Wait, How Do You Spell That? A Rare Disease Podcast: Recent Episodes
Patient Worthy
Wait How Do You Spell That? is a rare disease podcast produced by Patient Worthy. We talk about issues affecting people rare and underdiagnosed conditions and interview advocates from across the community. We‘re definitely not doctors, and we can‘t give you medical advice. We‘re just here to chat and learn about the diseases that even doctors can‘t seem to spell. Check out the latest in rare disease news at PatientWorthy.com.
Join host Bree Clare as she speaks with Dr. Charles Link, a pioneering oncologist and immunotherapy researcher who's spent decades reshaping the landscape of cancer medicine.
In this episode, Dr. Link breaks down SYNC-T, a revolutionary in-situ immunotherapy platform that's redefining treatment possibilities for hard-to-treat cancers. We'll explore how this multi-target immunotherapy works to educate the immune system to recognize and attack cancer and learn about an exciting Phase 2 clinical trial now enrolling patients with Metastatic Castration-Resistant Prostate Cancer (mCRPC).
Whether you're a patient, caregiver, researcher, or simply seeking hope and inspiration at the frontiers of medicine, this conversation offers a rare glimpse into decades of clinical innovation and the relentless pursuit of better outcomes for cancer patients everywhere.
Listen now for hope, science, and the future of cancer treatment.
And to learn more about Syncromune please visit: Syncromune — Now Enrolling LEGION-100 Trial for mCRPC
or the LEGION-100 trial at LEGION-100 Clinical Trial | mCRPC Prostate Cancer | Syncromune
This podcast episode is sponsored by AVEO Oncology. The product information in this podcast is intended only for US residents. This episode features a real patient and their care partner, highlighting their experiences with a treatment option for advanced kidney cancer. Please note that the patient’s experience is their own and individual results may vary. This podcast is not intended as medical advice. Only a doctor can decide what medications may be appropriate for you. The patient and the caregiver were paid for their time and expenses.
I’m honored to welcome Scott and Katie to the program. Scott’s journey began when he started experiencing symptoms that ultimately led to a diagnosis of renal cell carcinoma, resulting in the removal of his right kidney. At first, no additional treatments were needed. But eventually, after a biopsy of a lesion in his lung, Scott learned that his cancer had returned as stage IV metastatic renal cell carcinoma.
Today, we’re joined by Scott and his wife Katie, who share their journey with advanced renal cell carcinoma – the challenges they’ve faced, the lessons they’ve learned, and the support they’ve discovered along the way. Their story is not only about facing a difficult diagnosis, but also about the strength of partnership, perseverance, and hope.
Through their experience, Scott and Katie remind us that no one has to face kidney cancer alone—there’s a community of understanding and shared strength every step of the way.
Whether you’re a patient, a care partner, or simply someone seeking hope and information, we believe you’ll find inspiration and connection in Scott and Katie’s story.
On today’s episode of ‘Wait, How Do You Spell That? A Rare Disease podcast brought to you by Patient Worthy. We are thrilled to share with you a story that is as powerful as it is inspiring. Our guest today is Lisa Batista, author of the newly released memoir, "Falling: A Journey of Strength, Survival and Rising," which is now available on Amazon, Barnes & Noble, and through her website, labatista.com.
Lisa grew up in Brooklyn, New York, where she navigated the challenges of a walking world while living with Spinal Muscular Atrophy, or SMA. SMA is a rare, genetic disorder that is categorized as weakness and disintegration of muscles due to the loss of neurons in the spinal cord that affects the control of muscle moment and gradually causes increased weakness and loss of muscle function.
In her book, Lisa shares her extraordinary journey—one marked not only by the physical realities of SMA, but also by the misunderstandings she faced from those around her. Often dismissed or accused of laziness, Lisa endured a life shaped by both her diagnosis and the abuse and misfortune that came with not being believed. Despite her muscles growing weaker, Lisa found a path to strength and survival, ultimately rising above the obstacles she faced.
Today, we’ll dive into Lisa’s story—her struggles, her resilience, and what she hopes readers will take away from her memoir. So, sit back, get comfortable, and join us for a conversation about courage, perseverance, and the power of being seen and heard.
To find your copy of Lisa's book:
Amazon - Amazon.com : falling a journey of strength
Barnes & Noble - falling: the journey of strength, survival and rising | Barnes & Noble®
Lisa's Website - Falling - A Journey of Strength, Survival and Rising
To learn more about Patient Worthy and how you can be a guest on Wait, How Do You Spell That? please visit our website at PatientWorthy.com
Patient Worthy is humbled to speak to Brenda Snow, CEO and Founder of Snow Companies and now the bestselling author of 'Diagnosed: The Essential Guide to Navigating the Patient's Journey'. We discuss Brenda's own journey with Multiple Sclerosis and how she has turned it into a career and guidebook for others facing chronic diagnoses.
