TSC Now: Recent Episodes
TSC Now
2024 marks the 50th anniversary of the TSC Alliance, which was founded by four moms in Southern California in 1974. To celebrate the anniversary of the organization, throughout the year TSC Now will feature interviews with some of the people who helped shape this organization.
In this episode host Dan Klein had the distinct pleasure of talking to Shonnie Johnson, a former TSC Alliance board chair, longtime volunteer and supporter of the organization, and grandmother to Annie Johnson, an adult living with TSC.
Learn more about the five-decade history of the TSC Alliance: https://www.tscalliance.org/spotlight-on-tsc-alliance/
Join us in celebrating 50 years by attending our 50th Anniversary Gala in New York City on Friday, October 25, 2024: https://tscalliance.schoolauction.net/50forward/
Can’t make it to the Gala? You can still be part of recognizing 50 years by purchasing a tribute ad or honorary name listing in the 50th Anniversary Commemorative Program Book: https://tscalliance.schoolauction.net/50forward/register/ticket_sales
In a final bonus episode in 2023, host Dan Klein connects with Gloria Triebenbach, Chair of the TSC Alliance of the Pacific Northwest and Step Forward to Cure TSC Walk Chair for the walk in Renton, Washington. Gloria describes herself as a mother of an adult daughter with TSC, honorary mother of a 2nd adult daughter with TSC, and mom of 2 adults without TSC.
“I am an advocate, a wife, a grandma and a nurse. Our family knows good days and we know terrible, horrible days that start with the worst that tuberous sclerosis complex (TSC) can hand out. It takes a huge dedicated team of people to work on issues as big as TSC and my goal is to not stop until TSC is defeated. My family and I give everything, but up!”
Gloria was honored as a Volunteer of the Year at the Volunteer Appreciation Celebration in Washington, DC, part of the TSC Alliance’s annual Volunteer Leadership Summit.
In a bonus episode, host Dan Klein connects with Kristen Moore, Vice Chair of the TSC Alliance of the Carolinas and Step Forward to Cure TSC Walk Chair for the Carolinas Walk. Kristen and her husband, Douglas, moved to Charlotte in 2012 and welcomed their TSC Warrior Jackson to the world in 2019. Jackson was diagnosed with tuberous sclerosis complex (TSC) when he started having seizures at seven weeks old. He underwent laser ablation brain surgery at 17 months. Kristen is a fierce advocate for Jackson and is committed to raising awareness, advocating and fundraising for a better future, services, research, and ultimately a cure, for him and others in the TSC community. Earlier this year, Kristen was honored as a Volunteer of the Year at the Volunteer Appreciation Celebration in Washington, DC, part of the TSC Alliance’s annual Volunteer Leadership Summit.
Kristen shares her family’s diagnostic journey, what motivated her to volunteer, and how the TSC community helped her navigate the waves of this disease.
In this episode, host Dan Klein learns about Pretola Global Health and Consulting Limited and how they advocate for a better future for people living with epilepsy, learning disability and autism around the world. Earlier this year, the TSC Alliance partnered with Pretola on the 4th edition of the Epilepsy Assessment and Management Course, an online course for physicians in low and middle income countries around the world to learn about epilepsy and related comorbidities. This years course featured a lesson on tuberous sclerosis complex (TSC) and featured presentations by Dr. Pradnya Gadgil in India, Professor Anna Jansen from Belgium and Professor Petrus De Vries from South Africa.
Dan talks to Tolu Olaniyan, Bsc LD Nursing, MSc Epilepsy, Founder and CEO of Pretola. She shares how her upbringing inspired her to start the organization, what some of the major barriers are to treatment in low income countries and how through educating frontline physicians she is trying to overcome those barriers.
Learn more about Pretola Global Health Consulting Limited: https://www.pretolaghc.net/
In this episode of TSC Now, host Dan Klein interviews Karen Keough, MD, a child neurologist at Child Neurology Consultants of Austin. Dr. Keough defines drug resistant epilepsy (DRE), explains how lack of seizure control can impact someone’s quality of life and shares some treatment options beyond medication, including surgery, dietary therapies and neuromodulation devices. This episode is sponsored by LivaNova.
