ONCE UPON A GENE - EPISODE 063 - 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?
There wasn't much research at the time, so they only knew the arthritis was a symptom, as were the rashes. They were mostly focused on arthritis, inflammation of the eye that can cause blindness and rashes. At the time, we weren't aware of how serious granulomas were and that they could spread to all the vital organs. Lexi's body was full of them.
What ultimately happened to Lexi when she passed?
If she got a cold or virus of any sort, she would have episodes of a form of shock and extreme pain. These episodes ranged from days to months. This happened a lot, but her doctors didn't emphasize on why these episodes happened and what they were. The last day she was home, she went to bed full of energy, but woke up very sick. The day was hard, she struggled to keep anything down. We spent the day at home and that night, we took her to the hospital and we were told she had sepsis. She was airlifted to a new hospital and team. She began to improve and her symptoms were better until the next morning when her liver counts were high and they began discussing a liver transplant. I pulled a team together from all over to bring in ideas for how to proceed. It felt like it had to work. As she was getting ready for a high dose of steroid treatment, they went for a CAT scan and didn't come back. The autopsy confirmed that Lexi died from a macrophage activation syndrome (MAS) episode.
Can you share with us what Felix is doing to raise awareness for Blau Syndrome?
Felix and Lexi were both recently nominated for the Rare Champion of Hope with Global Genes. Felix's whole life has been about his sister and rare disease and knowing the suffering and pain that comes with it. He is so dedicated to making people feel better. He wanted to know everything about Blau Syndrome and to find a way to help other kids with the rare condition.
What is the status of the Blau Syndrome research to date?
We're putting together a rare disease documentary and we've been speaking to families in the community. The steps that need to be taken to cure Blau Syndrome are a lot more clear to me. We have a goal and we're focused on the funding through fundraisers and then proceeding with a disease characterization study.
LINKS AND RESOURCES MENTIONED
The Boy With a Thorn in His Joints
TUNE INTO THE ONCE UPON A GENE PODCAST
CONNECT WITH EFFIE PARKS