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

Von Hippel-Lindau Disease: Meet Patient Advocate Justin Corbin

Patient Worthy's award-winning podcast is back! In this episode, we discuss Von Hippel-Lindau Disease. That's a genetic condition that causes constant tumor growth, commonly in the eyes, spine, brain and kidneys. Patient advocate Justin Corbin shares his diagnosis and treatment journey, which stretches from the 1990s today.

Read more about Justin's journey in this interview over at PatientWorthy.com.

To learn more about Von Hippel-Lindau Disease, check out the VHL Alliance.

Chronic conditions and rare diseases don't discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a journey to share, reach out to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.

How to Support the Supporters, feat. The Courageous Parents Network

We speak to Jennifer and Chrissy from the Couraeous Parents Network, one of Patient Worthy's newest partners. CPN is a non-profit organization and educational platform that orients, empowers and accompanies families and providers caring for children with serious illness. Learn more about what they do and how you can get involved over at their website, CourageousParentsNetwork.org.

Be sure to follow CPN on Facebook!

Working Toward the Future, Feat. GACI Global and Inozyme Pharma

On today's episode, we sit down with two of the co-founders of GACI Global, a nonprofit organization centered around families affected by Generalized Arterial Calcification of Infancy. We also speak with the Vice President of Physician and Patient Strategies at Inozyme Pharma, which is pursuing novel therapeutics for the treatment of abnormal mineralization disorders such as GACI. Learn why close cooperation is so important in the development of treatments for rare conditions and why newborn screening is absolutely vital.

Important Links

GACI Global Homepage

GACI Global Worldwide Walk 2022

Inozyme Pharma Homepage

Inozyme Patient Resources

Inozyme Clinical Trial Information

The IRSF: 40 Years of Making Connections

Thank you for sticking with us while we took an unexpected break! We now return to our regular schedule of helping to share the stories of the rare disease community. In this week's episode, we sit down with Melissa Kennedy and Dominique Pichard of the International Rett Syndrome Foundation (IRSF). To learn more about Rett Syndrome and see how you can get involved, visit RettSyndrome.org.

 

The 2022 Living Rare, Living Stronger Patient and Family Forum

In this episode, we sit down with Tiffany Sammons and Pam Mace from our partners over at NORD to preview the upcoming Living Rare, Living Stronger Patient and Family Forum. This exciting yearly event brings together patient advocates and their families from around the world.

Learn more about the Patient and Family Forum, taking place June 26 in Cleveland, Ohio, here.

Follow Nord on social media: Facebook Twitter Instagram LinkedIn

Getting the Support You Need, feat. Cancer Commons

In this episode, we speak with Shelley Frisbie and Dr. Kaumudi Bhawe of Cancer Commons, a non-profit dedicated to providing assistance to advanced cancer patients. We discuss why having a dedicated support team can be so helpful and why every cancer diagnosis is unique.

To learn more about Cancer Commons, visit their website here. You can also connect with them on Facebook, Twitter and LinkedIn.

The Importance of Persistence, feat. Patient Advocate Nathan Ehrlich

In this episode, we speak with Patient Advocate Nathan Ehrlich about SAMD9L mutations and their connection to a range of conditions, including bone marrow failure disorders, cytopenia and ataxia-pancytopenia syndrome. If you'd like to get in touch with Nathan, you can email him at nathan.ehrlich@gmail.com. You can also check out the SAMD9L mutations Facebook support page here.

Forging a Path in Rare Disease Research, Feat. the Myrovlytis Trust

In this episode of the podcast, we meet with our partners at the Myrovlytis Trust to talk about their work in rare disease research.

Keep up with the Myrovlytis Trust and their new initiatives here:

Myrovlytis Trust
www.myrovlytistrust.org
LinkedIn: https://www.linkedin.com/company/the-myrovlytis-trust
Twitter: @Myrovlytis
 
BHD Foundation
www.bhdsyndrome.org
Facebook: https://www.facebook.com/birthoggdube/
Twitter: @BHD_Foundation
BHD Registry: https://birt.healthie.net/register
 
Osteosarcoma Now
www.osteosarcomanow.org
Twitter: @OsteosarcomaNow  

Exciting Rare Disease Developments in the EU, feat. HAE Junior

Hello and Happy Rare Disease Day! This week, we discuss some exciting developments concerning rare disease awareness in the EU, specifically in the Czech Republic, with Camelia Isaic and Anežka Dašková of HAE Junior. To learn more about HAE Junior, click here. More information about HAE Junior art exhibition can be found here. Read more about the EU Council Presidency's focus on rare disease for 2022-2022 here. And keep up with Anežka's YouTube Channel here.

Preview: Rare Disease Week 2022 feat. The EveryLife Foundation for Rare Diseases

Britta Dornan and Sarah Tompkins from the EveryLife Foundation for Rare Diseases join us to preview Rare Disease Week 2022. This important event runs from February 22 through March 2 and brings together rare patients from across the U.S. to make their voices heard. To learn how you can get involved, visit the EveryLife Foundation website here, and follow along with #RAREDC2022 on social media.