Additional resources
- TSC Alliance: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/epilepsy-and-seizure-disorders/
- Epilepsy Foundation of America: https://www.epilepsy.com/
- International League Against Epilepsy: https://www.ilae.org/
- Child Neurology Consultants of Austin: https://www.childneurotx.com/conditions/epilepsy-seizures/
This episode is sponsored by:
On this episode of TSC Now, host Dan Klein recaps the 2023 International TSC Research Conference: Fueling the Future held September 7-9, 2023, in Washington, DC. The conference brought together over 200 researchers from around the world representing a wide array of specialties and the entire spectrum from basic science to clinical research.
The comprehensive three-day agenda included plenary sessions, breakout group discussions, a poster session and reception, as well as an Early Career Research Symposium during which early-stage investigators had the opportunity to report on their cutting-edge research, network, and learn about the diverse paths forward in the field of TSC research. To learn more about how the conference came together, what was discussed and what are some of the outcomes coming from those discussions Dan interviewed the two Co-Chairs of the conference.
First, Dan spoke with with Shafali Jeste, MD, (01:42) Professor of Pediatrics and Neurology at the USC Keck School of Medicine, and the Las Madrinas Chair, Chief of Neurology and Co-Director of the Neurological Institute at the Children’s Hospital, Los Angeles. They discuss the role of the Co-Chair in the planning and execution of the conference, how bringing in outside experts create new avenues for research and collaboration, and how recent clinical trials may provide a blueprint for the standard surveillance and care for infants with tuberous sclerosis complex (TSC).
Next, Dan talks to Rebecca Ihrie, PhD, (14:41) Associate Professor, Cell & Developmental Biology and Neurological Surgery, Vanderbilt University School of Medicine. She shares how basic scientists benefit from interactions with clinical researchers and the TSC community, how new techniques cell biology may allow for more targeted drug testing and how participation in the conference by early-career researchers helps them form connections and determine their future path in research.
Learn more about the 2023 International TSC Research Conference by downloading the program book.
Disclaimer: This episode is sponsored by Nobelpharma America LLC. The opinions expressed are those of the host and guest speaker individually and do not reflect the policies or positions of Nobelpharma. The following content is for informational purposes only. It is not medical advice and is not intended to recommend or suggest a course of treatment or treatment options. Be sure to talk to your doctor about your symptoms and conditions.
In this episode of TSC Now, Dan learns about the findings of an adult panel hosted by Nobelpharma America on Rare Disease Day. He also connects with an adult with tuberous sclerosis complex (TSC) who shares her story.
First, Dan chats with Justine Ravindranath, Commercial Operations Manager at Nobelpharma America (01:37). On Rare Disease Day 2023, Nobelpharma sponsored a panel discussion with a few young adults who have been diagnosed with TSC. One goal of that event was to shed light on some of the challenges young people encounter as they transition into adulthood. Justine talks about how panelists emphasized the importance of a strong support system and stability to navigate these challenges. Finally, they talk about resources available to young adults with TSC, including Face Forward with TSC, a website created by Nobelpharma America and Totally Super Cool, a children’s book about living with TSC that is available digitally on the Face Forward with TSC site.
Next, Dan connects with Iris Mustich (16:07), an adult with TSC and TSC Alliance volunteer who was awarded the Keith Hall Distinguished Leadership Award during the Volunteer Leadership Celebration earlier this year. She shares her experience growing up with TSC, connecting with other adults during the pandemic and what ultimately inspired her to volunteer. She also talks about how it felt being honored by the community, and how she applies both her lived experience and her professional background to support other adults and work to address the unmet needs of the adult community.
