt Ellison's bio: "Hi! My role at HDYO includes developing all the educational project work we do for our website, including video projects, overseeing the youth camps and events HDYO hosts globally, planning future global projects to expand our reach, keeping the website up-to-date, responding to any messages we are sent for support/advice/questions and coordinating our volunteer translation team.
I am the founder of HDYO and come from a HD family. I started working voluntarily on the idea of HDYO in 2010 and it launched in 2012, I have been a staff person since 2013. I also have a degree in Childhood and Youth Studies. I am fortunate to work on something that is a passion for me."
Daniel Claassen, MD Lead Investigator at HSG’s Vanderbilt University Medical Center site and Director of the Huntington’s Disease Center of ExcellenceMember of the HSG Research Advisory BoardAssociate Professor of Neurology at Vanderbilt UniversityServes as Editor for the Huntington Study Group’s bi-annual journal, HD Insights Jody Core-Bloom, MD, PhD Lead Investigator at HSG’s UC-San Diego Health site and long-time member the HSG for over 20 years and member of the HSG Research Advisory BoardDirector of the UCSD Huntington’s Disease Clinical Research Program and Center of ExcellencePrinciple Investigator on over 40 clinical trials
Dr. Victor Sung, a native of Houston, TX, graduated from Vanderbilt University with a B.S. in Neuroscience and a minor in music in 2001. He received his medical degree from UT-Southwestern in Dallas in 2005. He completed residency training in neurology at the University of Alabama at Birmingham (UAB) in 2009, during which time he was elected to membership of the Alpha Omega Alpha Honor Society and received the Argus Award for Best Neurology Resident. He currently serves as Director of the UAB / HDSA Huntington's Disease Center of Excellence, serving more than 200 HD patients across the southeast. The UAB COE was awarded the HDSA Excellence in Clinical Care Award in 2017. Dr. Sung was awarded the President’s Award for Excellence in Teaching in 2018. Dr. Sung has been honored to serve on the HDSA Board of Trustees since 2017.
Dr. Higgins is the Vice President of Clinical Development at uniQure. He is responsible for the early development of clinical gene therapy trials for neurological disorders. Prior to joining uniQure in 2018, Dr. Higgins was responsible for all neurological diagnostic testing at Quest Diagnostics and was the federal CLIA-license holder for a specialty laboratory. He was formerly a Professor at Weill Cornell Medical College where he was the principal investigator on several private foundation and NIH research grants focused on clinical neurogenetics. He held senior leadership positions in genomic medicine at the federal and state governments including the National Institute of Health (NIH) and the New York State Department of Health (NYSDOH). At NIH he was part of the Human Genome Project and teams that initiated the first-in-human enzyme replacement and gene therapy clinical trials. He led the Human Genetic Initiative at the NYSDOH. He discovered the genes or loci for several diseases including Parkinson disease, essential tremor, ataxia, intellectual disability (ID), and metabolic disorders. He is a fellow of the American Academy of Neurology with board certifications in Pediatrics by the American Board of Pediatrics and Neurology with Special Qualification in Child Neurology by the American Board of Psychiatry and Neurology. He has authored more than 100 peer-reviewed publications, book chapters, and reviews articles in the field of neurogenetics. He is licensed to practice medicine in MA and NY. Dr. Higgins earned his bachelor’s degree in biology from Marist College and medical degree from New York University. He completed residences in Pediatrics at Children’s Hospital/Harvard Medical School; Adult Neurology at NYU/Bellevue; and Child Neurology at Children’s National Medical Center/George Washington University. He completed a 3-year fellowship program at NIH in neurogenetics and metabolic neurology.
Anne Rosser is Professor of Clinical Neuroscience at Cardiff University and Honorary Consultant Neurologist at the University Hospital of Wales. She trained in Medicine at Cambridge University where she also undertook her PhD in Neuroscience. She has worked in the area of neurodegeneration since 1994 and has a special interest in Huntington’s disease (HD), in particular the development of new therapies for this and related neurodegenerative conditions. She directs the Cardiff University Brain Repair Group; leads the South Wales HD clinical service; and co-directs the Wales Brain Repair and Intracranial Neurotherapeutics (BRAIN) Unit, which aims to deliver therapeutics into the brain in neurological conditions. She led the FP7 Consortium Repair-HD between 2013 and 2018, and is currently Chair of the European HD Network.
Dr. Patrick Weydt is a board certified neurologist and certified neurogenetic counselor in the Department of Neurodegenerative Diseases and Gerontopsychiatry where he heads the Huntington’s Disease Clinic. He has been involved in several studies and clinical trials for Huntington's disease, including LEGATO, PREDICT, REGISTRY and most recently ASO in HD. He has served as a member of the Scientific and Bioethical Advisory Board for EHDN and is currently the Co-Chair of the European HD Network.
Dr. Amy J. Rose is an Assistant Professor in the Department of Communication Sciences and Disorders at Western Carolina University. She received her doctorate from the University of North Carolina at Greensboro and has over 25 years of clinical experience serving children and adults with communication disorders. Dr. Rose currently teaches both undergraduate and graduate students with courses in Dysphagia, Voice Disorders, Genetics, and Adult Language Disorders. Research projects include the development of friendship and social skills in disability populations and international service learning and collaboration in developing countries, most recently in Botswana, Africa.
Our guest this week is Kinser Cancelmo. Kinser lost her husband to HD and her daughter to JHD. Meg was only 15 when she lost her battle with JHD. Kinser started the “Meg’s Fight for a Cure JHD Foundation” in memory of Meg to help raise research funds for a cure and to help other families affected by JHD.
Join our host, as Ginnievive Patch discusses her recent article in The Huntington's Post about Survivor's Guilt. It is very common for family members that are HD negative to feel guilty about their results.
Tune in to hear Vicki Owen, head of Help 4 HD International's LEEP program, talk about their recent experience exhibiting at Alabama Chief of Police Winter Conference.
Listen as Katie Jackson and our guest, Peter Deng discuss JHD and gene editing. Peter is a Doctoral Candidate in the Pharmacology and Toxicology program at UC Davis. Currently, he is being mentored by Drs. Jan Nolta, Kyle Fink, and David Segal at the UC Davis Institute for Regenerative Cures and Genome Center. His research is centered on the production and evaluation of a novel DNA-binding therapy for rare genetic diseases such as Huntington’s Disease. He has previously been a recipient of a National Institute of Health-sponsored Pharmacology Fellowship, Ines McMillan Fellowship in Pharmacology, New Member Scholarship at the Huntington’s Study Group, and selected for Hot Topics in Neuroscience at Society for Neuroscience. A native of California, Peter is highly interested producing impactful research as well as bridging the gap between science and the public through science communication.”
Terry has spent 18 years working at the University of California Davis HDSA Center of Excellence. During her time there, she worked with the HD team to build one of the largest HD programs in the country, noted for their expertise in HD/JHD. She has participated in 18 clinical trials targeting new treatments for HD. Although she retired from the health system in 2016, she did not retire from her passion to care for families coping with HD/JHD. Terry is currently an Executive Board Member for Help 4 HD International, and consults with the HDSA Center of Excellence program.
Dr. Bonnie L. Hennig-Trestman currently has a private tele-therapy practice and serves on the Board of Directors for the Huntington’s Disease Youth Organization (HDYO). Dr. Hennig-Trestman has over 30 years of expertise providing clinical service and supervision with patients and family members suffering from neurodegenerative, physical, and psychiatric illnesses. Her book, “Talking to Kids About HD: A book for people who know children with HD in their family” has been translated into five languages. She has provided educational lectures on talking to kids about HD as well as various HD related topics to national and international audiences. Dr. Hennig-Trestman has been involved in HD research conducting observational and clinical trials. She is a member of the Huntington Study Group (HSG), the European HD Network (EHDN), and the Huntington’s Disease Youth Organization (HDYO).
Jordan Schultz, PharmD, graduated from the University of Iowa College of Pharmacy in 2013. After completing a 2 year residency, he began providing clinical pharmacy services to patients with neurodegenerative diseases, including Huntington’s Disease. In addition to his clinical work, Jordan conducts clinical research that is focused on (1) understanding the pathophysiology of Huntington’s Disease and (2) identifying environmental factors, including medications, that may modify the disease course of HD.
Dr. Hefti is Assistant Professor of Pathology at the University of Iowa and directs the Iowa Brain Bank. He received his MD from the Mount Sinai School of Medicine in New York City and did his pathology training at Harvard Medical School in Boston before returning to Mount Sinai for his neuropathology fellowship. While at Mount Sinai, he worked in the laboratory of Dr. John Crary, an expert in the neuropathology of neurodegenerative disease. He works closely with Dr. Nopoulos to identify neuropathological correlates of the structural changes seen in her imaging studies and has a particular interest in the role of the tau protein in Huntington’s disease.
Please follow along on http://hddrugworks.org/dr-goodmans-blog
Dr. LaVonne Goodman's bio: -Family member, lost first husband to HD -Internal Medicine M.D. more than 40 years -Practice limited to HD last decade -Now retired from office practice but serve as a “volunteer physician”, continuing to see homebound and long-term care HD patients -Previous president and board member of the Northwest Chapter of HDSA (now WA State HDSA) -Member of HSG and the combined HSG and EHDN Behavioral Working Group -Co-author of Guides for Treatment of Irritability and Obsessive Compulsive Symptoms in HD (2011) -Co-author of the Guidelines for Management of Neuropsychiatric Symptoms in HD (2018) -Co-author of Contemporary Care of Huntington’s Disease in the Handbook of Clinical Neurology (2018) -Co-founder and writer for Huntington’s Disease Drug Works, a website presently dedicated to HD Care
Please follow along on http://hddrugworks.org/dr-goodmans-blog
Dr. LaVonne Goodman's bio:
-Family member, lost first husband to HD
-Internal Medicine M.D. more than 40 years
-Practice limited to HD last decade
-Now retired from office practice but serve as a “volunteer physician”, continuing to see homebound and long-term care HD patients
-Previous president and board member of the Northwest Chapter of HDSA (now WA State HDSA)
-Member of HSG and the combined HSG and EHDN Behavioral Working Group
-Co-author of Guides for Treatment of Irritability and Obsessive Compulsive Symptoms in HD (2011)
-Co-author of the Guidelines for Management of Neuropsychiatric Symptoms in HD (2018)
-Co-author of Contemporary Care of Huntington’s Disease in the Handbook of Clinical Neurology (2018)
-Co-founder and writer for Huntington’s Disease Drug Works, a website presently dedicated to HD Care
Dr. LaVonne Goodman's bio:
-Family member, lost first husband to HD
-Internal Medicine M.D. more than 40 years
-Practice limited to HD last decade
-Now retired from office practice but serve as a “volunteer physician”, continuing to see homebound and long-term care HD patients
-Previous president and board member of the Northwest Chapter of HDSA (now WA State HDSA)
-Member of HSG and the combined HSG and EHDN Behavioral Working Group
-Co-author of Guides for Treatment of Irritability and Obsessive Compulsive Symptoms in HD (2011)
-Co-author of the Guidelines for Management of Neuropsychiatric Symptoms in HD (2018)
-Co-author of Contemporary Care of Huntington’s Disease in the Handbook of Clinical Neurology (2018)
-Co-founder and writer for Huntington’s Disease Drug Works, a website presently dedicated to HD Care
Ed a consultant neurologist at the National Hospital for Neurology and Neurosurgery and Associate Director of the UCL Huntington’s Disease Centre, where his research team is focused on accelerating drug development through discovering new biomarkers for Huntington’s disease. He leads an MRC-supported longitudinal biomarker study, HD-CSF, and is Global Chief Investigator of the HDClarity study of cerebrospinal fluid in Huntington’s disease. He led the development of the first measurement platform to quantify the mutant huntingtin protein in cerebrospinal fluid and the discovery of neurofilament light protein as the first blood biomarker to predict onset of Huntington’s. He is a senior advisor and investigator in the Ionis / Roche programme to lower the production of mutant huntingtin, the cause of Huntington’s disease. He won the Huntington Society of Canada Community Leadership Award in 2012, the Huntington’s Disease Society of America Researcher of the Year Award in 2014 and Huntington Study Group Insight of the Year Awards in 2015 and 2017. Ed co-founded HDBuzz, the leading source of plain-language research news for the global HD Community.
