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

The Economic Burden of Rare Disease

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

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

Fighting for Access and Awareness With Dreamsickle Kids

Colby speaks with Gina Glass, the founder of the Dreamsickle Kids Foundation in Nevada. Her sickle cell disease organization has helped to raise awareness and form legislation centered around access in that state. Gina speaks about her ongoing efforts, how to support family members with sickle cell, and what's on the horizon. Find out more at www.dreamsicklekids.org.

An Editor Shares Her Cystic Fibrosis Story

Rachel Sutherland, an editor and copywriter with our partners at Snow Companies, shares her cystic fibrosis story. She discusses diagnosis and the importance of establishing a support system.

20 Years of Connections: The Glanzmann's Research Foundation

In this episode, Colby speaks with Taylor Anne Burtz and Peter Zdziarski of the Glanzmann's Research Foundation. Glanzmann's thrombasthenia is rare genetic condition characterized as a blood clotting disorder. Taylor and Peter discuss their personal experiences with the condition and the foundation's goals of connecting patients and advancing research for treatments and a cure.

Find out more information about the Glanzmann's Research Foundation at www.curegt.com.

No Day Wasted: The Adam Settle Story

Sunni speaks with Adam Settle and his family about the new book chronicling Adam's life with cobalamin C deficiency. The genetic condition can cause blindness, nervous system issues and other symptoms. Learn more about Adam and his book here: https://adamsettle.wordpress.com/

As mentioned in the intro, check out the "Fight the Swell" HAE podcast on YouTube here: https://bit.ly/3ojRV9Q

Ilana's New Journey and Ehlers-Danlos Syndrome

In this episode, we say goodbye to Patient Worthy managing editor Ilana. Colby and Ilana also discuss Ehlers-Danlos Syndrome and why diagnosis can be such a long road for patients.

Danny's Dose: Prepare for the Worst and Work Toward the Best

In this episode, Ilana and Rebekah talk with Darlene Shelton, the founder of Danny's Dose. It's a nonprofit dedicated to changing emergency medical protocols for chronic illness and rare disease patients. This conversation was recorded at the NIH Rare Disease Day in Februrary, 2020 -- the last in our series of conversations with patients on the front line of rare disease advocacy.

Rare Reflections: How Illustrator J.G. Jones is Bringing Attention to MPN Patients Through Art

In this episode, Sunni talks with illustrator J.G. Jones, who has worked as a comic book artist for almost 25 years. Jones, who was diagnosed with a type of rare blood cancer, is working on a new project that is bringing attention to myeloproliferative neoplasm patients through a combination of story and illustration.

Rarest of the Rare: Neena Nizar and the Jansen's Foundation

In this episode, Ilana has a conversation with Jansen's Foundation president and founder Neena Nizar. Jansen's Disease is one one of the rarest disorders in the world, with Neena reporting only 10 known cases worldwide when she started her foundation in 2017. This interview was recorded in February 2020 at NIH Rare Disease Day. Since then, Neena reports that the COVID-19 pandemic has understandably slowed some of the Jansen's Foundation's work, but that they are moving things back on track soon.

Read about Neena and her family in the New York Times, here: https://www.nytimes.com/2020/07/07/health/rare-diseases.html