Resources and Links:
- Learn more about Face Forward with TSC: https://faceforwardwithtsc.com/
- Request a digital copy of Totally Super Cool: https://faceforwardwithtsc.com/resources/
- Download the Navigating the transition years of TSC Guide: https://www.tscalliance.org/wp-content/uploads/2016/11/NavigatingTransitionYearsOfTSC11-22WEB.pdf
- Learn about resources for Young Adults from the TSC Alliance: https://www.tscalliance.org/individuals-families/young-adults/
- Learn about our Adult Initiative and resources for adults with TSC: https://www.tscalliance.org/individuals-families/adults/
- Register for the 2023 Step Forward to Cure TSC Global Hybrid Walk-Run-Ride: https://give.tscalliance.org/event/2023-step-forward-to-cure-tsc-r-global-hybrid-walk-run-ride/e433629
- Learn about the 2023 Regional TSC & LAM Conference Series: https://www.tscalliance.org/individuals-families/2023conferences/
Sponsored by:
In this episode of TSC Now, host Dan Klein dives deep on a new clinical trial in tuberous sclerosis complex (TSC) called TSC-STEPS. TSC-STEPS is a study to learn more about a drug known as Sirolimus and determine if it can prevent seizures and epilepsy in children diagnosed with TSC. The study is currently enrolling infants diagnosed with TSC who are at risk of developing epilepsy. \
Dan interviews Darcy Krueger, MD, PhD, Director of the TSC Center of Excellence at Cincinnati Children’s Hospital and member of the TSC Alliance Board of Directors (0:59). Dr. Krueger provides an overview of the trial, the eligibility requirements, risks and benefits to participation, and what participation entails for families in terms of site visits and tests. He also discusses how the trial builds off findings of earlier intervention trials and may be part of a greater shift in the paradigm of care for those with TSC. Finally, he provides information about other upcoming and ongoing trials looking for older participants, and encourages everyone listening to help raise awareness of these important trials to help recruit participants and move research forward.
Resources and Links
- Learn more about the TSC-STEPS trial: https://tscsteps.org/
- Learn more about the MILED trial: https://www.thelamfoundation.org/MILED
- Learn more about the Developmental Synaptopathies Consortium: https://www1.rarediseasesnetwork.org/cms/dsc
- Learn more about the Bcureful Travel Fund at the TSC Alliance: https://www.tscalliance.org/individuals-families/bcureful-travel-lodging-assistance/
- Learn more about clinical trial participation: https://www.tscalliance.org/individuals-families/tsc-clinical-trials/
- Check out TSC clinical trials that are currently recruiting: https://trials.tscalliance.org/
In the first episode of TSC Now in 2023, host Dan Klein recognizes International Epilepsy Day (February 13, 2023) and Seizure Action Plan Awareness Week (February 13-20, 2023) by learning about seizure clusters, which are episodes of frequent seizure activity that are distinct from a person’s usual seizure pattern. Seizure clusters may also be called acute repetitive seizures, serial seizures, crescendo seizures or seizure flurries and in every case they are an emergency that often require rescue medication, calling for emergency response or both.
Dan is joined by James Wheless, MD, (01:33) Director of the Neuroscience Institute and Comprehensive Epilepsy Program and Co-Director of the TSC Center of Excellence at Le Bonheur Children’s Hospital, and Professor and Chief of Pediatric Neurology at University of Tennessee Health Science Center. Dr. Wheless describes what seizure clusters are, why they are a medical emergency and how new rescue medications can provide peace of mind to people who suffer from seizure clusters. He also discusses the importance of creating a seizure action plan and how to best implement and refine that plan to make sure it is working. Finally, he emphasizes the importance for parents to meet with their neurologist as soon as they notice irregular seizure activity and to not hesitate to use rescue medication when their loved one experiences an irregular change in the frequency or severity of their seizures.
Resources and Links
- Learn more about International Epilepsy Day: https://internationalepilepsyday.org/
- Learn more about Seizure Action Plans and Seizure Action Plan Awareness Week: https://seizureactionplans.org/
In the final episode of TSC Now in 2022, host Dan Klein connects with two incredible advocates for individuals with disabilities and learns how families can find support to help them with both everyday and long-term decisions for their loved ones.
First, Dan chats with Kelly Piacenti, Head of Special Care at MassMutual (01:24). Kelly shares how her experience managing care for her son with special needs helps her support other parents as they make legal decisions for their children. She debunks common myths about the cost of financial planning, when to start and the need for a special needs trust. She also talks about the importance of a letter of intent as a first step to making a plan and shares what information should be included in a letter of intent. To learn what SpecialCare at MassMutual can do for your family, visit their website or contact Kelly Piacenti at kpiacenti@massmutual.com. You can get additional resources for estate and financial planning in the Resources section of the TSC Navigator.