You can find Brenda's book now at Amazon.com or by going here: Amazon.com : brenda snow book diagnosed
And to watch the full interview with Brenda, please visit our YouTube channel here: Wait, How Do You Spell That? - "Diagnosed: The Essential Guide to Navigating the Patient Journey"
On this episode of the podcast, we discuss the role of artificial intelligence (AI) in medicine – specifically in the areas of analysis and diagnosis. Our guest, Dr. Joe Lennerz, is the chief scientific officer at BostonGene, an American clinical technology company that studies and produces new diagnostic tools in the areas of oncology and immunology.
https://bostongene.com/
In this episode of the podcast we speak to Steve Smith, a patient advocate who is living with Pulmonary Arterial Hypertension (PAH), a rare and progressive condition characterized by narrowing of the blood vessels in the heart and lungs. Steve is a college administrator and avid theater participant who uses his PAH story to connect with others, believing that open communication is key to the patient experience.
Hear More About Steve and Other PAH patients: OutnumberPAH.com
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: getinvolved.patientworthy.com
Outnumber PAH | Living With Pulmonary Arterial Hypertension
Together we can outnumber PAH. Find resources for living with pulmonary arterial hypertension and learn from the stories of people in the PAH community.
In this episode of the podcast we speak to Ashley Point, a patient advocate advocate whose son Davis was diagnosed with Koolen de-Vries Syndrome (KdVS) in 2016. She also serves as the president for both the Koolen de-Vries Syndrome Foundation and My Kool Brother, two non-profits that help to support families living with KdVS through advocacy, research and fundraising.
Connect with Ashley Point: Koolen de-Vries Syndrome Foundation - My Kool Brother - "Davis Out of the Unknown" Documentary - Donate
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: getinvolved.patientworthy.com
In this episode of the podcast we speak to Valen Keefer, a professional speaker and patient advocate who was diagnosed with polycystic kidney disease (PKD) at age 10. Valen has faced a number of challenges in her journey, including a double organ transplant, and now inspires other PKD and chronic illness patients by sharing her story.
Connect with Valen Keefer: Website - Podcast - Facebook - Instagram - X - LinkedIn
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast, we speak to professional speaker and community advocate Keisha Hickson, who was diagnosed with multiple myeloma in 2016. That’s a rare form of cancer that develops in a type of white blood cell called a plasma cell. We discuss navigating a rare cancer diagnosis, adjusting to a new normal and the importance of resiliency.
Connect with Keisha Hickson: Website - Instagram - LinkedIn
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
This episode's guests include Dr. Tracey Dixon-Salazar, Executive Director for the Lennox-Gastaut Syndrome (LGS) Foundation, as well as Meg Alexander, Chief Strategy Officer of Ovid Therapeutics. We discuss the treatment landscape for seizure disorders such as LGS and why further research and investment is crucial.
Connect with the LGS Foundation: Website - Facebook - X (Twitter) - YouTube - Instagram - LinkedIn
Connect with Ovid Therapeutics: Website - LinkedIn - X (Twitter) - Facebook
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast we sit down with Brandi Benson, a U.S. army veteran, author and patient advocate who was diagnosed with Ewing sarcoma in 2008. That’s one of rare family of cancers that develop in bones and the surrounding soft tissues. Brandi shares her story of resilience and survivorship, hoping to inspire others to share their cancer stories story as well.
Connect with Brandi: Website - Facebook - Instagram - YouTube - LinkedIn
Check out Survivorship Today to hear the stories of other cancer survivors like Brandi.
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast we sit down with Kari Rosbeck, the president and CEO of the TSC Alliance. That’s a nonprofit dedicated to supporting people living with tuberous sclerosis complex and also driving research into promising treatment, among many other things. The TSC Alliance is also celebrating its 50th anniversary this year!
Connect with the TSC Alliance: Website - Facebook - Instagram - YouTube - TikTok - LinkedIn - Threads - Inspire
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast we sit down with Ronda Thorington, the mother of child living with mixed connective tissue disease. Ronda is also a licensed professional counselor who specializes in empowering parents of children who are living with a rare or chronic diagnosis.
Connect with Ronda: Website - Facebook - Instagram
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast we sit down with Murray Walz, a patient advocate who was diagnosed with the progressive lung diseases idiopathic pulmonary fibrosis (IPF) in 2019. Murray discusses the importance of support, clinical trials and why the family factor is crucial for IPF patients.
