Dad tries to shed light on girl’s rare disease by making documentary

A six-year-old Esquimalt girl is one of about 200 people in the world with an extremely rare degenerative disease called Blau syndrome. Her father is on a mission to raise awareness of the disorder in hopes more research will be done on the disease.

Lexi was initially diagnosed with juvenile arthritis around her first birthday, after her parents noticed swelling around her wrists and ankles. The toddler also developed strange rashes on her body, which led to a skin biopsy at B.C. Children’s Hospital in Vancouver, said her dad, Troy Townsin.

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One doctor recognized her symptoms as Blau syndrome and Lexi was diagnosed just before her third birthday, Townsin said.

The autoimmune disease causes painful skin inflammation called granulomatous dermatitis and sarcoidosis, which inflames the organs. There is no medication for Blau syndrome, and the only treatment that has worked for Lexi is steroids, which has caused early-stage osteoporosis.

Townsin, a children’s book author, has entered an online contest through Telus’s Storyhive, which offers filmmakers production grants and distribution opportunities, to produce a documentary about Lexi and her disease. The documentary, called Me, my Dad and Blau, has been selected as one of the contest’s finalists.

The contest awards 30 people with $50,000 each to produce a documentary about “people, places, history and culture” in B.C. and Alberta. Half the winners are selected by popular vote and half are selected by a jury.

“We’ve come up with a plan on how to attack this,” Townsin said. “The first step is to raise awareness around the disease, because no one has ever heard of it.”

The dearth of information and medical research led Townsin to start a non-profit foundation from his kitchen table. He wants to create a database of people with the disease and hopes raising awareness of the symptoms leads to more people being properly diagnosed.

“We want to find new patients, because a lot of people are probably undiagnosed or misdiagnosed,” he said.

Last summer, the family flew to Denver, Colorado, to meet Hayden Lee, another six-year-old with Blau syndrome. Hayden died in November as a result of an aneurysm caused by a build-up of granulomas, Townsin said.

When Lexi was a toddler, the family kept her protected from the outside world to shield her from germs, because a mild cold can cause major inflammation in her body.

“For the longest time, we really sheltered her and didn’t want her to interact with people. And then we thought, that’s not the way this is going to work. She needs a community and people helping her.”

Lexi attends kindergarten at John Stubbs Elementary School. She loves animals and wants to be a ballerina or a veterinarian, or a combination of the two.

She looks up to her nine-year-old brother, Felix, and adores therapy dog Max.

“On a good day, she’s exactly like a normal kid,” Townsin said. “There’s other days where if she didn’t have the steroids, she wouldn’t be walking, she wouldn’t be moving around. She’s known pain since she was tiny, so she deals with pain really well.”

Townsin has also created a Facebook page called Me, my Dad and Blau where he post updates about new research and Lexi posts videos about letters to Santa and a loving message to her mom, Cheryl-Lynne, on Mother’s Day.

Townsin said the ability to share her story has empowered Lexi and given the family a sense of control over the disease.

“It gives her a voice.”

The deadline to vote for Lexi’s documentary is Friday at noon. To vote, visit storyhive.com

kderosa@timescolonist.com

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