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

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

A Disease Advocate Gets Personal About Diagnosis and Treatment Denials

In this episode, managing editor Ilana Bean talks with disease advocate Whitney Carter about her journey to multiple diagnosis and how it led her to getting involved patient awareness. Recorded at the NIH Rare Disease Week in February 2020.

Cushing's Syndrome and Service Dogs: Discussing Disease Advocacy With Amy Dahm

On this episode, Managing Editor Ilana Bean has a conversation with Amy Dahm, the head of Cushing's Support and Research Foundation patient support group for Washington, D.C., Maryland and Virginia. The interview was recorded at Rare Disease Week 2020 in February.

Discussing Diagnosis and Access With the EveryLife Foundation for Rare Diseases

Ilana and Sunni are joined by Annie Kennedy and Lindsey Cundiff from the EveryLife Foundation for Rare Diseases. EveryLife is a nonprofit dedicated to advancing treatment and diagnostic opportunities for rare disease patients through science-driven public policy. In this episode, they discuss the steep road to diagnosis that many rare disease patients face, ways to improve access to treatment and also the economic and social burden of living with a rare disease. Learn more about their mission at EveryLifeFoundation.org.

Decentralizing Clinical Trials with Harsha Rajasimha from Jeeva Informatic Systems

In this interview from Rare Disease Day at the NIH, Ilana talks to Harsha Rajasimha, the CEO and founder of Jeeva Informatic Systems about how clinical trials can change to better meet rare patient needs-- in the US, India, and across the world. Learn more at www.jeevatrials.com and https://biobuzz.io/this-startup-is-on-a-mission-to-decentralize-cell-and-gene-therapy-trials/.

Why the healthcare system needs to talk about black health disparities

We're still learning and we're not really the right spokespeople for this subject. However, we also know a podcast about rare disease would be incomplete if we didn't discuss the racism and inequalities Black people in the US face. We're posted a short episode with a brief overview of some of the ways our healthcare system doesn't serve Black people in the US. We encourage you to follow other resources and hope to one day expand further on these topic individually.

Resources:

https://bwhi.org/

https://blackhealthmatters.com/
Links:

 https://www.aamc.org/news-insights/how-we-fail-black-patients-pain

https://www.hopkinsmedicine.org/henriettalacks/

https://blogs.scientificamerican.com/voices/silence-is-never-neutral-neither-is-science/

https://www.nytimes.com/2018/05/11/podcasts/the-daily/mortality-black-mothers-babies.html

"I found out I had Huntington's Disease through a letter in the mail" talking about HD, Ostenecrosis, and the future with Antonio Maltese

Hello! We are back with a conversation recorded during rare disease week with Antonio Maltese, a 23-year-old managing Huntington's disease and ostenecrosis. We talk about disappointing medical care, hope for the future, and fears surrounding the diagnoses. Read more about Antonio at these links: https://patientworthy.com/2019/05/23/how-i-turned-huntingtons-into-my-lifes-passion-for-change/ https://patientworthy.com/2020/03/16/help-huntingtons-disease-patient-dvocate-in-need/. You can also find Huntington's support here https://en.hdyo.org/ and https://hdsa.org/.