Connect with the Canadian Pulmonary Fibrosis Foundation: Website - Facebook - Instagram - X (Twitter) - YouTube
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast we talk with Jennifer Angus, a patient advocate and para dressage competitor who was diagnosed with multiple sclerosis in 2014. Jennifer has long been involved with athletics having a history as a skiing instructor and is a big advocate of horseback riding as a way to heal the body and mind.
Connect with Jennifer Regarding MS: Website - Instagram - Facebook - X (Twitter) - YouTube
Connect with Jennifer Regarding Para Dressage: Instagram
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast we talk with Drs. Julie Gerberding and Courtney Silverthorn from the Foundation for the National Institutes of Health (FNIH). They're bringing us updates on the Bespoke Gene Therapy Consortium's new regulatory playbook that is designed to help get certain types of genetic therapies for rare diseases approved and available to patients more quickly. We're also joined by Sharon King, the Co-Founder of Taylor's Tale a non-profit that advocates on behalf of rare disease patients. She talks about why timely development of gene therapies is so important for people like her daughter, who lived with CLN1 disease.
Learn more about the FNIH and the BGTC Regulatory Playbook here.
Learn more about Taylor's Tale and the ways there are helping rare disease patients here.
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast we talk with Kristina Robinson, a patient advocate and mother whose son, Axel, was diagnosed with hemophilia A when he was 10 months old. That’s a rare bleeding disorder, sometimes called “classic hemophilia,” that is characterized by excessive bleeding from cuts, unexplained bruising, joint swelling and more. Since her son was diagnosed, Kristina has been his #1 champion, advocating for hemophilia awareness in her home state and beyond.
Keep up with Kristina and Axel on Instagram!
Learn more about hemophilia and ways that you can get involved at the New England Hemophilia Association!
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
This episode features Kecia Johnson, an author, music industry veteran and motivational speaker who was diagnosed with HIV/AIDS in her early 20s, and also with a rare form of stage-3 colorectal cancer at age 35. Kecia has been an outspoken patient advocate who has appeared in OutSmart Magazine, Shoutout Atlanta, many different podcasts and also a Walgreen’s ad campaign.
Keep up with Kecia: https://linktr.ee/KeciaJ
Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02
In this episode of the podcast, we speak with Tony Laudadio, an oncology patient advocate who was diagnosed with renal cell carcinoma and oligodendroglioma, a type of rare brain cancer. In the years after his remission, Tony also started the Tony Foundation, a non-profit that helps to support families impacted by all types of cancers with crucial financial aid.
Topics Discussed: The importance of a support system, acute diagnoses and financial burden, and more!
If you'd like to learn more about the Tony Foundation and the ways in which they are supporting cancer patients, check out their website here.
Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a oncology journey to share, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.
In this episode, we speak with Dr. Emil Kakkis, a physician and scientist who has spent more than 30 years helping to advance research, treatment and policy for rare disease patients. He is also the founder of both the EveryLife Foundation for Rare Diseases and Ultragenyx, a life sciences company dedicated to developing innovative treatments for rare and ultra-rare diseases. Topics discussed: advanced tech and the promise it holds, the key factors in advancing rare therapies, issues standing in the way of treatment access and more.
If you'd like to pick up a copy of Dr. Kakkis' book, you can find it at Impositivity Media or at Amazon.
You can learn more about Rare Disease Week here.
Editor’s Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have an aHUS journey to share or want to connect with others about chronic illness, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.
On this episode of the podcast, we discuss atypical hemolytic-uremic syndrome, also known as aHUS -- a rare disorder characterized by low levels of blood platelets and blood clotting in the small blood vessels of the body. We're joined by Taylor Coffman, whose diagnosis with aHUS during pregnancy inspired her to work as a patient advocate helping those with life-changing diagnoses to process their new reality. Topics Discussed: adapting to a new chronic illness, the intersection of disability and motherhood, learning to be a patient and more.
Connect With Taylor
Rare Disease Girl Substack
Instagram
TikTok
Editor’s Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have an aHUS journey to share or want to connect with others about chronic illness, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.
In observance of Alzheimer's Disease Awareness month, we sit down with patient advocate Kathi Herzog -- who was diagnosed with moderate Alzheimer's earlier this year. While not a rare condition, Alzheimer's research has informed the search for treatments in rare neurodegenerative conditions and Kathi's journey to diagosis will probably sound very familiar to the rare community. Kathi's husband, Dave, also joins us to talk about their journey together and why caregivers need support as well.
