WATCH: There are less than 200 people diagnosed with Blau Syndrome around the world. There is no known treatment. But an Esquimalt man is dedicating himself to find a cure for his daughter’s rare disease. And he’s hoping that a community effort to make a video will contribute to the cause. Mary Griffin reports.
Six-year-old Lexi Townsin is taking a few minutes to pound out a song of her making on the piano. She should be at school, but an outbreak of chickenpox is keeping her, and her brother Felix, home today.
But it’s another disease her father, Troy Townsin, is worried about.
“Lexi, before she was one we noticed she was getting strange inflammation. And she was having a hard time crawling. She wouldn’t put weight on her wrists, or ankles,” Townsin said.
Lexi is one of fewer than 200 patients in the world diagnosed with Blau Syndrome. It’s a painful, life-threatening condition that affects her joints, eyes, and internal organs.
“She gets a small flu, or a cold, that can cause granulomas. That can cause terrible consequences for us. Anything can cause a flare in her. Her immune system reacts unpredictably,” Townsin said.
So Townsin started the non-profit Cure Blau Syndrome Foundation at his kitchen table. Now he’s hoping to make Victoria a focal point for this rare disease. In the one-minute video, Lexi appears with her dad. “Daddy, a lot of people who want to help us cure Blau Syndrome. Isn’t there?” “There sure are Lexi.”
Townsin is pitching a full-length documentary, “Me, My Dad, and Blau”, in the Storyhive documentary competition. He’s focusing on raising awareness of this condition.
“We’re not going to stop until we find a cure.” “We’re not.”
“This is a way to get the word out. This is exactly what we’re looking for. It’s a chance to do a documentary film about Blau Syndrome. And about how we are engaging the community to look for people to build a registry, and find researchers who are willing to work on it,” Townsin said.
If enough people vote for his one-minute pitch, then Townsin will be given $50,000 to make a documentary, and organize the first Blau Syndrome research symposium next year in Victoria.