What would you do if your child was diagnosed with a rare disease with no cure and no effective treatment?
Welcome to the reality of Victoria parents Troy and Cheryl-Lynn Townsin and their 6-year-old daughter, Lexi.
Lexi is one of fewer than 200 recorded patients in the world who have Blau syndrome (also known as early-onset sarcoidosis) – a painful, life-threatening condition that combines arthritis, sarcoidosis, and uveitis.
In short Lexi lives in constant pain.
Her height is stunted, her bones are in the early stages of osteoporosis, every joint and tendon in her body is inflamed and sore, her eyes are being attacked by uveitis which could eventually cause her to lose her vision, and her immune system is weakened and reacts to viruses in unpredictable ways.
Blau syndrome is also a progressive disease, meaning that more health challenges may be in store for this local 6-year-old.
“Despite all of this, Lexi is one of the most delightful, charismatic, funniest kids you will ever meet,” Troy told Victoria Buzz via email.
That’s why the Townsins have pitched a documentary, ‘Me, my Dad and Blau’, to help raise awareness on the disease, which could help spur on research efforts.
The documentary pitch has been submitted to Storyhive, an online competition that involves viewers voting for their favourite documentary, with the 15 most popular receiving a $50,000 production grant.
‘Me, my Dad and Blau’ will follow Lexi’s journey and detail how the community of Victoria has come together to raise awareness for the condition as the family searches for a cure.
“The first steps to finding a cure are raising awareness of the disease itself and then locating more patients,” said Troy.
Since beginning their campaign for the documentary, the family has already found one patient of Blau syndrome on Vancouver Island who was misdiagnosed nearly 4 decades ago.
If enough patients are found, Blau syndrome can be added to the Canadian Organization for Rare Disorders, which would attract more researchers to study the disease.
“We are starting a global search for patients, but it all begins right here in our amazing community of Victoria.” says Troy. “This film will be made in Victoria, the funds we get to make it will be spent here and it will be all about the diverse community of Victoria coming together. “
“No one actually knows how many Blau patients are out there because no-one is counting them” says Troy “and when it comes to rare diseases, in Canada and around the world, I’ve learnt that if you are not being counted – it’s as if you don’t count”
You can vote for the documentary online here. Voting for the competition runs between May 28th – 31st, and each viewer can vote for a documentary once per day.