While she may be petite in stature, Shelby Lentz has a voice that will fill any venue. Shelby's talent was recognized at an early age and by fourteen, she was singing the National Anthem at local sporting venues, performed for the first time at the Wild Bull Saloon and earned over 100,000 votes in Bob Kingsley's Future Star online competition. It would not take long before she was grabbing the attention of others in the industry and at just fifteen she opened at The State Theater in Kalamazoo for Warner Music artist, Frankie Ballard. It was also about this time that she began collaborating with local song writers on original music as well. She went on to also open for former American Idol finalist, Matt Giraud, as well as international recording artist, Joanne Shaw Taylor. Shelby spent two years pursuing music in Nashville, Tennessee where she attended Belmont University and worked at the Grand Ole Opry. She recorded two studio EPs while in Nashville and performed on Broadway at the famous Tootsies. Her second EP, entitled “Unbroken” features a song called “Champion” Lentz co-wrote with her friend, Jessica Kellie Adams, inspired by Sylvester Stallone’s Rocky Balboa films. After the diagnosis of Huntington’s Disease in her family, and being recently diagnosed herself, she began her own nonprofit, “Champions for HD” to help aid research as well as other local families struggling with this disease. This was named in honor of her song “Champion” that is now recognized as an HD power anthem and part of her musical proceeds go back to Champions for HD to further the fight against Huntington’s. Shelby performs a mixture of songs that delight all audiences of all ages. There is no doubt that this little girl packs a powerful punch as an experienced entertainer.
While she may be petite in stature, Shelby Lentz has a voice that will fill any venue. Shelby's talent was recognized at an early age and by fourteen, she was singing the National Anthem at local sporting venues, performed for the first time at the Wild Bull Saloon and earned over 100,000 votes in Bob Kingsley's Future Star online competition. It would not take long before she was grabbing the attention of others in the industry and at just fifteen she opened at The State Theater in Kalamazoo for Warner Music artist, Frankie Ballard. It was also about this time that she began collaborating with local song writers on original music as well. She went on to also open for former American Idol finalist, Matt Giraud, as well as international recording artist, Joanne Shaw Taylor. Shelby spent two years pursuing music in Nashville, Tennessee where she attended Belmont University and worked at the Grand Ole Opry. She recorded two studio EPs while in Nashville and performed on Broadway at the famous Tootsies. Her second EP, entitled “Unbroken” features a song called “Champion” Lentz co-wrote with her friend, Jessica Kellie Adams, inspired by Sylvester Stallone’s Rocky Balboa films. After the diagnosis of Huntington’s Disease in her family, and being recently diagnosed herself, she began her own nonprofit, “Champions for HD” to help aid research as well as other local families struggling with this disease. This was named in honor of her song “Champion” that is now recognized as an HD power anthem and part of her musical proceeds go back to Champions for HD to further the fight against Huntington’s. Shelby performs a mixture of songs that delight all audiences of all ages. There is no doubt that this little girl packs a powerful punch as an experienced entertainer.
Check out the group IVF with PGD for Huntington's disease on Facebook.
Also check out the following links: http://babyquestfoundation.org/
https://www.univfy.com/fertilitychronicles/grant-programs
Join us to hear from Stacey and Vicki about their advocacy efforts at the Chief of Police Conference
Chris Delaney's bio:
"Everything changes when you make all of your decisions based on a dream"
Chris Delaney has trained and spoken in front of thousands across the United Staes in various leadership roles within the Corporate America, small business, and entrepreneurship spaces.
As a coach and consultant, Chris has helped countless individuals and business owners bring their vision to fruition through authentic connection and clearly defined action.
Leah Barker is a young woman who has tested positive for Huntington's Disease. She is an advocate for HD and mental health, and is also the owner of the blog "Capturing the Corners", which delves into the difficult topic of mental illness. You can find her complete bio on her website: http://capturingthecorners.org/
Dr. Amy J. Rose is an Assistant Professor in the Department of Communication Sciences and Disorders at Western Carolina University. She received her doctorate from the University of North Carolina at Greensboro and has over 25 years of clinical experience serving children and adults with communication disorders. Dr. Rose currently teaches both undergraduate and graduate students with courses in Dysphagia, Voice Disorders, Genetics, and Adult Language Disorders. Research projects include the development of friendship and social skills in disability populations and international service learning and collaboration in developing countries, most recently in Botswana, Africa.
I’m Staci Cushenbery, formally Nicholas and am 34 years old. My husband and I live in Harper, KS with our 4 kiddos and several dogs. Together we own a trucking business in the oil field and I also am a LuLaRoe retailer. On top of my super busy life I try to advocate for HD as often as anyone will let me. My first experience with HD was when my mom tested positive. From there on I’ve wanted to be as active as possible despite having no local resources. I was one of the founding members of the NYA where I served on the board for many years and headed the Silent Auction. My very first experience with the HD convention was a support group, from there my love for helping others was created. I have a degree in Psychology and a Masters in Social Work. Facilitating groups, helping children, and HD families is my passion. Most recently, I’ve joined up with others who have reached the age of 30+ and felt lost without the support they’d known to grow and love. We came up with the HDYAC, where my role will be limited but definitely be support based for others and I’m super excited where this next adventure with my HD family will take me! Lastly, I’ve participated in research for over a decade and truly believe that we will be the last generation to live with HD.
"My name is Anna Lunsford, I am 22 years old and live in Columbus, Ohio. I graduated from Ohio State University with a Bachelor's in Psychology and Women's Studies and will return this fall to begin my Masters in Social Work. My dad and four of his siblings inherited Huntington's Disease from my grandfather. In June 2016, I was the first of a very large family to receive a positive result pre-symptomatically. I currently work in the Animal Cruelty Investigations department at a humane society coordinating a program for pets of survivors of domestic violence. I spend the rest of my time traveling and advocating for Huntington's Disease. I immediately recognized the importance of being involved with research and have participated in Enroll-HD, Predict-HD, and an exercise study at the University of Iowa. Additionally, I was invited to be a part of HD-COPE and flew to London this February for training as a patient advisory group member. I sit as the Chair of Communications on the NYA Board and am training to run the Chicago Marathon in October as part of HDSA's charity team."
Lauren Holder’s grandfather was diagnosed with Huntington’s disease (HD) when she was just a teen. After a few years, at the age of 20, Lauren decided to be tested for HD, ultimately testing positive. Despite this, Lauren remained dedicated to caring for her father, who is now symptomatic, and the larger HD community. In 2017, at the age of 32, Lauren found out she was pregnant unexpectedly. Because of the risk of passing on HD, she chose to undergo genetic testing for the baby. She now has a beautiful baby girl that is HD negative.
HOPES is a student-run project at Stanford University dedicated to making scientific information about Huntington’s disease (HD) more readily accessible to patients and the public. Their goal is to survey the rapidly growing scientific and clinical literature on Huntington’s disease, and to present this information in a coherent, reliable web resource.
We are excited to have Stanford student Cole Holderman on with us! Cole is the student director of HOPES at Stanford University, a project dedicated to helping families, patients, and the general public learn more about Huntington's Disease.
Cole has been with HOPES for most of his undergraduate career and has served as a writer for the group's website (hopes.stanford.edu) a point of contact for the local HDSA support group, and a leader for other members of the HOPES team. In addition to his work with HOPES, Cole is also a board member of HDSA Northern California, the HDSA National Youth Association Lead for California, and a student at Stanford University, where he studies Human Disease, Communication, Bioethics, and Cellular Biology.
Angie Rowe joins the Global Genes team as Chief Operating Officer. She has over 17 years experience in executive management of LLCs and non-profits. She most recently spent the past 8 years managing and directing various aspects of the U.S. Bank OC Marathon and related events. In this role, she also developed and implemented the OC Marathon Foundation’s very successful Kids Run the OC program. Prior to the OC Marathon, Angie was president of the Junior League of Orange County, CA. In addition, she has served on various non-profit boards throughout the county, and in those roles helped several in their start-up phases. Angie is a breast cancer survivor, enhancing her excitement about joining Global Genes because she personally understands the value in an accurate genetic diagnosis.
Global Genes® is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon®. What began as a grassroots movement in 2009, with just a few rare disease parent advocates and foundations, has since grown to over 500 global organizations.
Global Genes' mission is to eliminate the challenges of rare diseases by building awareness, educating the global community, and providing critical connections and resources that equip advocates to become activists for their disease.
Tune in to hear Katrina Hamel talk about placing our loved ones with HD. We hear over and over about the challenges our families face when it comes to placing their loved ones with HD. Katrina has worked in hospice care for over 15 years. Her experience has brought a lot of insight to Help 4 HD. This show will shed a lot of light on the behind-the-scenes things that go on within care homes.
We are excited to have Gia Mannone on the show with us to talk about her advocacy projects she is working on to spread awareness about HD. Gia has done some very creative and successful awareness campaigns on social media to spread awareness and tell her story. We look forward to this interview and to hearing more about what Gia is doing to spread awareness about HD.
Tune in to hear Katie Jackson and Katrina Hamel discuss all that Help 4 HD International did for Huntington's Awareness Month
About HSG
The Huntington Study Group (HSG), which was formed in 1993, is the world’s first HD cooperative therapeutic research organization. Today, HSG is a world leader in facilitating high quality clinical research trials and studies that bring us closer to finding more effective treatments for HD and reducing the burden of HD for families affected by the disease.
HSG is an organization of compassionate professionals dedicated to finding treatments that make a difference, providing rigorous care initiatives, and improving the quality of life and outcomes for HD families. How? By bringing together families, medical professionals, clinical researchers, HD advocacy groups, and sponsors to raise awareness of HD, share knowledge and best practices, and develop innovative treatments.