Next, Dan talks to Megan Cortjens, Executive Director of Our Place (27:37). Our Place is an online community where families with disabilities can connect with other families, share their experiences, find resources in their community, and get assistance from experts on a wide range of topics, including taxes, IEPs, travel, waiver applications and more. Megan shares how the site came to be and she is trying to break silos of information by creating a single place where the disability community can find resources on whatever their biggest challenges are. She shares about some of the major features of the site, including the Knowledge Center featuring easy-to-understand videos on various topics, and the Medicaid map where users can find Medicaid providers in their area. You can learn more about Our Place by going to joinourplace.com.
Links and Resources
- Learn more about SpecialCare and MassMutual: https://www.massmutual.com/lp/specialcare
- Watch a Lunch & Learn interview with Kelly: https://youtu.be/6lfttMG0L2s
- Watch a presentation from Kelly on Guardianship Options, Financial Planning and Government Benefits from our 2021 E-Webinar Series: https://www.youtube.com/watch?v=18ppVaLQZko&ab_channel=TSCAlliance
- Learn more about Our Place: https://www.joinourplace.com/
- Review our aging caregiver checklist: https://www.tscalliance.org/wp-content/uploads/2021/09/Aging-Caregiver-Checklist-.pdf
- Explore our Navigation Guides to understand what to expect at each stage of life: https://www.tscalliance.org/individuals-families/publicationsandsample-letters/
- Learn more about special needs planning from the Special Needs Alliance: https://www.specialneedsalliance.org/
- Learn more about special needs trusts: https://www.natlawreview.com/article/understanding-special-needs-trusts
This podcast is sponsored by:
In a special bonus episode of TSC Now, host Dan Klein learns about a new children’s book called Totally Super Cool, which was developed by Nobelpharma America, LLC. This Podcast is being sponsored by Nobelpharma America LLC. The opinions expressed are those of the speakers individually based on their experience and do not reflect the … Continue reading Episode 40: Totally Super Cool! →
In a special two-part episode of TSC Now, host Dan Klein recaps the 2022 World TSC Conference, which was held in Dallas, Texas July 28-31, 2022. In part two, Dan explores the history of tuberous sclerosis complex (TSC) conferences and speaks to inspiring leaders who have shaped the TSC Alliance’s past and will continue to … Continue reading Episode 39: Inspiring a World TSC Community →
In a special two-part episode of TSC Now, host Dan Klein recaps the 2022 World TSC Conference, which was held in Dallas, Texas July 28-31, 2022. In part one Dan talks to two inspiring and visionary leaders in the tuberous sclerosis complex (TSC) community. On Thursday, July 28, during the opening of the 2022 World … Continue reading Episode 38: Galvanizing a World TSC Community →
In this episode of TSC Now, host Dan Klein celebrates Worldwide LAM Awareness Month (#WWLAM) and raises awareness of lymphanhgioleiomyomatosis (LAM) and a pivotal clinical trial in LAM that is enrolling right now. Dan interviews Frank McCormack, MD, Professor and Director of the Division of Pulmonary, Critical Care and Sleep Medicine at University of Cincinnati … Continue reading Episode 37: The MILED Trial and the Future of LAM Research →
In this episode of TSC Now, host Dan Klein recognizes TSC Awareness Month and the 10th Annual TSC Global Awareness Day! He starts by providing an update on the Step Forward to Cure TSC® Global Hybrid Walk-Run-Ride. Fundraising pages are open until the end of the year, help us reach our goal at stepforwardtocuretsc.org. You can … Continue reading Episode 36: TSC Awareness Month →
In this episode of TSC Now, host Dan Klein recognizes World Autism Month by taking a a deep dive on the past, present and future of autism spectrum disorder (ASD) research in TSC. Dan talks to Shafali Jeste, MD, Chief of Neurology and Las Madrinas Chair at the Children’s Hospital of Los Angeles and Professor … Continue reading Episode 35: The Past, Present and Future of Autism Research in TSC →
