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.
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/.
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.
“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/.
Patient Worthy team members Ilana and Sunni talk about mindfulness meditation-- what research is behind it, how can it help chronic pain-- but also, what are its limits? They also chat about their relationship to meditation and personal practices, some thoughts on its shifting place in our culture, and why it's super annoying to tell someone to "just meditate." You can learn more about some of the research discussed on the show at these links: https://news.harvard.edu/gazette/story/2011/01/eight-weeks-to-a-better-brain/, https://www.washingtonpost.com/news/inspired-life/wp/2015/05/26/harvard-neuroscientist-meditation-not-only-reduces-stress-it-literally-changes-your-brain/, https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/1809754?wptouch_preview_theme=enabled. The guided meditation was based off a script found at https://www.mindful.org/.
Putting the pieces back together with Lynzi Russell from the Connecting Families with Urea Cycle Disorder Foundation
Today we're sharing a conversation with Lynzi Russell from the Connecting Families with UCD Foundation. We talk about what urea cycle disorder is and the difficulties of receiving a rare diagnosis in adolescence-- when the world is horrible and transitional and people aren't really respecting your boundaries. Lynzi shares the ups and downs of her experience with UCD- from diagnosis, to rebellion and denial, to a seemingly illegal discrimination incident, all the way back to ownership and acceptance. Also it's our first Zoom interview on the podcast-- and, uh, you can tell. Learn more at https://ucdfamily.org/.
We've got a short episode with Dan Pezatta, a representative from YARR. YARR might sound like a pirate greeting you but it's actually something even cooler: Young Adults of RDLA (RDLA, in turn stands for Rare Disease Legislative Association.) Dan joined Rebekah and Ilana during Rare Disease Week to talk a little about what led him to advocacy, the legislative change he hopes to see, and what it's like to be in a young adult rare disease community.
During rare disease week, we had the chance to talk to Monica Weldon, whose son was the sixth person diagnosed with SYNGAP-1, a gene mutation linked to autism. She tells us about her journey from working as a school teacher to becoming the CEO and founder of Bridge the Gap, the first SYNGAP-1 advocacy organization in the world. She shares what it was like to receive a diagnosis that had no structure in place for her son, and how she pushed through the hard times and make progress in research and awareness of sensory processing disorders. Check out Bridge the Gap online at https://bridgesyngap.org/!
Patient Worthy writer and staff artist, Sunni, joins Ilana to talk about the only thing any of us can talk about: COVID-19. We're not here to scare you. We talk about what we're doing to cope, weird pressures surrounding self-care, and how the rare disease community is especially affected. Here's the article about being blind during the pandemic that we talked about: https://www.bbc.com/news/disability-52118942. Here's a link to the episode of The Daily that brought Ilana a little solace: https://www.nytimes.com/2020/03/13/podcasts/the-daily/coronavirus-relief.html.
Rebekah and Ilana talk with Taylor Kane, who founded Remember the Girls, a nonprofit supporting carriers of X-linked diseases when she was 17. Taylor speaks about her experience with rare advocacy after losing her father to Adrenoleukodystrophy, misconceptions surrounding the word "carriers," and the projects Remember the Girls is working on now (Reproductive toolkits! Provider recommendations!) You can learn more about her work at https://www.rememberthegirls.org/, @rememberthegirls. You can also find Taylor's book, Rare Like Us, here: https://www.amazon.com/Rare-Like-Us-Finding-Plagued-ebook/dp/B07VYL7B49