Lauren Steffan will be on with us to talk about all that she is doing to advocate for our HD community when it comes to research and care.
Seth found out as a 15-year-old that his mom had a rare, neurological, genetic disease known as Huntington’s Disease (HD). HD is like having symptoms of ALS, Alzheimer’s, and Parkinson’s all at once, and there currently is no cure. Five years later, Seth tested positive for HD and used the results as motivation to give back to the community through fundraising, advocacy, and volunteer efforts. His hope is to be a mentor for young people who face adversity by sharing how taking control of his HD journey has given him opportunity, fulfillment, and hope.
Join us as founder and creator, Casey Herrington discusses the Huntington's Disease Global Ecosystem Map (HD GEM) Project. HD GEM Project's mission is to further engage with the "silent" 70% of the HD community by helping those impacted by Huntington's disease (HD) find the resources they need to better assist them on their HD journey. This not for profit project was started and created by Casey Herrington with the guidance of the an advisory team made up of leaders within the HD community.
Join our host, as Ginnievive Patch discusses her recent article in The Huntington's Post about Survivor's Guilt. It is very common for family members that are HD negative to feel guilty about their results.
Tune in to hear Cossetta Stroud talk about her organization Cozie Care and an event they are hosting in Southern California.
Join us as Andrew Feigin, SIGNAL Principal Investigator and Maurice Zauderer, PhD, President of Vaccinex discuss the SIGNAL trial.
James Valvano, CEO and founder of WeHaveAFace will be joining our host to discuss their upcoming convention in Orlando, Florida. Please tune in to get all of the details.
Tune in to hear Vicki Owen, head of Help 4 HD International's LEEP program, talk about their recent experience exhibiting at Alabama Cheif of Police Winter Conference.
Join Sharon and Katie to hear a discussion of Help 4 HD International's newest brochure, "Clinical Trials." They will talk about how to get involved in clinical trials, what "informed consent" means, the challenges of clinical trials and how to best prepare for them, personal experiences with clinical trials for Huntington's disease, and how to become a patient advocate for research and clinical trials. Sharon will also share a little about the bioethics conference she recently attended in Hanover, Germany, as a patient advocate.
Dr. Mark Yarborough, Dean's Professor of Bioethics from UC Davis, joins us to talk about the bioethics of clinical trials--the question of whether new practices in biological research are both moral and ethical. This topic has a huge impact on research currently being done on Huntington's disease. He'll also talk about the challenges of doing clinical trials for Juvenile Huntington's disease. IRBs (Institutional Review Boards) make decisions about whether proposed clinical trials are ethical and whether enough research has been done to minimize the risk to human participants. They also determine whether potential benefits outweigh the risks and help determine the informed consent process for clinical trials. The ultimate goal is to make sure that science is done the "right" way. Mark recently helped plan and co-hosted Herrenhausen Conference: “Lost in the Maze? Navigating Evidence and Ethics in Translational Neuroscience”, February 14 – 16, 2018, Herrenhausen Palace, Hanover, Germany.
The Huntington’s Disease Youth Organization is an international non-profit organization set up to specifically provide support for young people around the world impacted by Huntington’s disease.
We are excited to have Wendy Erler, Vice President of Patient Advocacy, share the latest on gene editing on “Help 4 HD Live!”
Wave Life Sciences goal: Our goal is to bring meaningful therapies to patients with serious genetic diseases.
In honor of Valentine's Day, we are celebrating the very special love that caregivers exhibit every single day as they care for their loved ones who have HD or JHD. Our guests are four amazing women: Barb Sipes, Carla Arriola, Sue Gamble, and Tina Parker Wooldridge. They will share how the disease has changed their relationships and what it has taught them about love. We invite you to join in the conversation by calling in or by posting questions and comments in the chat room.
We'll also give you the latest information about camps for youth whose lives are impacted by HD and about the upcoming Neuro Film Festival. Links for that information are here:
HDYO's North American HD Youth Camp 2017: http://en.hdyo.org/eve/events/524
NYA Youth Retreats 2017: http://nya.hdsa.org/nya-day-retreats
Neuro Film Festival: http://patients.aan.com/go/about/neurofilmfestival
CIRM's mission is to accelerate stem cells teatments to patients with unmeant medical needs.
Our guest this week is Kinser Cancelmo. Kinser lost her husband to HD and her daughter to JHD. Meg was only 15 when she lost her battle with JHD. Kinser started the “Meg’s Fight for a Cure JHD Foundation” in memory of Meg to help raise research funds for a cure and to help other families affected by JHD.
Join us and our guest Ezra Parzybo, Cannabis Consultant and author of "Cannabis Consulting; Helping Patients, Parents, and Practitioners Understand Medical Marijuana" available from UPNE Spring, 2018. Ezra will be joining us to discuss his work in the cannabis community and the benefits that he has seen for those suffering from diseases such as HD and JHD.
Join us as Help 4 HD's executive team and volunteers share how they will navigate through the holiday season. As a follow up from last week's radio show with Dr. Bonnie Hennig-Trestman, the team members will share their current and past experiences as a families affected by HD/JHD. The holidays can be stressful without an illness, but when you add HD or JHD it can increase the stress. Please listen in as the team discusses some of the stresses many HD/JHD families experience and how they will be celebrating this year.
Our guest this week is Dr. Bonnie Hennig-Trestman, LCSW, DSW. She is joining us to discuss how HD and JHD families can navigate through the holiday season with less stress and more enjoyment.
Dr. Bonnie L. Hennig-Trestman currently has a private tele-therapy practice and serves on the Board of Directors for the Huntington’s Disease Youth Organization (HDYO). She served as the Director of the UConn Health Huntington’s Disease (HD) Program in Farmington, Connecticut until June 2017. Dr. Hennig-Trestman has over 30 years of expertise providing clinical service and supervision with patients and family members suffering from neurodegenerative, physical, and psychiatric illnesses. Her book, “Talking to Kids About HD: A book for people who know children with HD in their family” has been translated into five languages. She has provided educational lectures on talking to kids about HD as well as various HD related topics to national and international audiences. Dr. Hennig-Trestman has been involved in HD research conducting observational and clinical trials. She is a member of the Huntington Study Group (HSG), the European HD Network (EHDN), and the Huntington’s Disease Youth Organization (HDYO). Thank you for joining me on the show today, Dr. Hennig-Trestman.”
Dr. Peg Nopoulos joins Katie Jackson on Help4HD Live! and discusses her work at the University of Iowa. Dr. Nopoulos is a psychiatrist that works with clients that have HD and JHD. There are several observational studies and clinical trials that are conducted at the University of Iowa. The JHD observational studies are the Kids-HD and Kids JHD programs and those are conducted at the Peg Nopoulos Laboratory. Dr. Nopoulos' laboratory research is designed to evaluate brain development and its relationship to long term behavioral, cognitive, and emotional outcome among children with various medical conditions. While work in the laboratory has historically focused on later childhood, adolescence and young adulthood, some of its current studies are evaluating brain development much sooner – shortly after birth.
Listen as Katie Jackson and our guest, Peter Deng discuss JHD and gene editing. Peter is a Doctoral Candidate in the Pharmacology and Toxicology program at UC Davis. Currently, he is being mentored by Drs. Jan Nolta, Kyle Fink, and David Segal at the UC Davis Institute for Regenerative Cures and Genome Center. His research is centered on the production and evaluation of a novel DNA-binding therapy for rare genetic diseases such as Huntington’s Disease. He has previously been a recipient of a National Institute of Health-sponsored Pharmacology Fellowship, Ines McMillan Fellowship in Pharmacology, New Member Scholarship at the Huntington’s Study Group, and selected for Hot Topics in Neuroscience at Society for Neuroscience. A native of California, Peter is highly interested producing impactful research as well as bridging the gap between science and the public through science communication.”
We are excited to have Sonia Slevinski, research manager at Dr. Peg Nopoulos’s Lab at the University of Iowa, join us on Help 4 HD Live! She is joining us to discuss Help 4 HD’s HIPE Education Day that was held in Cedar Rapids, Iowa, in August.
Sean W. Scott will join our host, Katie Jackson to discuss elder law and end-of-life care. Many HD/JHD families haven’t even thought of end-of-life care and the type of things they should have in place and may not know where to begin. Oftentimes, people at risk for HD are scared to get tested because they are afraid of being denied coverage and benefits based on their results. These conversations are subjects that can be very difficult to think about and initiate with loved ones. Katie will be talking to Sean about these subject and others that may affect HD/JHD families.
As the spouse of a man with Huntington's Disease, Laurie Moore will share her journey with her husband. Through all the emotional ups and downs, the appointments, and everything else that comes with HD, Laurie is going to share their experience on this oftentimes difficult road.
Heather Hare, Director of Communications and Outreach with the Huntington Study Group is joining us to discuss the mission of HSG and their important contributions to the HD/JHD community, including their Annual Event that will take place in Denver, Colorado on November 2nd-4th, 2017. Please join us to learn about HSG.
CEO/Founder of WeHaveAFace, James Valvano, talks about their newest project "The Purple Road"
Join our host, Katie Jackson as she interviews James Valvano, founder and President of WeHaveAFace.org about the filming of their documentary "The Purple Road". The documentary is about families living with Juvenile Huntington's Disease. James has traveled the United States and other countries to capture the footage for the film bringing awareness to a portion of the Huntington's community that is often forgotten. JHD holds a special place in the hearts of those of us at Help 4 HD, International and we are looking forward to hearing about the experiences James had during his travels.
Join us on Help 4 HD Live! as Roshni Bhatt discusses her continued research in India and her background with Huntington's Disease. Roshni has been on the show before and will share the progress that has been made with her research.
Lauren Holder is on the show today to talk about herself as an advocate. Lauren is well know in the HD community and has frequented our talk show since the very beginning. Today we will be talking about her recent trip to Washington D.C. and all that was going on while she was there fighting for the HD Parity Act.
Lauren is a caregiver and is such an inspiration to so many of us in the same position. It is advocates like Lauren that will make a difference for the next generations to come.
Tune-in!
Caring for a child with Juvenile Huntington's Disease has a unique set of challenges. From dealing with school officials, IEPs, doctors that aren't familiar with their child's symptoms. Chloe and Misty are going to join our host, Katie Jackson and discuss the daily trials and tribulations of their lives.
Gary Barg, founder and CEO to Today's Caregiver, caregiver.com, and Fearless Caregiver, began his journey in 1995, after returning home to help his mother care for his elderly grandparents. Overwhelmed by everything this entailed--finding a care home, dealing with insurance, etc.--he decided there needed to be one single source of information, advice, and support for caregivers. Gary founded the magazine Today's Caregiver and the online site caregiver.com to be that source. He also began hosting Fearless Caregiver conferences around the country and introduced a free online newsletter for caregivers. Today, Gary will share with us the many resources that Today's Caregiver and caregiver.com have to offer, as well as how to access those resources. The photos in this show's carousel, taken from the caregiver.com website, will give you a glimpse of the resources that are available.