In this episode of TSC Now, host Dan Klein recognizes the 20th Anniversary Comedy for a Cure® on Sunday, April 3 at the Avalon in Hollywood, California! To kick off the celebration, Dan learns about the past and present of this amazing events from some dedicated volunteers, and interviews one of this year’s honorees. First, Dan … Continue reading Episode 34: Celebrating 20 Years of Comedy for a Cure →
In a very special early episode of TSC Now, host Dan Klein recognizes International #EpilepsyDay and the kickoff of the second annual Seizure Action Plan Awareness Week. In November 2020, a collaboration of three non-profit organizations, the TSC Alliance, Dravet Syndrome Foundation and Lennox-Gastaut Syndrome (LGS) Foundation, launched the Seizure Action Plan (SAP) Coalition to educate people … Continue reading Episode 33: Noema, Basimglurant and a New Clinical Trial for Seizures in TSC →
In the first episode of TSC Now in 2022, host Dan Klein provides an overview of the upcoming 2022 World TSC Conference, co-hosted by Tuberous Sclerosis Complex International (TSCi), which will be held July 28-31, 2022 and will bring together 1,000 participants from around the globe, including families and individuals with TSC, caregivers, healthcare professionals, … Continue reading Episode 32: The 2022 World TSC Conference →
In the final episode of TSC Now in 2021, host Dan Klein recaps the 2021 Virtual International TSC & LAM Research Conference: Driving Discoveries Beyond Boundaries, presented by Greenwich Biosciences and the Rothberg Institute of Childhood Diseases and co-hosted by the TSC Alliance® and The LAM Foundation. The conference brought together 179 people from 18 countries including … Continue reading Episode 31: The Present and Future of TSC & LAM Research →
In Episode 30 of TSC Now, host Dan Klein kicks of Infantile Spams Awareness Week 2021, an initiative from the Infantile Spasms Action Network (ISAN) that runs December 1-7. ISAN is a collaboration of 32 national and international entities, including the TSC Alliance, focused on raising awareness for infantile spasms, a devastating type of seizure … Continue reading Episode 30: Infantile Spasms Awareness Week 2021 →
In Episode 29 of TSC Now, host Dan Klein highlights TSC Navigator, an easy-to-use, interactive online tool to help guide individuals and families through the complexities of tuberous sclerosis complex (TSC) across the lifespan, proactively manage their care and live their fullest lives. TSC Navigator was launched in October 2021 and includes sections on “Beginning … Continue reading Episode 29: The TSC Navigator →
In a very special episode of TSC Now, host Dan Klein provides a sneak peek of the 19.5 Annual Comedy for a Cure® on Sunday October 17 at 7:30 pm Eastern/ 4:30 pm Pacific! This will be a hybrid event, so if you live in Southern California and are fully vaccinated you can attend in-person … Continue reading Episode 28: Comedy for a Cure® 2021! →
In Episode 27 of TSC Now, host Dan Klein learns how parents can prepare for the start of a new school year despite the ongoing pandemic. Dan also talks to a licensed professional counselor to get advice on how parents and caregivers can cope with the stress, anxiety and trauma the last year and a half … Continue reading Episode 27: Going Back to School and Caring for the Caregiver →
In Episode 26 of TSC Now, host Dan Klein takes a deep dive into one of the newer and exciting frontiers in TSC research: Newborn Screening. Last Fall, the TSC Alliance hosted an Innovation Workshop that brought together TSC researchers, newborn screening experts and other nonprofits with experience advocating for other diseases to be included … Continue reading Episode 26: The Road to Newborn Screening in TSC →
In Episode 25 of TSC Now, host Dan Klein recognizes Worldwide LAM Awareness Month (#WWLAM) by focusing on lymphangioleiomyomatosis (LAM), a rare lung disease affecting women that is characterized by an abnormal growth of smooth muscle cells, especially in the lungs, lymphatic system and kidneys. LAM is caused by mutations in the same gene(s) as TSC and is a common manifestation for women with TSC but can also occur sporadically with no other TSC manifestations. To help raise awareness of LAM on the last day of Worldwide LAM Awareness Day, this episode will focus exclusively on LAM, research being done to develop new treatments and ultimately a cure, and the organization that is leading the charge to improve the lives of women with LAM in the US.
