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

The 2021RAREis Scholarship

The 2021RAREis Scholarship

April 9, 2021

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

Narcolepsy: A 20-Year Journey to Diagnosis

April 2, 2021

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

Sharing Patient Voices With Elephants and Tea

March 12, 2021

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.

The Economic Burden of Rare Disease

The Economic Burden of Rare Disease

February 26, 2021

This week, we speak with Annie Kennedy from the EveryLife Foundation about their groundbreaking study examining the economic burden of rare disease. We're joined by Marissa Penrod from Team Joseph, a Duchenne muscular dystrophy nonprofit to discuss how these numbers assist in rare disease advocacy. Read the full study here: www.everylifefoundation.org/burden-study

Learn more about the EveryLife Foundation for Rare Diseases here: www.everylifefoundation.org

Learn more about Team Joseph here: www.teamjoseph.org

Helping Patients Achieve Their Potential With HAE Junior

Helping Patients Achieve Their Potential With HAE Junior

February 15, 2021

This week, Colby speaks with Camelia Isaic from HAE Junior in the Czech Republic to discuss her organization's ongoing efforts to improve the lives of HAE patients. Find out more about HAE Junior at www.haejunior.cz.

For more information about the Fight the Swell podcast, visit: https://bit.ly/3ojRV9Q

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