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ONCE UPON A GENE - EPISODE 056 Rare Leader - Patricia Weltin, CEO, Beyond the Diagnosis Patricia Weltin shares her organization, Beyond the Diagnosis, an art exhibit with a focus on portraits of rare disease. Their goal is to put a face to all rare diseases through a traveling exhibit around the globe. EPISODE HIGHLIGHTS Can you tell us about your work and about Beyond the Diagnosis? I started working with the Rhode Island Rare Disease Foundation and we had a rare disease day event once per year. Senator Whitehouse reached out to work on a piece of legislation called The Expert Act, to allow the FDA to bring in outside experts. We worked on it, Obama signed it into law and I began to think it was a great business model having an umbrella organization working by state. We moved into Massachusetts, Florida, Pennsylvania and New Jersey. We started the exhibit and everything exploded. Both your daughters have a rare disease? At the time I started working in this space, I thought my youngest daughter didn't have any disease and that my oldest had a different disease called hypomelanosis of ito. She had just had spinal cord surgery and was doing well, back playing tennis. When my oldest turned 18, she deteriorated. She went from being an athlete to not being able to walk, her teeth started falling out and she got cysts in her mouth. My kids have been hypermobile their whole life which I didn't think much of. My younger daughter could dislocate her shoulder and put her head on her shoulder to rest it. Looking back I realize just how hypermobile they both were. The pediatric radiologist told me my oldest daughter had chiari malformation. I started looking at both chiari malformation and ehlers-danlos syndrome and it was everything my daughter was going through. I had my youngest daughter do the beighton scale of mobility and she got a 9 out of 9. I searched for treatments and ways to heal my daughters and discovered supplements that changed their lives greatly. They're never going to be athletes again, but they're not in wheelchairs. Tell us about the art exhibit. It's my passion and an accident that exceeded all our expectations. The first exhibit was 17 portraits of all my friend's kids. Brown University put it in their newspaper and The Rhode Island of Medicine picked it up. Then we did Harvard and had 35 portraits and they put out a press release. We were picked up by Boston Globe Boston Magazine and then CBS Sunday Morning called. There's magic behind the families and the artists that are part of this exhibit. When you see the different art styles, it's really magical. We have artists from all over the world, and now we also have patients from all over the world. For Rare Disease Day, we're doing a virtual museum tour and none of the portraits have been unveiled yet. These will be all portraits that no one has seen and it's going to be amazing.  What is it about the portraits that has touched people and swept the world into connecting with this community? I think when we talk about rare diseases, their eyes glaze over and it's scary for people to think about rare disease if they're not in the community. This art exhibit has humanized patients, they see children and the work is beautiful. I think they're able to connect with a child instead of a disease. And that was the whole point. LINKS AND RESOURCES MENTIONED Beyond the Diagnosis https://www.beyondthediagnosis.org/ Upcoming Exhibitions https://www.beyondthediagnosis.org/currentupcoming Beyond the Diagnosis on Facebook https://www.facebook.com/BeyondTheDx/ The Disorder Channel https://www.thedisordercollection.com/ Rare Disease Day https://www.rarediseaseday.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/