First, Dan talks to Sue Sherman, MHA, Chief Executive Officer of The LAM Foundation (02:18). The LAM Foundation was founded in 1995 by a mother of a woman with LAM with a mission to urgently seeks safe and effective treatments, and ultimately a cure, for lymphangioleiomyomatosis through advocacy and the funding of promising research. They are dedicated to serving the scientific, medical and patient communities by offering information, resources and a worldwide network of hope and support. They discuss how The LAM Foundation has changed over the years, how their investment in research has helped pave the way for breakthroughs, how the organization pivoted during the COVID-19 pandemic, and how they are raising awareness of LAM during Worldwide LAM Awareness month.
Next, Dan talks to Hilaire Lam, PhD (14:22), Research Associate in the Division of Pulmonary and Critical Care Medicine at Brigham and Women’s Hospital and an instructor in medicine at Harvard Medical School. The ultimate goal of Dr. Lam’s research is to leverage mTORC1-driven mitochondrial alterations to uncover therapeutic targets for TSC and LAM. She shares more about the aims of her research, how she first became interested in LAM, what gaps exist in our understanding of LAM and how researchers are currently looking to address those outstanding questions to develop new therapies. She also discusses how she is motivated by women living with LAM and how their relentlessness inspires her to help find a cure.
Earlier this month in recognition of Worldwide LAM Awareness Month, the TSC Alliance hosted an e-webinar titled “LAM in TSC: Surveillance, Treatment and Research” presented by Souheil Y. El-Chemaly, MD, Clinical Director of the Center for LAM Research and Clinical Care at Brigham and Women’s Hospital. The webinar covered surveillance, management and treatment recommendations based on the latest consensus guidelines, clinical trials currently taking place and a look to the future of research in LAM. A recording of the presentation will be available on our e-webinars website soon at tscalliance.org/e-webinars.
Resources and Links
- Visit The LAM Foundation’s website: https://thelamfoundation.org/
- Learn more about Worldwide LAM Awareness Month: https://thelamfoundation.org/WorldwideLAMAwarenessMonth
- Learn more about LAM in TSC: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/lungs/
- Follow The LAM Foundation on social media:
- Facebook – https://www.facebook.com/TheLAMFoundation
- Twitter – https://twitter.com/LAMFoundation
- Instagram – https://www.instagram.com/thelamfoundation/
- LinkedIn – https://www.linkedin.com/company/the-lam-foundation/
- YouTube – https://www.youtube.com/channel/UCYldYVWkpHqEvL0ETHND43g
- Check out Journeys, a comprehensive blog on LAM research, patient advocacy, education and awareness provided by The LAM Foundation: https://thelamfoundation.org/Blog
- Join The LAM Foundation Community to receive their emails: https://www.thelamfoundation.org/Take-Action/Join-The-LAM-Foundation-Community
It’s the two-year anniversary of TSC Now and we’re celebrating with a new name, the TSC Alliance! If you missed our announcement on May 16, the Tuberous Sclerosis Alliance has changed our name to the TSC Alliance to reflect how the organization has evolved over the years and with the name change we also have a new logo, new branding and a new tagline, “Hope no matter how complex.” Learn more about this evolution.
In recognition of #TSCGlobalDay and TSC Awareness Month, host Dan Klein learns about two global collaborative projects aimed at improving the lives of those living with rare diseases around the world. First, he talks to Matt Bolz-Johnson (02:44), Programme Director of the Collaborative Global Network for Rare Diseases at Rare Diseases International (RDI), who is leading a partnership with the World Health Organization to develop the first Collaborative Global Network for Rare Diseases. RDI envisions a world where people living with a rare disease, no matter where they live, can reach a network of expertise for accurate and timely diagnosis and appropriate care and believe that to strengthen health systems to address the needs of the 300 million people worldwide living with a rare disease requires common strategies and action at the national, regional and global level. The TSC Alliance and the TSC Alliance of India have partnered with RDI to help advance this project and Dan and Matt discuss how advocacy organizations play a vital role in the global network model.