After clinical trial results were announced for deutetrabenazine (Austedo), I hoped we might be getting a drug that didn't cause the side effects of other chorea treatments (antipsychotics or the old tetrabenazine). And now that I have prescribed it, it has proved better than I had expected based on the clinical trial results. Though not successful in everyone, it has clearly decreased chorea in most. But what I was not expecting is how much this drug improves the functional activities that chorea impacted. (Part of Dr. Goodman's Article on Austedo on HD Drugworks)
To read the whole article please go to: http://hddrugworks.org/
Cindy Moore is Erin's mom. Cindy has walked every step, alongside her daughter and the struggles that go along with Juvenile Huntington's Disease. Cindy lives in Canada and is also the President of We Have A Face - Canada. This past weekend Cindy and her team raised over $4,000 that will all be donated to UC Davis to help fund their JHD research! Tune-in Wednesday August 30, 2017 at 1PM PST to hear more about Cindy, Erin and We Have A Face!
This year Help 4 HD International exhibited at the Alabama Association of Chiefs of Police Summer Conference. Join us to hear about Vicki Owens experience coming face to face with law enforcement agents from the state of Alabama and teaching them about Huntington's disease.
Phil’s Kids was set up in memory of Dr Phil, who sadly passed away from Huntington’s Disease (HD) in 2014. Whenever Dr Phil lost a patient he would immediately go and look at the new-born babies. He did this, he said, because it reminded him of the circle of life, of life continuing, of new hope and who knew what amazing feats these new humans might achieve. It was because of his belief in future generations, the possibilities of medical science and his great love of children that we decided to start Phil’s Kids. Stopping the passing of the gene is the only way to reduce the numbers of those with HD. Phil’s Kids aims to assist people to do just that. By offering financial support, information, advice and peer support for PGD-IVF we hope to be able to help the HD community to stop this horrendous disease in its tracks. The charity wants this generation within a family to be the last generation in that family to have HD, ever.
Neer Ziskind is the CEO and co-founder, along with geneticist Dr.Yael Wilnai, of GeneFo. GeneFo was created as a solution to patients and medical experts wishing to connect and enrich their understanding of their condition, how to better manage it, and get the most up-to-date information on new treatments and clinical trials. Neer will share with us how GeneFo works and why you should set up a GeneFo account. Registration is FREE, and once you set up an account, you will have access to all the resources featured on the website. The mobile app, available on iTures, is described thus: "Simply choose your condition, and start comparing your symptoms or medication to other patients like you, and see if they have more efficient treatments and drugs! You will also get complete and free access to: A physician's directory (doctors, researchers, hospitals) that patients are rating, so you know who are the best practitioners in your areaMedical advice: No more scrolling through PubMed or WebMd- Simply ask your questions, and experts in your condition will answer, and provide online lectures and videosShare with your peers: in addition to experts, fellow patients and caregivers will offer invaluable support and adviceManage your health information: Track your symptoms, treatments and well being over time, so you get a report with trends and recommendation about more efficient treatments. Share it with your doctor to improve your care!Clinical trials matching: Get access to the most innovative treatments years before they are commercially available, by getting matched to FDA approved trials in your area." To join the community, go to https://www.genefo.com/signup_regular/help4hd and create an account. We'd love for you to join us
Brian Schrag is a Dallas-based composer, performer, sit-down comic, and community arts therapist. He and his family lived in central Africa for about 7 years, helping communities translate the Bible into their languages and use their own arts to make their lives better. Brian has a PhD in ethnomusicology from UCLA, a CAG repeat of 41, one wife, and three mostly grown children (and my first grandchild due in October!).
To learn more about Brian Schrag please visit www.hdblues.org and www.makelifehd.org.
You can also vist a tribute page Brian created at: http://www.brianatplay.com/marilynschrag.html where you will find a tribute video to his mother with HD Blues playing in the background.
Lanise Shortell, RN, is a Pediatric Clinical Care Nurse Specialist who received her degree from Georgia State University. She has worked with The Children’s Program of Hospice Atlanta, Visiting Nurse Hospice Atlanta, since 2007. Ms. Shortell was nominated for the Atlanta Journal Constitution Celebrating Nurses Award in 2008, 2009, and 2014. According to colleague Jan Roesner, “Lanise's passion in life is caring for terminally ill children and their families." She is part of a very small group of nurses in Georgia certified to provide care for this population. Lanise is extremely dedicated and competent in her skill set. To say she gives 100 percent of herself to children and families is an understatement. Her ability to positively intervene is truly miraculous. Ms. Shortell is a Certified Grief Recovery Specialist, HPNA Certified in Pediatric Hospice and Palliative Care, and HPNA Certified in Perinatal Loss Care.
Shelby Lentz, Miss Greater Kalamazoo, is on our show to talk about how she became aware of Huntington's disease running in her family. Shelby is a Huntington's Disease advocate and due to her own experience with this disease she is able to shed light on common questions, thoughts and decisions that she has faced. We will be discussing her family history, her own testing process and her ability to bring much needed awareness to HD all while being a singer/song writer, working, competing and community outreach AND attending college out of state. Here is a link to her YouTube page with her newest music video: https://www.youtube.com/watch?v=VXhqdu21q-Q You can find her on facebook at: https://www.facebook.com/shelby.o.lentz also a link to her page, Miss Greater Kalamazoo Scholorship Program: https://www.facebook.com/MissGreaterKalamazooScholarshipProgram/?pnref=lhc
Neer Ziskind is the CEO and co-founder, along with geneticist Dr.Yael Wilnai, of GeneFo. GeneFo was created as a solution to patients and medical experts wishing to connect and enrich their understanding of their condition, how to better manage it, and get the most up-to-date information on new treatments and clinical trials. Neer will share with us how GeneFo works and why you should set up a GeneFo account. Registration is FREE, and once you set up an account, you will have access to all the resources featured on the website. The mobile app, available on iTures, is described thus: "Simply choose your condition, and start comparing your symptoms or medication to other patients like you, and see if they have more efficient treatments and drugs! You will also get complete and free access to: A physician's directory (doctors, researchers, hospitals) that patients are rating, so you know who are the best practitioners in your areaMedical advice: No more scrolling through PubMed or WebMd- Simply ask your questions, and experts in your condition will answer, and provide online lectures and videosShare with your peers: in addition to experts, fellow patients and caregivers will offer invaluable support and adviceManage your health information: Track your symptoms, treatments and well being over time, so you get a report with trends and recommendation about more efficient treatments. Share it with your doctor to improve your care!Clinical trials matching: Get access to the most innovative treatments years before they are commercially available, by getting matched to FDA approved trials in your area."
Azevan Pharmaceuticals is a clinical stage, small molecule drug development company developing novel therapeutics to treat disorders of stress, mood, and behavior. The Company’s first clinical compounds selectively block the effects of arginine vasopressin, a peptide neurohormone involved in the pathophysiology of Intermittent Explosive Disorder, neuropsychiatric symptoms in neurodegenerative diseases, PTSD, and other affective disorders. Vasopressin 1a receptor antagonists represent a novel mechanism of action for addressing these indications.
The Company completed a Phase II clinical trial with its lead compound, SRX246, for the treatment of Intermittent Explosive Disorder in adults. The primary endpoint and exploratory goals of the trial were achieved. Two additional Phase II clinical trials launched for the treatment of irritability in Huntington’s Disease Patients and for the treatment of PTSD.
Therese Marin will be joining us on Help 4 HD Live to give us a update on her book "Watching Their Dance."
Mary Robertson Knows exactly what it's like to care for someone with Huntington's disease. Mary is a caregiver extraordinaire and offers support, resources and a listening ear to hundreds. Mary sits on the Board of Directors at WeHaveAFace as the Director of Patient Advocacy. Mary often reaches out to people who have no association to HD and teaches them about this disease. Mary also has come into situations that were unplanned where she was able to speak with someone who has Huntington's Disease and was able to offer resources. Join-in to hear Mary's story!
http://www.wehaveaface.org
Ginnievive Patch is the pseudonym used by the author of Help 4 HD's new book, I Fight for Understanding. Ginnievive is both a nurse and a caregiver extraordinaire who has many insightful tips for caregivers. She is a caregiver to her ex-husband, her mother-in-law, and two of her sons, all of whom have Huntington's disease.
Her passion is to educate caregivers and help them survive the turmoil HD/JHD can cause in the early stages, primarily if the psychiatric symptoms outweigh the physical symptoms. She and her ex-husband remain close, making memories. Her motto is, "If I can help one family avoid being shredded apart, then I have accomplished my goal."
HD/JHD is a wild roller coaster, and her goal is to make the ride smoother for others.
I Fight for Understanding is available for purchase from the CreateSpace eStore (https://www.createspace.com/7113258) and on Amazon and Kindle. All net proceeds from the book go to Help 4 HD International's Family Relief Fund.
"ChronicallySmiling.com is a part of Chronic Connect Inc. Chronic Connect Incorporated seeks to serve the chronic illness community by providing resources and community for patients. We will be developing technology that allows patients to find local support, sending care packages to both patients and caregivers in need and creating programs for patient and caregiver support and education. We launched in April of 2017 and are currently applying for our 501(c)(3) license."
Ilana Jacqueline | Executive Director:
"I’m Ilana. I’m a rare and chronic disease patient and patient advocate from Boca Raton, FL. Taking care of my disease has been a struggle over the past few years, and Chronically Smiling is my way of saying thank you to the community who helped support me through some of my roughest flares, educated me on how to be a better patient, and helped me to know that there is life after a difficult diagnosis."
Ilana shares with us who qualifies for assistance from Chronically Smiling, what kind of assistance they provide, and how to apply for that assistance and support.
Stacey and her husband, Terry Sargent, are incredible JHD warrior parents who live outside of Atlanta, Georgia. Terry adopted Stacey's son, Cory, and served, in every sense, as Cory's father, loving him as his own child.
When Cory started school, he had some learning difficulties and a slight speech impairment. When Cory turned 8 yrs old, Stacey and Terry noticed a facial droop and drastic decline in speech. After an MRI, they were told by a neurologist that Cory had Encephalopathy….a big word for degeneration of unknown reason. After some intensive speech therapy, Cory improved. At age 10, Cory started walking on his toes. Again, Stacey and Terry took him to therapy. Cory was fitted with braces and improved. Then at age 13, he had another decline, this time affecting his posture, walking, speech, and his favorite thing, his ability to play video games. Numerous neurologists and tests later, they ended up at Children’s Healthcare of Atlanta, and again, no one believed Stacey when she told them that Cory had once played like other children, until they saw their home movies. On April 9, 2009, shortly after is 15th birthday, Cory was diagnosed with JHD.
Cory was able to graduate from high school, but sadly, on December 12, 2015, he lost his battle with Juvenile Huntington's disease.
When Cory was first diagnosed, Stacey and Terry promised, "As long as there is breath in our bodies, we are going to fight this with Cory, for Cory and all the others affected by this." That was the beginning of Stacey and Terry's advocacy, which includes an annual motorcycle riding event called "Cory's Crusade."