If you'd to learn more about Alzheimer's Disease, check out the resources here.
If you'd like to get in touch with Kathi, email her here: kathleenherzog4@gmail.com
If you'd like to get in touch with Dave, email him here: daveherzog4@gmail.com
Editor’s Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have an Alzheimer's Disease journey to share, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.
In this episode of the podcast we discuss neuromyelitis optica spectrum disease (NMOSD), a rare autoimmune disease that effects central nervous system function and can result in symptoms such as pain, vision loss, limb weakness and numbness. Joining us are Dr. Maggie Kang and Nell Choi, mother and daughter patient advocates who talk about NMOSD and their experiences since Nell was diagnosed at a young age.
To learn more about NMOSD go here: NMOSD at the National Organization for Rare Disorders
You can pick up a copy of Nell's book here: My Hospital Story - Amazon
Learn About Dr. Kang's work supporting the wellbeing of parents of children with rare conditions here: MaggieKangMD.com
For Breast Cancer Awareness month, in this episode we're speaking with Jasmine Souers, the president and CEO of the Missing Pink Breast Cancer Alliance about some topics that aren't often covered in mainstream oncology. We discuss the individual genotypes, treatment factors and other considerations that make each case of breast cancer a "rare" experience. We also talk about the experiences of people of color, the "spectrum of need" in patients, and how to build equity in the breast cancer community.
If you'd like to learn more about the Missing Pink Breast Cancer Alliance and the work they're doing in the community, you can check out their website at TheMissingPink.org.
Also be sure to pick up a copy of their newly-launched More Life Magazine for breast cancer patient stories, perspectives, resources and more! Get your copy today at MoreLifeMag.com.
Chronic conditions and rare diseases don't discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a breast cancer journey to share, reach out to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.
Patient Worthy's award-winning podcast is back! In this episode, we discuss Von Hippel-Lindau Disease. That's a genetic condition that causes constant tumor growth, commonly in the eyes, spine, brain and kidneys. Patient advocate Justin Corbin shares his diagnosis and treatment journey, which stretches from the 1990s today.
Read more about Justin's journey in this interview over at PatientWorthy.com.
To learn more about Von Hippel-Lindau Disease, check out the VHL Alliance.
Chronic conditions and rare diseases don't discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a journey to share, reach out to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.
We speak to Jennifer and Chrissy from the Couraeous Parents Network, one of Patient Worthy's newest partners. CPN is a non-profit organization and educational platform that orients, empowers and accompanies families and providers caring for children with serious illness. Learn more about what they do and how you can get involved over at their website, CourageousParentsNetwork.org.
Be sure to follow CPN on Facebook!
On today's episode, we sit down with two of the co-founders of GACI Global, a nonprofit organization centered around families affected by Generalized Arterial Calcification of Infancy. We also speak with the Vice President of Physician and Patient Strategies at Inozyme Pharma, which is pursuing novel therapeutics for the treatment of abnormal mineralization disorders such as GACI. Learn why close cooperation is so important in the development of treatments for rare conditions and why newborn screening is absolutely vital.
Important Links
GACI Global Homepage
GACI Global Worldwide Walk 2022
Inozyme Pharma Homepage
Inozyme Patient Resources
Inozyme Clinical Trial Information
Thank you for sticking with us while we took an unexpected break! We now return to our regular schedule of helping to share the stories of the rare disease community. In this week's episode, we sit down with Melissa Kennedy and Dominique Pichard of the International Rett Syndrome Foundation (IRSF). To learn more about Rett Syndrome and see how you can get involved, visit RettSyndrome.org.
In this episode, we sit down with Tiffany Sammons and Pam Mace from our partners over at NORD to preview the upcoming Living Rare, Living Stronger Patient and Family Forum. This exciting yearly event brings together patient advocates and their families from around the world.
Learn more about the Patient and Family Forum, taking place June 26 in Cleveland, Ohio, here.
Follow Nord on social media: Facebook Twitter Instagram LinkedIn
In this episode, we speak with Shelley Frisbie and Dr. Kaumudi Bhawe of Cancer Commons, a non-profit dedicated to providing assistance to advanced cancer patients. We discuss why having a dedicated support team can be so helpful and why every cancer diagnosis is unique.
To learn more about Cancer Commons, visit their website here. You can also connect with them on Facebook, Twitter and LinkedIn.
In this episode, we speak with Patient Advocate Nathan Ehrlich about SAMD9L mutations and their connection to a range of conditions, including bone marrow failure disorders, cytopenia and ataxia-pancytopenia syndrome. If you'd like to get in touch with Nathan, you can email him at nathan.ehrlich@gmail.com. You can also check out the SAMD9L mutations Facebook support page here.
