Cure Mito Foundation: The Importance of Patient Registries

In this episode of the podcast we talk with Drs. Julie Gerberding and Courtney Silverthorn from the Foundation for the National Institutes of Health (FNIH). They're bringing us updates on the Bespoke Gene Therapy Consortium's new regulatory playbook that is designed to help get certain types of genetic therapies for rare diseases approved and available to patients more quickly. We're also joined by Sharon King, the Co-Founder of Taylor's Tale a non-profit that advocates on behalf of rare disease patients. She talks about why timely development of gene therapies is so important for people like her daughter, who lived with CLN1 disease. Learn more about the FNIH and the BGTC Regulatory Playbook here. Learn more about Taylor's Tale and the ways there are helping rare disease patients here.  Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02

In this episode of the podcast we talk with Kristina Robinson, a patient advocate and mother whose son, Axel, was diagnosed with hemophilia A when he was 10 months old. That’s a rare bleeding disorder, sometimes called “classic hemophilia,” that is characterized by excessive bleeding from cuts, unexplained bruising, joint swelling and more. Since her son was diagnosed, Kristina has been his #1 champion, advocating for hemophilia awareness in her home state and beyond. Keep up with Kristina and Axel on Instagram! Learn more about hemophilia and ways that you can get involved at the New England Hemophilia Association! Editor's Note: Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02

This episode features Kecia Johnson, an author, music industry veteran and motivational speaker who was diagnosed with HIV/AIDS in her early 20s, and also with a rare form of stage-3 colorectal cancer at age 35. Kecia has been an outspoken patient advocate who has appeared in OutSmart Magazine, Shoutout Atlanta, many different podcasts and also a Walgreen’s ad campaign. Keep up with Kecia: https://linktr.ee/KeciaJ Chronic conditions and rare diseases don’t discriminate. Patient Worthy and our partners are interested in amplifying the voices of those from all identities and backgrounds. If you have a story to share, learn more about how your voice can help spread awareness and inspire individuals from all walks of life here: https://shorturl.at/sPV02

In this episode of the podcast, we speak with Tony Laudadio, an oncology patient advocate who was diagnosed with renal cell carcinoma and oligodendroglioma, a type of rare brain cancer. In the years after his remission, Tony also started the Tony Foundation, a non-profit that helps to support families impacted by all types of cancers with crucial financial aid. Topics Discussed: The importance of a support system, acute diagnoses and financial burden, and more! If you'd like to learn more about the Tony Foundation and the ways in which they are supporting cancer patients, check out their website here. Editor's Note: 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 oncology journey to share, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.

In this episode, we speak with Dr. Emil Kakkis, a physician and scientist who has spent more than 30 years helping to advance research, treatment and policy for rare disease patients. He is also the founder of both the EveryLife Foundation for Rare Diseases and Ultragenyx, a life sciences company dedicated to developing innovative treatments for rare and ultra-rare diseases. Topics discussed: advanced tech and the promise it holds, the key factors in advancing rare therapies, issues standing in the way of treatment access and more. If you'd like to pick up a copy of Dr. Kakkis' book, you can find it at Impositivity Media or at Amazon. You can learn more about Rare Disease Week here. Editor’s Note: 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 an aHUS journey to share or want to connect with others about chronic illness, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.

On this episode of the podcast, we discuss atypical hemolytic-uremic syndrome, also known as aHUS -- a rare disorder characterized by low levels of blood platelets and blood clotting in the small blood vessels of the body. We're joined by Taylor Coffman, whose diagnosis with aHUS during pregnancy inspired her to work as a patient advocate helping those with life-changing diagnoses to process their new reality. Topics Discussed: adapting to a new chronic illness, the intersection of disability and motherhood, learning to be a patient and more. Connect With Taylor Rare Disease Girl Substack Instagram TikTok  Editor’s Note: 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 an aHUS journey to share or want to connect with others about chronic illness, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.

In observance of Alzheimer's Disease Awareness month, we sit down with patient advocate Kathi Herzog -- who was diagnosed with moderate Alzheimer's earlier this year. While not a rare condition, Alzheimer's research has informed the search for treatments in rare neurodegenerative conditions and Kathi's journey to diagosis will probably sound very familiar to the rare community. Kathi's husband, Dave, also joins us to talk about their journey together and why caregivers need support as well. If you'd to learn more about Alzheimer's Disease, check out the resources here. If you'd like to get in touch with Kathi, email her here: [email protected] If you'd like to get in touch with Dave, email him here: [email protected] Editor’s Note: 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 an Alzheimer's Disease journey to share, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.

In this episode of the podcast we discuss neuromyelitis optica spectrum disease (NMOSD), a rare autoimmune disease that effects central nervous system function and can result in symptoms such as pain, vision loss, limb weakness and numbness. Joining us are Dr. Maggie Kang and Nell Choi, mother and daughter patient advocates who talk about NMOSD and their experiences since Nell was diagnosed at a young age. To learn more about NMOSD go here: NMOSD at the National Organization for Rare Disorders You can pick up a copy of Nell's book here: My Hospital Story - Amazon Learn About Dr. Kang's work supporting the wellbeing of parents of children with rare conditions here: MaggieKangMD.com

For Breast Cancer Awareness month, in this episode we're speaking with Jasmine Souers, the president and CEO of the Missing Pink Breast Cancer Alliance about some topics that aren't often covered in mainstream oncology. We discuss the individual genotypes, treatment factors and other considerations that make each case of breast cancer a "rare" experience. We also talk about the experiences of people of color, the "spectrum of need" in patients, and how to build equity in the breast cancer community. If you'd like to learn more about the Missing Pink Breast Cancer Alliance and the work they're doing in the community, you can check out their website at TheMissingPink.org. Also be sure to pick up a copy of their newly-launched More Life Magazine for breast cancer patient stories, perspectives, resources and more! Get your copy today at MoreLifeMag.com. ### 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 breast cancer journey to share, reach out to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.

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.