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

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.

Pemphigus and Pemphigoid: Talking Rare Disease Dermatology

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.

The 2021RAREis Scholarship

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.

Narcolepsy: A 20-Year Journey to Diagnosis

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.

Sharing Patient Voices With Elephants and Tea

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.