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

37 Years of Research With the TSC Alliance

37 Years of Research With the TSC Alliance

July 2, 2021

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

Staying Strong and Pressing On With the Alagille Syndrome Alliance

June 17, 2021

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

Living Rare, Living Stronger: NORD Patient and Family Forum

June 4, 2021

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

Author Tom Seaman Talks About Adapting to Adversity

May 28, 2021

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

Sophie’s Hope and GSD1B

May 10, 2021

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.

Pemphigus and Pemphigoid: Talking Rare Disease Dermatology

Pemphigus and Pemphigoid: Talking Rare Disease Dermatology

April 23, 2021

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.

Podbean App

Play this podcast on Podbean App