Wait, How Do You Spell That? A Rare Disease Podcast
The Importance of Getting Involved, Feat. Friedreich‘s Ataxia Advocate Kyle Bryant

The Importance of Getting Involved, Feat. Friedreich‘s Ataxia Advocate Kyle Bryant

December 21, 2021

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.

The Potential of CAR T-Cell Therapy, Feat. Dr. Robyn Stacy-Humphries

The Potential of CAR T-Cell Therapy, Feat. Dr. Robyn Stacy-Humphries

December 15, 2021

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

Not Just Surviving, But Thriving With Pheo vs. Fabulous

Not Just Surviving, But Thriving With Pheo vs. Fabulous

November 12, 2021

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.

Hanging Onto Hope in the Face of AML

Hanging Onto Hope in the Face of AML

October 29, 2021

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.

The Importance of Connection With Jordan‘s Guardian Angels

The Importance of Connection With Jordan‘s Guardian Angels

October 21, 2021

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.

Awareness and Improvement: Discussing Narcolepsy With a Sleep Medicine Doctor

Awareness and Improvement: Discussing Narcolepsy With a Sleep Medicine Doctor

September 27, 2021

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

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

September 22, 2021

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

Building the Connections with the SYNGAP Research Fund

August 31, 2021

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

Making the “Invisible,” Visible With Journalist Karina Sturm

July 30, 2021

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

Cure Mito Foundation: The Importance of Patient Registries

July 16, 2021

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.

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