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....
Sep 11, 2020•15 min•Ep. 16
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.
Aug 21, 2020•27 min•Ep. 15
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.
Aug 13, 2020•25 min•Ep. 14
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...
Jul 17, 2020•35 min•Ep. 13
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/.
Jul 07, 2020•20 min•Ep. 12
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/ h...
Jun 11, 2020•27 min•Ep. 11
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 ...
May 22, 2020•23 min•Ep. 10
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...
May 12, 2020•40 min•Ep. 9
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 accepta...
May 04, 2020•34 min•Ep. 8
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.
Apr 29, 2020•17 min•Ep. 7
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...
Apr 17, 2020•33 min•Ep. 6
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...
Apr 09, 2020•36 min•Ep. 5
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 a...
Apr 02, 2020•21 min•Ep. 4
Ilana and Rebekah talk about PKU and the time that Ilana participated in the NSPKU's Diet for a Day Challenge. Ilana learns that her experience as a former vegan did not prepare her for this, and why this matters. They also learn how to pronounce phenylketonuria and phenylalanine and honestly, make fools of themselves. Forgive them.
Mar 26, 2020•33 min•Ep. 3
Heads up- this was recorded on site at the NIH and the sound quality isn't great. We're sorry! We're learning! Rebekah and Ilana sit down with Anna Laurent from Our Odyssey, a new nonprofit that provides support to young adults living with rare and chronic illnesses. We talk about Alagille syndrome (ALGS), the perils of young adulthood (especially when managing a rare disease), and the importance of being able to talk with people who get it. You can learn more about Our Odyssey at https://ourody...
Mar 24, 2020•25 min•Ep. 2
Patient Worthy team members Rebekah and Ilana discuss the role of story sharing in the rare disease community. Talking about your experience can be powerful and help forge connections-- but it's also nuanced, deeply personal, and honestly nobody's business if you don't want to share it. Rebekah reads a quote from Rita Charon's book "Narrative Medicine," and also wants to note that, despite what you'll hear on this episode, Charon is actually pronounced more like "Sharon."
Mar 12, 2020•27 min•Ep. 1