Then, Dan catches up with Professor Petrus de Vries, MBChB, FRCPsych, PhD, Sue Struengmann Professor of Child & Adolescent Psychiatry at the University of Cape Town, South Africa, and Professor Anna Jansen, MD, PhD, Pediatric Neurologist at Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel in Belgium (18:12). Petrus and Anna are Principal and Co-Principal Investigators of the TANDem Project, an international effort to improve the lives of families dealing with TSC-associated neuropsychiatric disorders (TAND) through the development of technology empowering families to self-administer the TAND checklist and access tools to address specific TAND manifestations. They provide an update on the project, what they’ve learned through the first year and a half working with the various clusters, and what the timeline and aims are for the future.
Thank you to everyone who has listened and supported TSC Now over the last two years, we will continue to work hard to provide entertaining and valuable content for families and individuals affected by tuberous sclerosis complex.
Resources and Links
- Learn more about Rare Diseases International: https://www.rarediseasesinternational.org/
- Learn more about the Collaborative Global Network for Rare Diseases: https://www.rarediseasesinternational.org/cgn4rd/
- Watch Matt present on the Collaborative Global Network and Universal Health Coverage: https://www.youtube.com/watch?v=RsDxadzNs7A&ab_channel=RareDiseasesInternational
- Learn more about TSC-Associated Neuropsychiatric Disorders: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/
- Learn more about the TANDem Project: https://tandconsortium.org/
- Download the TAND Checklist in multiple languages: https://tandconsortium.org/checklists/
- Submit tips to the project team on how your family manages TAND manifestations: https://tandconsortium.org/checklists/
In Episode 23 of TSC Now, host Dan Klein recognizes World Autism Month and Autism Acceptance Month by learning more about autism spectrum disorder (ASD) in tuberous sclerosis complex (TSC). ASD occurs in nearly 50% of children with TSC, significantly higher the rate in the general population (roughly 1% worldwide). Additionally, there is a very clear link between ASD and cognitive impairment in TSC.
To better understand the connection between autism and TSC, and how ongoing research can help expand our knowledge of autism not just in TSC, but more generally, Dan spoke to Mustafa Sahin, MD, PhD, (02:11) Director of both the Translational Neuroscience Center and the Multi-Disciplinary Tuberous Sclerosis Program at Boston Children’s Hospital, and Professor of Neurology at Harvard Medical School. Dr. Sahin is one of the Principal Investigators of the TSC Autism Center of Excellence Research Network, otherwise known as TACERN. TACERN is a coalition of five research hospitals: Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of California at Los Angeles and University of Texas at Houston. The group was formed in 2012 and received a grant from the NIH to better understand autism in TSC and to identify potential biomarkers that could predict what children were at higher risk of cognitive manifestations. From that initial grant 80 papers have been published on a wide range of discoveries in TSC. Dr. Sahin shares some of the discoveries from the last decade, how discoveries made in autism in TSC have wider implications for autism in general, the current progress on identifying biomarkers, and what questions remain.
Finally, we are officially two weeks away from the Step Forward to Cure TSC® Global Virtual Walk-Run-Ride on May 15 and 16, coinciding with TSC Global Awareness Day. This historic, world-wide event will bring together thousands of people from across the globe, all working together to champion the Tuberous Sclerosis Alliance’s efforts to fund groundbreaking research, offer critically needed support programs and increase awareness. Our goal is to raise $700,000 toward that mission, and there is still time for you to donate, register and fundraise to help us hit that goal. However you participate, your support makes a tangible difference in the lives of everyone with TSC. Learn the many ways you can get involved at www.stepforwardtocuretsc.org. Thank you to both the National and Local sponsors for championing this amazing event!
National Sponsors
Local Sponsors
Resources and Links
- Learn the basics of autism in tuberous sclerosis complex: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tsc-and-autism-spectrum-disorders/
- Learn more about World Autism Month: https://www.autismspeaks.org/world-autism-month
- Learn more about Autism Acceptance Month: https://www.autism-society.org/get-involved/national-autism-awareness-month/
- Learn more about TACERN: http://tscstudy.com/
- Learn more about the Developmental Synaptopathies Consortium: https://www.rarediseasesnetwork.org/cms/dsc/
- Learn more about the current studies going on at the Sahin lab: http://sahin-lab.org/
- Re-Watch the 2021 E-Webinar TAND: Early Interventions featuring Drs. Shafali Jeste and Connie Kasari: https://youtu.be/BlTmJ4qUoMk