Today, Stacey and Terry talk about their continued advocacy in Cory's memory. We will also hear from Cory's hospice nurse, Lanise Shortell.
Tune in to hear an interview with Deborah Bunting, who is the caregiver for her adult son, Jimmy, who lives with Huntington’s disease. Deborah and Jimmy made a bucket list for Jimmy, and Deborah is fighting to make sure all her son's dreams come true. Recently, Jimmy, with the help of local law enforcement, firefighters, and community members, made it to the top of a lighthouse. Jimmy loves lighthouses, and he's always dreamed of climbing to the top of one. It was a touching moment for Jimmy and his mother when a community came together to make this dream a reality.
Tune in to Help4HD LIVE! On Thursday, April 27th, 2017 to hear from Kisa Heyer, Chief Executive Officer of Dream Foundation.
Kisa Heyer directs the operations of Dream Foundation, the only national dream-granting organization for terminally-ill adults, including programming, development and staff functions, and management of the Board of Directors.
Since her appointment as Executive Director in 2013 and later as Chief Executive Officer in 2016, Heyer has focused on expanding the availability of the services Dream Foundation provides by partnering with the hospice and palliative care industry to fulfill the needs of patients.
Additionally, Heyer has worked to secure corporate partnerships that enable Dream Foundation to fulfill the dreams of thousands of terminally-ill adults each year, including partnerships with Genentech, the Amedisys Foundation, and Southwest Airlines, to name a few.
Heyer is trained as a CPA with nearly ten years of experience in international fixed income operations and management for several investment banks in London. Her leadership helps ensure that Dream Foundation continues to maintain its fiscal responsibility and accountability and maintain Charity Navigator’s four-star rating—its highest—for sound fiscal management, ensuring its donors and partners that their investment will be used wisely.
Heyer is an active member of the local volunteer community, including tenure as Board President of Ganna Walska Lotusland, a Santa Barbara-based nonprofit. There, she actively participated in management operations, long-range planning, development, governance, and finance efforts, and was elected as a Lifetime Honorary Trustee upon completion of her term.
We will discuss who qualifies, how one qualifies, and what is provided when a Dream is granted.
http://www.dreamfoundation.org
Terry Tempkin is an ARNP who worked with Huntington's families for 19 years at the UC Davis HD Canter, helping patients and families through their HD/JHD journey. Terry has retired from UC Davis, but she hasn't retired from HD! She works tirelessly as a volunteer to help educate people about the disease. She is a medical advisor for Help 4 HD International and also sits on the Executive Board of Directors. Today, Terry will share some of the most common issues she's encountered in her work with HD as well as approaches for dealing with those issues. She also has information to share about Help 4 HD's upcoming HIPE (Highly Interactive Participant Education) Day in Kirkland, Washington, this Saturday, April 22.
Samuel Frank, MD,is an associate professor of Neurology at Beth Israel Deaconess Medical Center and Harvard Medical School. After completing his residency and fellowship at the University of Rochester, he joined the neurology faculty at Boston University from 2004 to 2015. Dr. Frank is an active member of the Huntington Study Group, having served as a principal investigator and as a member of HSG’s executive committee. He has also served as a member of HDSA’s Board of Trustees and is the director of the HDSA Center of Excellence at Beth Israel Deaconess Medical Center. Dr. Frank is the inpatient neurology consultant for the specialized Huntington’s Disease service at Tewksbury Hospital. Dr. Frank was the principal investigator for First-HD, a Phase 3 clinical trial investigating deuterated tetrabenazine as a possible treatment for chorea associated with HD. Last week, the FDA approved the new drug based on positive results from the First-HD trial, which was led by the Huntington Study Group (HSG) on behalf of Teva Pharmaceuticals.
Listen in to hear more about The Huntington Study Group and what is coming in the near future.
Heather Hare, Director of Communications & Outreach at HSG, will be on the show today, along with Ann Nelson, a loving wife and caregiver for her husband, David. HSG was founded in 1993 as an organization within the University of Rochester and became a stand-alone 501(c)(3) non-profit in 2012. The Huntington Study Group facilitates high-quality clinical research trials and studies in Huntington’s disease; but that isn’t all they do!
Today we will be discussing what HSG is, a few programs they have coming up and what to look forward to for HSG 2017. During this update we will get to hear from Ann about her and her husband David’s involvement with HSG. To get more info about current Huntington’s disease clinical research and trials, please go to www.huntingtonstudygroup.org . If you have any questions prior to the show,feel free to email Katrina: katrina@help4hd.org
http://huntingtonstudygroup.org/i-am-the-difference/
Jason Evans is an incredible man, and we are excited to have him on Help 4 HD Live! Jason Evans is a farmer, philosopher, and an avid outdoors man. He was born in Oregon but has lived in places like Malaysia, England, and Norway.
Jason’s family is impacted by Huntington’s disease. Jason has taken his love for the outdoors and made it into a way he can raise funds and awareness for Huntington’s disease.
Jason does an annual hike to raise funds for HDSA. When we say hike, we are talking about him covering over 3,100 miles of mountain land! He is an inspiration, and we are very much looking forward to this interview.
Dr. Brown received his MD at Harvard, followed by internship and PM&R residency at the University of Washington, a Master of Public Health at UC Berkeley, and most recently, a fellowship in Multiple Sclerosis (MS) at U. Washington. He is a board-certified member of the American Board of Physical Medicine and Rehabilitation. He has been working in the field of MS since 2003.
Dr. Brown is the Director of Neurorehabilitation at the EvergreenHealth MS Center, EvergreenHealth Neuroscience Institute in Kirkland, Washington. His clinical emphasis is on maximizing function and mobility for patients with MS. Often, MS patients have considerable disability, and management involves a team approach. It is the physician who leads the team, orders medications, and marshals the rehabilitation and referral services, counseling, equipment provision, and exercise prescription for the patient.
Dr. Brown’s research interests are in clinical trials and rehabilitation interventions for MS. He has had numerous research studies in the last five years, including trials to improve walking ability, relieve pain, reduce side effects of medicines, treat bladder dysfunction, and explore complementary treatments, including laughter therapy. His study on the treatment of MS-related pain management won the 2016 International Journal of MS Care Robert Herndon Award, for best paper in the journal in 2015.
He lives in Kirkland, Washington with his wife, Joy, and son, Bendon (8).
Do you need help with applying for disability? Help with paying for prescriptions? Our very special guest today is Heather Fortune, Case Manager II for Caring Voice Coalition, a 501(c)(3) organization that empowers patients who live with a life-threatening chronic disease. They offer comprehensive outreach programs and services aimed at financial, emotional, and educational support. Huntington's disease is one of several diseases that CVC supports. The resources they provide include financial grants to alleviate the burden of medication copayments and health insurance premiums, health insurance counseling, assistance in applying for disability, a patient education program, a prescription discount card, and referrals to other resources. Heather is going to tell us more about the services they offer and will also be available to answer questions from the community! Visit their web site at www.caringvoice.org for a wealth or information or to apply for help, or call them at their toll-free number, (888) 267-1440. Office hours are Monday-Friday, 9:00 a.m.-6:00 p.m.
Join us to learn more about HD Trial Finder, a very important program at HDSA. Without clinical trials, we will never have an FDA-approved drug or therapy for Huntington's disease. HD Trial Finder is an important program because it alerts community members when they would possibly be eligible to participate in a clinical trial.
In honor of Valentine's Day, we are celebrating the very special love that caregivers exhibit every single day as they care for their loved ones who have HD or JHD. Our guests are four amazing women: Barb Sipes, Carla Arriola, Sue Gamble, and Tina Parker Wooldridge. They will share how the disease has changed their relationships and what it has taught them about love. We invite you to join in the conversation by calling in or by posting questions and comments in the chat room.
We'll also give you the latest information about camps for youth whose lives are impacted by HD and about the upcoming Neuro Film Festival. Links for that information are here:
HDYO's North American HD Youth Camp 2017: http://en.hdyo.org/eve/events/524
NYA Youth Retreats 2017: http://nya.hdsa.org/nya-day-retreats
Neuro Film Festival: http://patients.aan.com/go/about/neurofilmfestival
Tune in to hear this very important show. There are so many things to think about before you take the step to be tested for Huntington's disease. Dr. Bonnie Hennig is coming on Help 4 HD Live! to talk about some of those things we need to think about.
Dr. Hennig is the Director at the UConn Health Huntington’s Disease Program. She has over 30 years of experience as a clinical therapist and has worked with people who have HD and their families since October 1999. Dr. Hennig provides counseling to people at-risk, people affected by HD and their family members including pre-symptomatic testing, crisis intervention, supportive counseling, couple and family therapy, continuing care needs, entitlements and benefits. She initiated and co-facilitates an ongoing, monthly caregiver’s support group and provides in-services to health care professionals inConnecticut. She has created a state-wide HD symposium which has been offered free to the public for five consecutive years. Dr. Hennig is nationally and internationally recognized as an expert in the field of talking to children about HD. She has written a book called, “Talking to Kids About Huntington’s Disease: a book for people who know children with HD in their family”. The book has been translated into five languages and she has lectured extensively on this topic as well as other HD related topics in the United States and abroad.
Tune in to hear Dr. Goodman answer questions from the community! Dr. Goodman will also discuss GI (gastrointestinal) and GU (genitourinary) issues often associated with HD.
Brent says, "I have always been very fond of writing and have written a lot of short stories in the past (I even wrote a screenplay once). but none of them have ever been published. For me it is very simple. I want to help people. I don't care about money; I never really have.
"Most of my life, I have been haunted by this disease. For twenty years at least I have had the weight of this on my shoulders. For the most part, I did not talk about it much in those 20 years as I didn't want people to pity me or treat me differently. When I finally decided I was going to go through with it and get tested, I decided to open up more about it to friends and coworkers, and what I found was that my story was not met with pity but that it in fact seemed to inspire people. So perhaps by sharing my story, I could do just that if I wrote about it.
"I would say about 90 percent of 'Look Up' is based on my own experience. I go to Vegas with friends every March, have for about seven years, and I take that time to reflect on my life and think about where I am. The idea for this story has been in my brain for years, but I only recently decided to put it on paper and share it."
In this interview, Brent talks about his story, his life with HD, genetic testing, and survivor's guilt. We also provide information on where to go for help if you or a loved one is considering suicide.
Note: The story includes adult situations and profanity. This is the link to Part 2 of the story: http://help4hd.org/look-part-two-short-story-brent-j-walker/
Brent Walker watched Huntington's disease tear his family apart, although they didn't know at first that it was Huntington's disease. About 20 years ago, he became familiar with Huntington's disease and realized his father was at risk. He later found out that his father was HD positive, putting himself and his two siblings at risk. His journey compelled him to write a gripping short story, "Look Up," which will be published in three installments in The Huntington's Post. Brent is a talented writer, and we look forward to hearing more about his journey and his story during this interview. To read the story, please go to http://help4hd.org/the-huntingtons-post/. Please note: the story includes some adult situations and profanity.