In this episode of the podcast, we meet with our partners at the Myrovlytis Trust to talk about their work in rare disease research.
Keep up with the Myrovlytis Trust and their new initiatives here:
Myrovlytis Trust www.myrovlytistrust.org LinkedIn: https://www.linkedin.com/company/the-myrovlytis-trust Twitter: @Myrovlytis BHD Foundation www.bhdsyndrome.org Facebook: https://www.facebook.com/birthoggdube/ Twitter: @BHD_Foundation BHD Registry: https://birt.healthie.net/register Osteosarcoma Now www.osteosarcomanow.org Twitter: @OsteosarcomaNow
Hello and Happy Rare Disease Day! This week, we discuss some exciting developments concerning rare disease awareness in the EU, specifically in the Czech Republic, with Camelia Isaic and Anežka Dašková of HAE Junior. To learn more about HAE Junior, click here. More information about HAE Junior art exhibition can be found here. Read more about the EU Council Presidency's focus on rare disease for 2022-2022 here. And keep up with Anežka's YouTube Channel here.
Britta Dornan and Sarah Tompkins from the EveryLife Foundation for Rare Diseases join us to preview Rare Disease Week 2022. This important event runs from February 22 through March 2 and brings together rare patients from across the U.S. to make their voices heard. To learn how you can get involved, visit the EveryLife Foundation website here, and follow along with #RAREDC2022 on social media.
In this episode, we sit down with Dr. Brad Heller, the founder of Achieve Clinics, to discuss the potential of cell therapies, some of the current challenges and how his organization is tackling these. Learn more about Achieve Clinics here: www.achieveclinics.com.
This week, we talk to patient advocate and FA ambassador for the Friedreich's ataxia Research Alliance, Kyle Bryant, about the importance of getting involved in rare disease communities. To learn more about Friedreich's ataxia, visit curefa.org. Listen to Kyle's podcast, Two Disabled Dudes, at twodisableddudes.com.
In this episode, we sit down with Dr. Robyn Stacy-Humphries with Charlotte Radiology. She talks about her diagnosis of diffuse large B-cell lymphoma and treatment with CAR T-cell therapy.
To learn more about CAR T-cell therapy, click here: https://bit.ly/3GIAsAj.
Dr. Stacy-Humphries also recommends a private Facebook group for CAR T-cell patients and their care partners, here: https://bit.ly/3oUvAly
In this episode, we speak with Miranda Edwards, the voice behind Pheo vs. Fabulous about her journey with pheochromocytoma. That's an ultra-rare endocrine tumor that produces adrenaline, characterized by symptoms such as rapid heartbeat and dangerously high blood pressure, among others. Topics discussed: self-advocacy, the importance of awareness, living with a terminal diagnosis and more. Learn more about Miranda and her journey by visiting her website, PheoVsFabulous.com. You can also find out more about pheochromocytoma by visiting the Pheopara Alliance at PheoPara.org.
In this episode, we speak with Dave Cade, an acute myeloid leukemia patient who is in remission after an experimental treatment. We discuss keeping hope in the face of a tough diagnosis and the importance of support. Learn more about AML here.
In this episode, we discuss an ultra-rare genetic condition with Carole Bakhos of Jordan's Guardian Angels. To find out more about Jordan's Syndrome and how you can support this important nonprofit, check out their website here. Their podcast, "A Rare Reality," is available here or on your favorite podcast platform.
In this episode, we discuss narcolepsy and the results of a recent clinical trial investigating FT218 for efficacy in treating excessive daytime sleepiness and cataplexy. Dr. Asim Roy, the medical director of the Ohio Sleep Medicine Institute and a lead investigator in the REST-ON study, joins us.
To learn more about FT218 and the clinical trials, visit www.restore-narcolepsy-study.com.
In this episode, we discuss a condition called periodic paralysis with Dr. Steve Cannon, professor and chairman of the department of physiology at the David Geffen School of Medicine at UCLA and medical advisor with the Periodic Paralysis Association. Periodic Paralysis is a rare genetic disorder that is characterized by attacks of paralysis, weakness, and stiffness in the body. To learn more about this condition, visit the Periodic Paralysis Association here.
This week, we speak with Mike Graglia from the SYNGAP Research Fund about their efforts in advocating for this underdiagnosed genetic condition. Find out more about SYNGAP and the SRF at SyngapResearchFund.org.
In this episode, we speak with journalist and filmmaker Karina Sturm about Ehlers-Danlos Syndrome and disability awareness and inclusion. To learn more about Karina, or to check out her documentary, "We Are Visible," visit her website here.
