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

Meditation's relationship with pain, anxiety, and trying not to be sanctamonious

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/.

Young adults changing rare disease legislation, ft. Dan Pezatta from YARR

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.

When your son has the sixth SYNGAP-1 diagnosis in the world- Ft. Monica Weldon from Bridge the Gap

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/!

You're not failing at self-care: staying okay-ish in a pandemic

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.

Not just carriers ft. Taylor Kane from Remember the Girls

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

PKU is NOT like that time I was vegan!

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.

Adulthood is hard! Ft. Anna from Our Odyssey (Live Recording)

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://ourodyssey.org/ and on social media @_OurOdyssey_.

Share your story! But only if you want to.

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."