Leah Amberly Barker describes herself as "a 24-year-old who’s still in college, a poet, an author, a spoken word artist, avid nail-biter, lover to the ocean in a fiery affair with the stars, a C- student, hoarder of antiques, seeker of soul mates, advocate for Huntington’s Disease, a definite dog person, Pepsi-over-Coke, sleep talking, manic, prideful little girl who has just about every mental illness in the books.Oh, and #HuntingtonsDisease." Tune in Wednesday, Jan. 11, at 4 p.m. Eastern/1 p.m. Central to hear this amazing young woman talk about her journey with Huntington's disease and her wonderful, honest, heartfelt, touching, inspirational blog, "Capturing the Corners."
Join us to hear an overview of some of Help 4 HD International's programs and projects we ran in 2016. We will also do a sneak peek of some things to come in 2017, including our 5th annual symposium
Kinser became more involved with both HD and JHD after her daughter Meaghan passed from JHD after spending four months in the hospital, with doctors unsure about how to help her. Kinser lost her husband to HD shortly after she lost her daughter.
While Meaghan was in the hospital, Kinser enlisted local news teams and radio stations to do programs to raise awareness for JHD. The local radio station had Kinser on their morning talk show to speak about JHD.
When Kinser lost her daughter and her husband within just a couple of months of each other, she decided it was time to work on starting a nonprofit business in memory of her daughter, “Meg's Fight 4 a Cure, Juvenile Huntington's Disease Foundation, Inc.” Kinser says, “I was appalled at the lack of medical services and places available for children/teens her age that had illnesses that the medical community couldn't handle. Especially JHD. I wanted to raise money for researchers to continue working on medicines and hopefully a cure for this horrible disease. A group of my friends, who are now Board members of my business, began working on a fundraiser to raise these funds to send out to UC Davis in California. The fundraiser was held in September 2016, raising more than $20,000.”
Kinser is a board member of her local Massachusetts HDSA Chapter. She is involved in attending meetings quarterly and helping with the HD walks around the state, Education Days, as well as many other events that the chapter sponsors.
Kinser recently took Meaghan’s service dog, Dixie, and finished putting her through a pediatric training therapy class. Dixie passed the test so that she is now an official K-9s for Kids therapy dog.
Tune in to hear Havanna Lowe talk about her role as a patient advocate in the HD/JHD community. Havanna, who is 17, helps care for her aunt and her cousins while also attending school and working. She's a force to be reckoned with as she advocates for the HD Parity Act and sits on the board of the National Youth Alliance (NYA) at HDSA. In today's interview, Havanna shares what it's like to watch her family live with and pass away from HD and speaks passionately about the importance of HD youth programs and advocating for the HD Parity Act.
Join us on December 7, 2016, to hear Help 4 HD International interview the amazing Lauren Holder. We are going to talk about Lauren's story, some of Lauren's advocacy projects she has done, and about her recent article in Good Housekeeping, "How a Genetic Test Changed My Life." Lauren Holder, from North Carolina, is well known in the HD community. She's been an active patient advocate for a number of years and was instrumental in developing HDSA's law enforcement education program and has conducted several trainings for law enforcement agencies. She helps take care of her dad, who suffers from HD, and faced the ultimate and very personal challenge of whether or not to undergo genetic testing to determine her own HD status. Most recently, Lauren was interviewed by CNN for a series that will air in the spring.
WAVE Life Sciences is a preclinical genetic medicine company focused on advancing first-in-class or best-in-class stereopure nucleic acid therapies for patients impacted by rare diseases. We are utilizing our innovative and proprietary synthetic chemistry platform to design and develop nucleic acid therapeutics that precisely target the underlying cause of rare genetic diseases, with a goal of delivering new and exceptional treatment options for patients. Given the versatility of our chemistry, WAVE’s pipeline spans multiple oligonucleotide modalities including antisense, exon-skipping and single-stranded RNAi, potentially enabling us to address a broad range of therapeutic areas and diseases.
Intro into Ashley Clarke's Blog:
https://kyraashley.wordpress.com/
They say there’s a reason for everything.
So there must be a reason my life is affected by Huntington’s Disease.
And that is the reason for this blog.
My name is Ashley. And I have a story to tell…
At 15 years old, I found out that my father had Huntington’s Disease. It was very hard to come to terms with, and at that point, my father and I weren’t exactly on great terms, due to what the condition was doing to his mind.
My brother and I are my father's sole carers, and we do everything for him, with help from social workers and care assistants, not to mention friends and family.
Huntington’s was difficult to come to terms with, but eventually, and many years later, I have made peace with this affliction. The problems I face now are what will happen in the later stages when Dad can no longer stay at home.
Huntington’s is something you can learn to live with as a carer. I know I am at risk, as my brother also is. And I have gotten used to caring for Daddy and recognising his needs.
Something I will never get used to is the staring, the gossiping, and people being downright ignorant towards my father.
Huntington’s is a silent disease, one that is not always apparent to Jane and John Doe who pass us by on the street. It is one of many diseases that are perhaps not always immediately apparent.
The #ImNotDrunk campaign, and the purpose of this blog, is to educate society on such illnesses and to try to stamp out judgements and uneducated opinions.
Should people who are suffering from terminal illnesses be allowed to choose death with dignity? Should families of loved ones who are suffering from terminal conditions be allowed to “pull the plug”—or even administer lethal doses of medication?
Retired attorney Alan A. Pfeffer, Esq., joins us to talk about this sensitive and controversial topic. Unless you are facing a terminal illness with debilitating suffering that holds no hope of relief or a cure, assisted suicide can be a difficult topic to discuss. Some believe it's a choice that every human being should have; others believe that only God should determine when and how we die. This show will provide you the opportunity to explore your own thoughts and to ultimately decide if this is something you would even consider.
Our incredible guest has a long history with HD. Alan is the Advocacy Chair of the Albany Affiliate of HDSA and is a volunteer on the New York State Department of Health's advisory committee for its Centers of Excellence program for neurodegenerative diseases. He believes that current Death with Dignity legislation unfairly excludes HD patients because of criteria that's impossible to meet. Alan says, "I feel sorry for the HD folks in California because the law that just passed the legislature is the Oregon model." Find out what changes he advocates and why, as well as what he wants the HD community to do about it.
The chat room will be open during our live broadcast for questions and comments.
Help 4 HD International does not advocate for or against Death with Dignity laws. We believe that everyone should be informed about the subject matter in order to make their own educated personal decision. Thank you, Alan, for having the courage to talk openly about this sensitive and controversial topic!
Should people who are suffering from terminal illnesses be allowed to choose death with dignity? Should families of loved ones who are suffering from terminal conditions be allowed to “pull the plug”—or even administer lethal doses of medication?
Retired attorney Alan A. Pfeffer, Esq., joins us to talk about this sensitive and controversial topic. Unless you are facing a terminal illness with debilitating suffering that holds no hope of relief or a cure, assisted suicide can be a difficult topic to discuss. Some believe it's a choice that every human being should have; others believe that only God should determine when and how we die. This show will provide you the opportunity to explore your own thoughts and to ultimately decide if this is something you would even consider.
Our incredible guest has a long history with HD. Alan is the Advocacy Chair of the Albany Affiliate of HDSA and is a volunteer on the New York State Department of Health's advisory committee for its Centers of Excellence program for neurodegenerative diseases. He believes that current Death with Dignity legislation unfairly excludes HD patients because of criteria that's impossible to meet. Alan says, "I feel sorry for the HD folks in California because the law that just passed the legislature is the Oregon model." Find out what changes he advocates and why, as well as what he wants the HD community to do about it.
The chat room will be open during our live broadcast for questions and comments.
Help 4 HD International does not advocate for or against Death with Dignity laws. We believe that everyone should be informed about the subject matter in order to make their own educated personal decision. Thank you, Alan, for having the courage to talk openly about this sensitive and controversial topic!
Pre-recorded at WAVE Life Sciences headquarters in Cambridge, Massachusetts, Katie Jackson interviews three of the leaders of this inspiring 10-year-old company. Paul Bolno is the CEO, Michael Panzara is the head neurologist, and Wendy Erler is the vice president of patient advocacy. WAVE is advancing a diverse pipeline of stereopure nucleic acid therapeutics across a broad spectrum of rare genetic diseases, including Huntington's disease. They share with us the exciting news about their allele-specific gene "snip" (SNP), which could become the first human trial using ASOs in the United States as early as 2017. Preliminary data shows that by targeting the mutant allele, the CAG repeat can be knocked down as much as 20 points. WAVE says their promise is, "Our dedication to excellence in drug development is grounded in our long-term commitment to patients. We will strive to be a true partner to advocacy organizations and patient communities, ensuring that we understand their specific challenges and needs. As we continue to advance our pipeline and grow as a company, we look forward to journeying with patients, their caregivers, and the broader communities that support them."
Join us to hear all about what is going on at HDYO. The Huntington's Disease Youth Organization (HDYO) is a non-profit voluntary organization that provides appropriate information and education, along with support for young people impacted by Huntington's disease.
NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 250 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
Join us to hear about all the exciting speaker and activities that are taking place at this years annual symspoium in Florida.
https://www.research.net/r/symposium-registration
SHAYP (Scottish Huntington's Association Youth Project) has existed for 15 years and provides support to young people aged 8-25 living in families impacted by Huntington's disease throughout Scotland. SHAYP provide one to one support, group work sessions, group activities, residential camps and summer camps throughout the year, along with providing telephone/email/text support and social media interaction. Kirsten Walker is the project manager for the service providing support to young people and the dedicated staff team to ensure the service remains at the forefront of youth support.
Join us to hear Deena Cannastraci interview social worker Lisa Mooney from UC Davis about topics that will help families living with a child with Juvenile Huntington's disease.
Tune in to hear Dr. Goodman speak about Akathisia. Akathisia isa state of agitation, distress, and restlessness that is an occasional side-effect of antipsychotic drugs. visit www.hddrugworks.com to read the whole article about "The Problem(s) with Drug Treatment for HD."
2010 was the start for all involved with the foundation, Talks with MPS; Angela Constance, Fiona Hislop and then Scotland's First Minister; Alex Salmond to ask them to support our foundation so we could achieve our goals and let Scotland be HD / JHD AWARE.
The foundation was awarded charity status April 2011. 2016 Scotland first minister Nicola Sturgeon is well aware of the work the foundation carries out due to Annie MacKenzie having the opportunity to meet the FM had two event for cares of various conditions. Most SNP (Scottish nationalist political party) have at one stage support the be hd aware campaign. Including snp city of Glasgow councillors and west Lothian councillors
the main aims:
• Raise awareness for Huntington's Disease/ Juvenile Huntington's Disease
• The impact HD/JHD can have on the whole family,
• Help to improve care/ support for HD families throughout Scotland, through the means of hosting a variety of event's throughout Scotland.
main points:
• The importance of raising awareness for JHD/ HD within the community reduces stress for the person affected by JHD/ HD and his /her family.