In this episode, we discuss Leigh Syndrome, a rare mitochondrial disease, with Kasey Woleben and Sophia Zilber of the Cure Mito Foundation. We talk about the importance of patient registries and how rare disease patients and families band together to work for a better future. To learn more about Leigh Syndrome and the Cure Mito Foundation, visit their website at www.curemito.org.
In this episode, we speak with Kari Rosbeck of the TSC Alliance to discuss tuberous sclerosis syndrome, the importance of research and how the organization adapted during the COVID-19 pandemic.
Learn more about tuberous sclerosis complex and the TSC Alliance here.
In this episode, we sit down with Cher Bork and Roberta Smith of the Alagille Syndrome Alliance. We discuss how to support people with this rare condition and preview some upcoming events. To learn more about the Alagille Syndrome Alliance and its efforts visit www.alagille.org.
We sit down with Rebecca Aune and Jack Timperly to talk about the upcoming NORD Patient and Family Forum on June 26 and 27. We discuss what's planned for the event, the annual Rare Impact Awards and why it's important to have rare patients involved in advocacy and educational programs.
To register for the Living Rare, Living Stronger: NORD Patient and Family Forum, click here.
To learn more about NORD, click here.
In this week's episode, we sit down to talk with author, life coach and Patient Worthy contributor Tom Seaman. We discuss his journey through diagnosis with dystonia, how it has changed his approach to life and ways to adapt to adversity. For more information about Tom, visit his website at www.tomseaman.com.
This week, we speak to Jamas LaFreniere, president and founder of the Sophie's Hope Foundation and CureGSD1b -- two nonprofits dedicated to finding a cure for Glycogen Storage Disease Type 1B. GSD is a group of rare metabolic disorders characterized by a missing enzyme that allows the liver to produce glycogen.
Learn how to support the Sophie's Hope Foundation here.
Learn more about the Cure GSD1B Alliance here.
In this episode, we discuss rare disease dermatology with Dr. Steven Chen, MD of Harvard Medical School. Pemphigus and pemphigoid are rare, auto-immune blistering diseases that affect the skin. Learn more about these two conditions at the International Pemphigus and Pemphigoid Foundation. Find out more about Dr. Chen's work in the field of dermatology here.
This week, we speak with Lindsey Cundiff of the EveryLife Foundation for Rare Diseases about the 2021 RAREis scholarship. This fund helps adult rare disease patients achieve their educational goals. We're also joined by Veronica Tingzon, a 2020 scholarship recipient, who talks about her experiences pursuing a nursing degree.
Applications for the 2021 RAREis scholarship just opened. Find out more at www.rarescholarship.org.
This week, we speak with EMT and narcolepsy advocate Tara O'Conner about her recently published article on PatientWorthy.com. Tara talks about her journey to diagnosis, why narcolepsy is an under-diagnosed condition and ways friends and family can be supportive of someone with the condition.
Read Tara's article here.
This week, Colby talks to Nick Giallourakis, the co-founder and executive director of Elephants and Tea, a non-profit media outlet dedicated to sharing patient voices in the adolescent and young adult cancer community.
Find out more about Elephants and Tea here.
Their podcast, "Spilling Tea With the G's" is found on YouTube here.
This week, we speak with Annie Kennedy from the EveryLife Foundation about their groundbreaking study examining the economic burden of rare disease. We're joined by Marissa Penrod from Team Joseph, a Duchenne muscular dystrophy nonprofit to discuss how these numbers assist in rare disease advocacy. Read the full study here: www.everylifefoundation.org/burden-study
Learn more about the EveryLife Foundation for Rare Diseases here: www.everylifefoundation.org
Learn more about Team Joseph here: www.teamjoseph.org
This week, Colby speaks with Camelia Isaic from HAE Junior in the Czech Republic to discuss her organization's ongoing efforts to improve the lives of HAE patients. Find out more about HAE Junior at www.haejunior.cz.
For more information about the Fight the Swell podcast, visit: https://bit.ly/3ojRV9Q
Colby speaks with Gina Glass, the founder of the Dreamsickle Kids Foundation in Nevada. Her sickle cell disease organization has helped to raise awareness and form legislation centered around access in that state. Gina speaks about her ongoing efforts, how to support family members with sickle cell, and what's on the horizon. Find out more at www.dreamsicklekids.org.
Rachel Sutherland, an editor and copywriter with our partners at Snow Companies, shares her cystic fibrosis story. She discusses diagnosis and the importance of establishing a support system.
