Family struggles with rare disease
Parents sometimes find it hard to determine just how serious the problem is when their youngsters complaint of aches and pains.
Angie Gosselin and her ex-husband Dave Meredith were not overly concerned when their son Trey, now 10, started developing excema rashes. They didn’t think it was a problem because they both suffer from the same skin condition.
Gosselin and Meredith, who take turns parenting Trey, became more concerned when he started complaining of chest pains.
Red Deer doctors ruled out heartburn, but couldn’t come up with a diagnosis.
The tipping point came earlier this year, when Trey told his mother that he couldn’t straighten out his fingers.
She then noticed that his gait had changed. He wasn’t walking heel to toe, but seemed to be walking on his tip toes.
Flummoxed by Trey’s symptoms and thinking he may have a form of lupus, their family doctor referred him to a local specialist who then sent them to a pediatrician at the Alberta Children’s Hospital in Calgary.
That was on a Friday, says Gosselin.
By Monday, when he was supposed to see the doctor in Calgary, Trey couldn’t move. Meredith had to carry him in to see the doctor in Calgary.
An MRI confirmed that Trey had been struck by a disease so rare, most doctors will never see it.
Dermatomyositis attacks connective tissues and muscles, creating the overall soreness and the contracture that had made Trey unable to straighten his hands and feet.
Gosselin later learned that the disease affects only three in a million people, mostly children and mostly girls, starting at about age seven, says Gosselin.
It can be treated, but there is no cure.
Trey was started on Prednisone and intravenous injections of immunoglobulin.
Three days later, he was kicking a soccer ball.
The intravenous injections are needed less frequently now, and Trey may be able to come off steroids after two years, said Gosselin.
But he’s still not the same little boy he was before he got sick.
His immune system has been weakened and the steroids will slow down his growth for now, meaning he’ll have an extra growth spurt later one, she said.
He still doesn’t have the energy to go biking with her and complaints of soreness afterward.
Encouraged to keep exercising, he goes swimming so he can work his muscles in an environment that protects him from heavy impacts.
Most frustrating for Gosselin has been that, with so few people affected by the disease, there is no local support base — no one she could turn to for advice or information.
A hair stylist and part-owner of her own salon, Gosselin had made a point of asking her clients if they knew of anyone who had seem symptoms similar to what Trey was suffering. There were no answers.
She is concerned that, with such a rare disease, it may be misdiagnosed and, consequently, not treated correctly before the damage becomes permanent. She also hopes to learn more from other parents of children who have been diagnosed with dermatomyositis.
To help raise awareness of the disease, Gosselin is encouraging people to learn more about The Myositis Association, an international research and support foundation which celebrates its 20th anniversary on Sept. 21.
Please visit www.myositis.org to learn more.