• Awareness prevents the JHD/HD affected member of the family being accused of being drunk, the person with JHD /HD stops going out
• Awareness within the care system can helps put trained support / care in place before the family are emotionally stressed and unable to cope
Events held to date:
• 16 live music events in various counties throughout Scotland
• 7 youth football events
• Talks with professionals
We are the first registered Scottish charity ran by HD family members.
Tune into to hear about all that went on at this years Florida's Police Chiefs Conference. Help 4 HD International had a booth there and was able to bring HD awareness to this very important event!
We are excited to have Roshni Bhatt on Help 4 hd Radio to dicuss her research and background in studying Huntington's disease.
Here is Roshni Bhatt'sresearch interest from her CV.
Research Interest: I have designed an in-silico biochemical pathway for inflammation focusing glucocorticoids receptor signaling. This will help in easy target reorganization and lead generation. My research includes work on β-amyloid, Neurexin & Neuroligin proteins. β-amyloid involved in Alzheimer’s disease forming plaques in cerebrum. This disease is found to be more common in population which contain high carbohydrate levels. Point mutations in Neurexin & Neuroligin are the cause of myeloid leukemia. My area of interest is the complexity of neuroscience; encompassing an array of neurodegenerative disease and Huntington’s disease in particular.
GRAPHICS: During the day I am a graphic designer. My wife, Kathy went from being a fine artist doing mixed media sculptural pieces to helping me in my design business.
CAREGIVING: For over ten years, I was my late wife Kathy's full-time caregiver. She passed away in October from Huntington's Disease. "HD" is the genetic brain disease that took the life of songwriter Woody Guthrie. Kathy was an artist and sculptor. I am planning a memorial exhibit of her work at the Wilbraham Library in Massachusetts in September.
Music: I write songs about everyday life. Most are humorous. Some are serious. They are observations about the things that happen to me and conversations about the stuff I see. While I took care of Kathy I had to stop performing, but I kept writing and recording with friends on the internet.
Back in the late 90s, I appeared at coffee houses and venues throughout the Boston area and New England. Several of my funny car related tunes were on the CarTalk radio show and one song, Peugeot was included on a CD they put out. My early CD, Love on the Line received a great deal of airplay on college and public radi
LINKS:
Music: www.Lehndorff.com/music
To Stream the Huntington's Waltz go to: http://lehndorff.bandcamp.com/track/the-huntingtons-waltz-demo
Lehndorff Design: www.Lehndorff.com/graphics. I also design greeting cards and sell them on a site called Zazzle.
Tune in to hear Dr. Goodman talk about the genetic testing criteria associated with Huntington’s disease. There has been a lot of confusion within the community about genetic testing criteria and what it means. If anyone has questions for Dr. Goodman on this topic or would like to share your story, please tune in and join the chat room, or you can email your questions directly to our host, Katie Jackson, at katie@help4hd-international.org.
Two moms, one at the beginning of her journey and one at the end of her journey, talk about raising a child with JHD. This will be a show full of advicefor families living with JHD from the people who know best, the JHD families.
Samuel Frank is a movement disorder neurologist at Beth Israel Deaconess Medical Center (BIDMC), a teaching hospital for Harvard Medical School. After completing his residency and fellowship at the University of Rochester, he joined the neurology faculty at Boston University from 2004 to 2015. Dr. Frank serves as the principal investigator for a Huntington Study Group study and on the HSG executive committee. He is a member of the HDSA Board of Trustee and locally serves as the director of the HDSA Center of Excellence at BIDMC. Dr. Frank is the inpatient neurology consultant for the specialized Huntington’s Disease service at Tewksbury State Hospital.
Deena is a wife and mother of three beautiful children. Her husband was diagnosed with HD two years ago and is now in the mid stages of the disease. Most recently, her youngest child was diagnosed with childhood-onset JHD at age 4. Her other 2 kids remain at risk for the disease. Deena lives in Florida, where she enjoys spending time with her kids, cooking, reading, and advocating for the HD community, with an emphasis on JHD awareness.
Stacey Sargent is a wife and mother of two incredible children. Stacey is an RN and resides in Georgia. Stacey recently lost her son, Cory Sargent, to JHD. Cory had a smile that could light up a room. His mother is an amazing woman who is still a strong advocate for families that are living with JHD.
Therese Crutcher-Marin, who has a Masters in Health Care Administration, is retired from Sutter Auburn Faith Hospice, having worked in health care for twenty years. She is publishing her first non-fiction book, a heartfelt memoir, whose proceeds will be donated to the Huntington’s Disease Society of America. She lives in Auburn with her husband, John Marin, the surviving sibling of a family devastated by Huntington’s disease.
Tune in to hear Dr. Kyle Fink and Dr. Peg Nolpoulos give us a overview and answer questions about their presentations they recently gave at Help 4 HD International Symposium, Sacramento.
https://vimeo.com/166162213 https://vimeo.com/166162226 https://vimeo.com/166162235 https://vimeo.com/166220289
Wednesday, May 18 at 1:00 pm PST/4:00 pm EST
We are so honored and priviledged to have Dr. Nancy Wexler on Help4HD Live! The "Blond Angel" the "Gene Hunter" as she is so endeard by her subjects, has devoted her life and career as a Geneticist to finding a cure for Huntington's disease which took her mother and many other family members. Find her video interview on One on 1 Profile: Geneticist Dr. Nancy Wexler Leads the Fight Against one of the World's Most Dreaded Hereditary Diseases.
Tune in for this momentous interview...
Find more informaton about Dr. Nancy Wexler, President of the Hereditary Disease Foundation at http://hdfoundation.org/.
The Huntington Study Group is a world leader in facilitating high-quality clinical research trials and studies in Huntington disease (HD). HSG has the first and largest HD clinical research network of over 400 active and compassionate investigators, coordinators, scientists and HD experts at over 100 HSG Credentialed Research Sites across the globe, dedicated to seeking treatments that make a difference and improving the quality of life and outcomes for families affected by HD.
Ray Dorsey, MD, MBA, is the chair of HSG. Ray is also a Professor of Neurology and Director of the Center for Human Experimental Therapeutics and Center for Health and Technology at the University of Rochester Medical Center. Ray investigates new treatments for movement disorders and improves the way care is delivered for individuals with Parkinson and Huntington diseases and other neurological disorders. As an academic neurologist, he is pleased to have devoted much of his professional activities and energies to Huntington disease and the Huntington Study Group. Since joining HSG, he has worked as a site investigator, served on the steering committee for five clinical studies and trials, and led the recently completed phase II clinical trial of PBT2 (Reach2HD) study.
Heather Hare has been the Director of Communications & Outreach for HSG for one year this month. She holds a BA in print journalism from GWU and spent seven years as a newspaper reporter before making the switch to communications in 2005. She spent a decade at the helm of public relations for the University of Rochester’s Golisano Children’s Hospital. Heather focuses on communication and relationships with HSG members, friends, partners and trial and study participants and through the HSG website, printed materials and other communication tools. Her major focus has been on building relationships with families impacted by HD.
Join us to hear Dr. Goodman speak about psychosis. Pyschosis is a symptom associated with Huntington's disease that can have a great impact on familes. Psychosis, like many psychiatric symptoms, may have been symtom that was not talked about. It was often kept as a "family secret." It is a new day that we want to talk about psychiatric symptoms because our loved ones need help. The way we are going to get help is to talk about every symptom associated with HD and let our medical professionals know we need these symptoms addressed. We are thankful for Dr. Goodman to coming on the show and dicussing this very important topic.
In 1986, Jimmy Pollard, a special education teacher by training, found himself managing a specialist unit in a nursing home. Unaware of Huntington’s disease, he rejected for admission a young woman living with it. Her mother gently persuaded him to reconsider and admit her daughter. So began his career working with folks and family touched by HD. Jimmy became interested in how HD’s cognitive changes challenge both people living with it and their carers, and how care settings can accommodate the unique needs of people with HD.
Walking beside Tony, Geri, Carol, Karen, John and Barbara as they travelled their HD roads for 15 years, he began to learn how these changes challenged them every moment and how they went about coping with them. He learned that listening to families and collaborating with professional colleagues is essential to better understanding and, most importantly, to improved care.
In the intervening years, Jimmy has written “A Caregiver’s Handbook for Advanced Stage Huntington’s Disease” and “Hurry Up & Wait! A Cognitive Care Companion for Huntington’s Disease,” which have been translated into eight languages by national HD associations around the world, and has spoken at national HD meetings in Australia, England, Italy, Portugal, Ireland, Switzerland, Poland, Scotland, Canada, and the United States.
Liten to Katrina Hamel talk about all that is going on at Caring 4 HD Affordabilty Shop and Resource Center.
We are exciting to have Lisa Davenport on Help 4 HD Live to talk about her great jouney to find her birth mother. Hear about her going back in time to the 1500's tracking her biologic families hystory trying to find one answer, who was her biologic mother? Lisa is a extrodaniery woman who is very brave and open about telling her fasinating story. Help 4 HD International was honored that Lisa agreed to write a chapter for us in "Life Interrupted" a noval published by Help 4 HD last year. Lisa story will grab you and take you on a ride of emotions. You feel through her story her frustrations, stregnth, sadness, and the joy in her finding her lost family.
Hear Dr. Peg Nopoulos speak about an ongoing study run by her and her research team at the University of Iowa. The study looks at the brain structure and brain function in kids from Huntington's disease families to determine how the brain develops in those at-risk for Huntington's disease from childhood through the course of their lives. She will also speak to us about Kids-JHD and that study that is also taking place at the University of Iowa.
We are excited to have Amanda Miller on the show! Amanda has done wonderful things as far as supporting HD and JHD families. This is going to be a great show for JHD. Amanda has visited schools where a child with JHD is attending to talk to the school about JHD. This is just one of many examples of programs that Amanda has created to support our community.
Amanda Miller has always had a bit of a soft spot for the underdog; as she puts it, those who could use a boost somewhere along the way in their lives. That desire to advocate for people and empower them is in part what led her to where she is today, as the UI HDSA COE’s social worker. “I feel like there’s a responsibility within our society to help take care of each other, and I’m comfortable doing that and enjoy doing that,” Amanda said. “I’m lucky I get to spend every day doing something that I’m passionate about.” On the job since November 2012, Amanda provides social work services for persons and families impacted by HD in the state of Iowa. In addition, she is the Research Manager for the adult HD studies at the University of Iowa. Amanda has two kids, 5 year old Liam and 1 year old Libby, a husband (who cooks better than she does), and is one of 10 kids in her family. When she’s not chasing kiddos, answering phone calls or emails, or spending time with friends, Amanda likes to run, read, laugh, and engage her nerdy side by learning anything she can about neuroscience.
Tune in to hear Vicki Owen and Deborah Bunting discuss all that they are doing to educate law enforcement in the state of Florida.