In this episode, Colby speaks with Taylor Anne Burtz and Peter Zdziarski of the Glanzmann's Research Foundation. Glanzmann's thrombasthenia is rare genetic condition characterized as a blood clotting disorder. Taylor and Peter discuss their personal experiences with the condition and the foundation's goals of connecting patients and advancing research for treatments and a cure.
Find out more information about the Glanzmann's Research Foundation at www.curegt.com.
Sunni speaks with Adam Settle and his family about the new book chronicling Adam's life with cobalamin C deficiency. The genetic condition can cause blindness, nervous system issues and other symptoms. Learn more about Adam and his book here: https://adamsettle.wordpress.com/
As mentioned in the intro, check out the "Fight the Swell" HAE podcast on YouTube here: https://bit.ly/3ojRV9Q
In this episode, we say goodbye to Patient Worthy managing editor Ilana. Colby and Ilana also discuss Ehlers-Danlos Syndrome and why diagnosis can be such a long road for patients.
In this episode, Ilana and Rebekah talk with Darlene Shelton, the founder of Danny's Dose. It's a nonprofit dedicated to changing emergency medical protocols for chronic illness and rare disease patients. This conversation was recorded at the NIH Rare Disease Day in Februrary, 2020 -- the last in our series of conversations with patients on the front line of rare disease advocacy.
In this episode, Sunni talks with illustrator J.G. Jones, who has worked as a comic book artist for almost 25 years. Jones, who was diagnosed with a type of rare blood cancer, is working on a new project that is bringing attention to myeloproliferative neoplasm patients through a combination of story and illustration.
In this episode, Ilana has a conversation with Jansen's Foundation president and founder Neena Nizar. Jansen's Disease is one one of the rarest disorders in the world, with Neena reporting only 10 known cases worldwide when she started her foundation in 2017. This interview was recorded in February 2020 at NIH Rare Disease Day. Since then, Neena reports that the COVID-19 pandemic has understandably slowed some of the Jansen's Foundation's work, but that they are moving things back on track soon.
Read about Neena and her family in the New York Times, here: https://www.nytimes.com/2020/07/07/health/rare-diseases.html
In this episode, managing editor Ilana Bean talks with disease advocate Whitney Carter about her journey to multiple diagnosis and how it led her to getting involved patient awareness. Recorded at the NIH Rare Disease Week in February 2020.
On this episode, Managing Editor Ilana Bean has a conversation with Amy Dahm, the head of Cushing's Support and Research Foundation patient support group for Washington, D.C., Maryland and Virginia. The interview was recorded at Rare Disease Week 2020 in February.
Ilana and Sunni are joined by Annie Kennedy and Lindsey Cundiff from the EveryLife Foundation for Rare Diseases. EveryLife is a nonprofit dedicated to advancing treatment and diagnostic opportunities for rare disease patients through science-driven public policy. In this episode, they discuss the steep road to diagnosis that many rare disease patients face, ways to improve access to treatment and also the economic and social burden of living with a rare disease. Learn more about their mission at EveryLifeFoundation.org.
In this interview from Rare Disease Day at the NIH, Ilana talks to Harsha Rajasimha, the CEO and founder of Jeeva Informatic Systems about how clinical trials can change to better meet rare patient needs-- in the US, India, and across the world. Learn more at www.jeevatrials.com and https://biobuzz.io/this-startup-is-on-a-mission-to-decentralize-cell-and-gene-therapy-trials/.
We're still learning and we're not really the right spokespeople for this subject. However, we also know a podcast about rare disease would be incomplete if we didn't discuss the racism and inequalities Black people in the US face. We're posted a short episode with a brief overview of some of the ways our healthcare system doesn't serve Black people in the US. We encourage you to follow other resources and hope to one day expand further on these topic individually.
Resources:
https://bwhi.org/
https://blackhealthmatters.com/ Links:
https://www.aamc.org/news-insights/how-we-fail-black-patients-pain
https://www.hopkinsmedicine.org/henriettalacks/
https://blogs.scientificamerican.com/voices/silence-is-never-neutral-neither-is-science/
https://www.nytimes.com/2018/05/11/podcasts/the-daily/mortality-black-mothers-babies.html
Hello! We are back with a conversation recorded during rare disease week with Antonio Maltese, a 23-year-old managing Huntington's disease and ostenecrosis. We talk about disappointing medical care, hope for the future, and fears surrounding the diagnoses. Read more about Antonio at these links: https://patientworthy.com/2019/05/23/how-i-turned-huntingtons-into-my-lifes-passion-for-change/ https://patientworthy.com/2020/03/16/help-huntingtons-disease-patient-dvocate-in-need/. You can also find Huntington's support here https://en.hdyo.org/ and https://hdsa.org/.
