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

Awareness and Improvement: Discussing Narcolepsy With a Sleep Medicine Doctor

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.

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

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.

Building the Connections with the SYNGAP Research Fund

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.

Making the "Invisible," Visible With Journalist Karina Sturm

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.

Cure Mito Foundation: The Importance of Patient Registries

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.

37 Years of Research With the TSC Alliance

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.

Staying Strong and Pressing On With the Alagille Syndrome Alliance

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.

Living Rare, Living Stronger: NORD Patient and Family Forum

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.

Author Tom Seaman Talks About Adapting to Adversity

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.

Sophie's Hope and GSD1B

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.