Wait, How Do You Spell That? A Rare Disease Podcast podcast

Wait, How Do You Spell That? A Rare Disease Podcast

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.

39 Episódios

  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    Awareness and Improvement: Discussing Narcolepsy With a Sleep Medicine Doctor

    18:58

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    A Lifetime of Research with Dr. Cannon of the Periodic Paralysis Association

    25:46

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

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  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    Building the Connections with the SYNGAP Research Fund

    33:23

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    Making the "Invisible," Visible With Journalist Karina Sturm

    20:35

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    Cure Mito Foundation: The Importance of Patient Registries

    24:01

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    37 Years of Research With the TSC Alliance

    29:25

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    Staying Strong and Pressing On With the Alagille Syndrome Alliance

    26:00

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    Living Rare, Living Stronger: NORD Patient and Family Forum

    26:07

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    Author Tom Seaman Talks About Adapting to Adversity

    28:18

    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.
  • Wait, How Do You Spell That? A Rare Disease Podcast podcast

    Sophie's Hope and GSD1B

    21:52

    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.

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