Patient Worthy team members Ilana and Sunni talk about mindfulness meditation-- what research is behind it, how can it help chronic pain-- but also, what are its limits? They also chat about their relationship to meditation and personal practices, some thoughts on its shifting place in our culture, and why it's super annoying to tell someone to "just meditate." You can learn more about some of the research discussed on the show at these links: https://news.harvard.edu/gazette/story/2011/01/eight-weeks-to-a-better-brain/, https://www.washingtonpost.com/news/inspired-life/wp/2015/05/26/harvard-neuroscientist-meditation-not-only-reduces-stress-it-literally-changes-your-brain/, https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/1809754?wptouch_preview_theme=enabled. The guided meditation was based off a script found at https://www.mindful.org/.
Today we're sharing a conversation with Lynzi Russell from the Connecting Families with UCD Foundation. We talk about what urea cycle disorder is and the difficulties of receiving a rare diagnosis in adolescence-- when the world is horrible and transitional and people aren't really respecting your boundaries. Lynzi shares the ups and downs of her experience with UCD- from diagnosis, to rebellion and denial, to a seemingly illegal discrimination incident, all the way back to ownership and acceptance. Also it's our first Zoom interview on the podcast-- and, uh, you can tell. Learn more at https://ucdfamily.org/.
We've got a short episode with Dan Pezatta, a representative from YARR. YARR might sound like a pirate greeting you but it's actually something even cooler: Young Adults of RDLA (RDLA, in turn stands for Rare Disease Legislative Association.) Dan joined Rebekah and Ilana during Rare Disease Week to talk a little about what led him to advocacy, the legislative change he hopes to see, and what it's like to be in a young adult rare disease community.
During rare disease week, we had the chance to talk to Monica Weldon, whose son was the sixth person diagnosed with SYNGAP-1, a gene mutation linked to autism. She tells us about her journey from working as a school teacher to becoming the CEO and founder of Bridge the Gap, the first SYNGAP-1 advocacy organization in the world. She shares what it was like to receive a diagnosis that had no structure in place for her son, and how she pushed through the hard times and make progress in research and awareness of sensory processing disorders. Check out Bridge the Gap online at https://bridgesyngap.org/!
Patient Worthy writer and staff artist, Sunni, joins Ilana to talk about the only thing any of us can talk about: COVID-19. We're not here to scare you. We talk about what we're doing to cope, weird pressures surrounding self-care, and how the rare disease community is especially affected. Here's the article about being blind during the pandemic that we talked about: https://www.bbc.com/news/disability-52118942. Here's a link to the episode of The Daily that brought Ilana a little solace: https://www.nytimes.com/2020/03/13/podcasts/the-daily/coronavirus-relief.html.
Rebekah and Ilana talk with Taylor Kane, who founded Remember the Girls, a nonprofit supporting carriers of X-linked diseases when she was 17. Taylor speaks about her experience with rare advocacy after losing her father to Adrenoleukodystrophy, misconceptions surrounding the word "carriers," and the projects Remember the Girls is working on now (Reproductive toolkits! Provider recommendations!) You can learn more about her work at https://www.rememberthegirls.org/, @rememberthegirls. You can also find Taylor's book, Rare Like Us, here: https://www.amazon.com/Rare-Like-Us-Finding-Plagued-ebook/dp/B07VYL7B49
Ilana and Rebekah talk about PKU and the time that Ilana participated in the NSPKU's Diet for a Day Challenge. Ilana learns that her experience as a former vegan did not prepare her for this, and why this matters. They also learn how to pronounce phenylketonuria and phenylalanine and honestly, make fools of themselves. Forgive them.
Heads up- this was recorded on site at the NIH and the sound quality isn't great. We're sorry! We're learning! Rebekah and Ilana sit down with Anna Laurent from Our Odyssey, a new nonprofit that provides support to young adults living with rare and chronic illnesses. We talk about Alagille syndrome (ALGS), the perils of young adulthood (especially when managing a rare disease), and the importance of being able to talk with people who get it. You can learn more about Our Odyssey at https://ourodyssey.org/ and on social media @_OurOdyssey_.
Patient Worthy team members Rebekah and Ilana discuss the role of story sharing in the rare disease community. Talking about your experience can be powerful and help forge connections-- but it's also nuanced, deeply personal, and honestly nobody's business if you don't want to share it. Rebekah reads a quote from Rita Charon's book "Narrative Medicine," and also wants to note that, despite what you'll hear on this episode, Charon is actually pronounced more like "Sharon."