Sharon Thomason, managing editor at Help 4 HD, talks about her over 30 years of advocacy an being a HD caregiver. She will also speak about what it was like heading up "Life Interrupted." Sharon's son just went through a new genetic test that offers hope for helping treat psychiatric symptoms. As we all know, the trial and error process we have to go through when trying to find effective ways to treat psychiatric symptoms is incedibly frustrating. What if you could take a genetic test that will give the doctor answers on how to more effectively treat our loved ones. This is a new test and as always consult your physician to see if they believe this test would be right for you.
Tune in to hear Dr. LaVonne Goodman speak about the psychiatric symptoms often associated with Huntington's disease. This is the first show to kick off a series of shows, "Breaking the Stigma, Let's Talk Psychiatric Symptoms." One thing that was loud and clear at the FDA Patient-Focus Drug Development meeting this last year is HD families want the FDA to understand the challenges they face with the psychiatric symptoms. The Huntington's Study Group's annual conference had a whole session focused on this very subject. We are looking forward to hearing Dr. Goodman speak about this important topic.
Monday, February 29 at 3:30 pm PST/6:30 pm EST
Join us for a really fantastic show with sisters Dr. Mary Edmondson and Ann Lassiter of HD Reach in North Carolina. Mary the founder of HD Reach and her group has been problem solving about what prevents the HD community from accessing care for their families in North Carolina. Tune in to hear about this very interesting and amazing work that they do in NC. Their motto is: "Access to care for all!"
Call in numbers are 310-982-4227 and 877-497-4103...
Tonight our incredible special guest is Kevin McCormack, the communications director at CIRM, California’s stem cell institute. Kevin is also a dear friend of Help4HD and was a featured keynote speaker at our first symposium in 2014.
He considers himself to be the official translator for the agency, working to turn complex language about equally complex science into everyday English that anyone, including Kevin, can understand. Before joining the agency he spent more than 20 years working as a journalist, most of that in TV news in San Francisco, California.
There is a new leader at CIRM, President and CEO Randy Mills and a new strategic plan. The topic of tonight’s show is CIRM’s new Strategic Plan which aims to engage the patient advocate community to increase the number of clinical trials CIRM funds, to help recruit patients for those clinical trials and to help make changes in the way the FDA works in order to speed up the ability to move promising research into clinical trials in people
So tune in for a very enlightening show!
Tuesday, January 12, 2016 - 3:30 pm PST/6:30 pm EST
Huntington's Disease Care Posted January 10, 2016 by LaVonne Veatch Goodman, M.D.
There have been a number of studies about the impact and burden of Huntington's disease (HD) on both those affected and their family carers. Though there are many other factors, the major recurring theme boils down to "lack of care". This includes lack of access to HD subspecialty medical care, lack of community medical or service provider knowledge about HD, and lack of support for family or other carers. It is unfortunate that the magnitude of burden imposed by "lack of care" for HD has not substantially changed over the two decades or so covered in these studies.
Tune in for a very interesting and eucational program.
TUESDAY, DECEMBER 15, 2015: 3:30 PM PST
The Huntington Study Group (HSG) hosted more than 400 attendees from around the world that included expert clinicians, researchers, and coordinators of clinical studies at their annual meeting in late October. Rounding out this group were representatives from several drug companies, and most importantly individuals and families affected by HD. The highlights listed are just a few of the many presentations but are those that this author thought most important...
TUESDAY, OCTOBER 27, 2015 - 3:30PM PST/6:30 PM EST
Death with Dignity Law is the topic of our show today. This is not an easy topic to talk about, unless, you are facing an ultimately fatal condition with debilitating pain and suffering which has no hope of improvement or cure. Some say this is a choice that we as humans should have, others say it’s playing God. Today’s discussion is going to take you on a journey to explore your own thoughts about what is right, wrong and what is humane and ultimately if this is something you would even consider. Many states now are signing Death with Dignity Law.
Our incredible special guest today is Mr. Alan A. Pfeffer, Esq. who has been lobbying our government to change the criteria for the right to die which is modeled on the Oregon model. Alan says, “I am advocating to get the pending legislation in NY on death with dignity modified so as to permit people with HD to take advantage of the mercy that the legislation is intended to provide. In all the bills throughout the country including what was just passed in California, people with H D are left out.” What? How are people with the worst disease known to man being left out of this law? Well tonight we are going to find out…
Help 4 HD International does not advocate for or against the Death with Dignity Law. Only that everyone should be informed about the subject matter presented in order to educate themselves. We thank Mr. Pfeffer for his courage to talk openly about this very sensitive topic.
TUESDAY, OCTOBER 6, 2015 - 3:30 pm PST/6:30 pm EST
We will be talking about Dr. Goodman's recent article: Antipsychotics and Tetrabenezine: More Rapid Pregression of HD?
Dr. Goodman writes...
In a recent publication in the Journal for Huntington's Disease, Tedroff and collaborators report that antidopaminergic (antipsychotic and tetrabenazine) drugs were associated with more rapid progression of Huntington's disease. Any study showing a factor associated with more rapid progression is important. However the question remains whether these medications "caused" the more rapid progression, or whether those on these medications had a more severe type of HD that would have progressed more rapidly with or without the medications.
What is the take home message from this study for individuals with HD who are taking these drugs?
Tune in to the Ask Dr. Goodman Show. Get your questions and comments ready and call into the show: 310-982-4227 or 877-497-4103... You may also type in your questions in the chatroom while listening to the live broadcast (or) send your questions and/or comments to melissa@Help4HD-International.org.
Talk to you soon!
TUESDAY, SEPT 22, 2015 ~ 2:00 PM PST/5:00 PM EST
Tonight we have two of our most favorite incredible special guests, Dr. Karen Elta Anderson, Director at Georgetown/MedStar HD Clinic and Dr. Andrew Feigin, Director at the HD Center North Shore-LIJ Health System. Both are such esteemed medical professionals and well loved by the families whose lives they touch. They are super stars of Huntington’s disease care and clinical trial investigators. We will be talking about LEGATO-HD, the HSG/Teva clinical trial of Laquinimod. This will be a scripted program, but I want our listeners to know that if you have any questions about this program, please feel free to type it into the chatroom here on BlogTalkRadio or Facebook message your questions to me and we will try to get the answers for you.
Tune in for an amazing program to educate and inspire you. For more information about participating in LEGATO-HD study please talk to your physician or you may call the Huntington Study Group at 800-847-7671 or email at info@hsglimited.org
TUESDAY, SEPTEMBER 15 - 3:30 pm PST/6:30 pm EST
Happy Tuesday everyone! This is Melissa Biliardi, your host. Our call in numbers are 310-982-4227 or 877-497-4103. When you call in press “1” and we will cue you into the show. Thank you 95 thousand listeners for tuning in to Help4HD Radio. Five years ago I never dreamed that we would be closing in on 100 thousand listeners and 220 episodes. I am so proud and happy to be able to introduce amazing guests to you on each show that we do. Tonight is no exception. We have an incredible, intelligent and brilliant research scientist with us Dr. Kyle Fink, who is working with Dr. Jan Nolta in her Lab at the UC Davis IRC. He is working on research to prepare the very first ever Juvenile Huntington’s Disease Research Initiative with stem cell.
Tonight we get to meet Dr. Fink and learn all about his work in Jan’s Lab. All of our hopes and fears lie with getting research funded through all the phases of clinical trials and to the market for our loved one who are suffering from this horrendous disease. Help4HD is taking a stand to support JHD research. Our very own President Katie Jackson held our first Help4JHD Kids Walk in June which was amazing. We were able to raise a small amount of money for Dr. Fink’ research. We know that without research and clinical trials, none of us will have a chance to help our HD community with treatments, therapies or the cure, so I hope there is someone listening out there who can help us too.
Tune in to a very eduational,and inspirational show!
FRIDAY, AUGUST 14, 2015: 2:00 PM EST
Tonight we have a very special show with Dr. Andrew Feigin, Professor of Neurology and Director of the Huntington’s Disease Center at North Shore University Hospital and the Director of the Laboratory of Experimental Therapeutics for Movement Disorders at The Feinstein Institute for Medical Research of the North Shore – LIJ Health System in Manhasset, NY. Dr. Feigin has been involved in HD clinical research for 20 years; he participated in the Venezuela HD project for 10 years beginning in 1993. We will be talking about the new clinical trial called SIGNAL. Tune into a vey exciting new clinical trial using a new approach - a monoclonal antibody called VX15.
THURSDAY, AUGUST 13, 2015: 6:30 PM EST
Tonight we have a very special show with Dr. Ottavio V. Vitolo a neuropsychiatrist and Medical Director at Pfizer Inc. He is the Research Project Lead and Global Clinical Lead for the PDE10 in Huntington’s disease program at Pfizer. We will be discussing the new clinical study for Huntington's disease called Amaryllis. Tune in and meet a incredible brillian man Dr. Vitolo.
Happy Tuesday everyone! This is the Ask Dr. Goodman Show and this is Melissa Biliardi, your host. Tonight our call in numbers are 310-982-4227 or 877-497-4103. When you call in press “1” and we will cue you into the show. Thank you 93,000 listeners for tuning in to Help4HD Radio.
Tonight we are discussing the drug Pridopidine. Dr. Goodman writes in her recent article: Pridopidine and the Hope for HD Neuroprotection
In a new laboratory study from Italy, investigators have reported a very exciting result for Huntington's (HD). Pridopidine, the drug presently in clinical trial for HD was shown -- not just to treat motor symptoms -- but also to provide neuroprotective benefit in a genetic mouse model of Huntington's.
Read her article: http://hddrugworks.org/index.php?option=com_content&task=view&id=353&Itemid=30
Tuesday, June 30, 2015 3:30 pm PST/6:30 pm EST
HDSA's Senior Director, Mission and Scientific Affairs, Dr. George Yohrling will be with us to share information about HDSA's newly launched HDTrialFinder.org site. Together with HD Drug Works, HD Buzz, HSG, Huntington Society of Canada, and CHDI, Help 4 HD International is proud to partner in this effort to bring education about clinical trials together in one place. It provides precise and strategic information to our HD community about clinical trials that they may qualify for in their area.
This collaborative effort is a first to bring all the clinical trial information together on one site, a database where information may be called up according to the inquirer's specific location and criteria. Go to: http://hdtrialfinder.org/ and register.
Other topics of discussion: HDSA's 30th ConventionFDA PDUFA Meeting in September Tune in for a very special show with Dr. George Yohrling!
TUESDAY JUNE 2, 2015 - 3:30 pm PST
Tonight we have a special show with two of Dr. Goodman’s incredible friends who are working directly with the homeless community in Washington State. As many of you know Huntington’s disease sufferers sometimes end up in homeless situations. Well, tonight we are going to meet Rev. Jim Bridges who does amazing work to help the homeless and we also get to hear from our super incredible Elizabeth Valenzuela again. You may remember when she was on the show a year and a half ago when we talked about how she found a man struggling with HD and living in very sad conditions. We have lots to talk about tonight! Let's get your questions ready for the experts on the state of homlessness.