The Life of an Angel Diagnosed with Blau Syndrome with Cheryl-Lynn Townsin

Cheryl-Lynn Townsin is the mom to Lexi and Felix and the Director of the film, Me, My Sister and Blau. I fell in love with this family when I saw their film and their story has really stuck with me. Cheryl is joining me to share memories of Lexi and the grief that remains from their loss. Lexi's older brother Felix is changing the world and he's incredible. This family fights every day to continue Lexi's legacy of love and they're determined to find a cure for those affected by Blau Syndrome. EPISODE HIGHLIGHTS Can you share a bit about Lexi and her diagnosis? Lexi was born in December 2012. She had a few health concerns when she was born and was in NICU for awhile. After two weeks, she was as strong and amazing as ever. When Lexi was about 6 months old when she got pneumonia and was hospitalized. She pulled through it, but then started getting rashes. We went to an immunologist, but we weren't able to identify a food or environmental sensitivity. Just before her first birthday, Lexi was seen by a rheumatologist and we were told that she had Juvenile Idiopathic Arthritis. Six months later we saw a dermatologist, she ran tests and we got a Blau Syndrome diagnosis one month later.  Did you seek out a Blau Syndrome community or was it a process? When we thought Lexi had Juvenile Idiopathic Arthritis, we thought that was a small community, but we moved on from that to another level of isolation when Lexi was diagnosed with Blau Syndrome. I found a community support group and connected with them.   What was the prognosis of Blau Syndrome that you were given? What ultimately happened to Lexi when she passed? Can you share with us what Felix is doing to raise awareness for Blau Syndrome? What is the status of the Blau Syndrome research to date? LINKS AND RESOURCES MENTIONED The Disorder Channel https://www.thedisordercollection.com/ The Boy With a Thorn in His Joints https://www.nytimes.com/2013/02/03/magazine/the-boy-with-a-thorn-in-his-joints.html Global Genes https://globalgenes.org/ Cure Blau Syndrome Foundation https://www.curebs.com/ Me, My Sister and Blau https://www.rarediseasefilmfestival.com/work#/me-my-sister-and-blau/ 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/

Fecha de Publicación: 31 de diciembre de 2020

Duración: 52 min