Families of children with rare disorders hope for further research
A small proportion of Canadians are affected by rare disorders, including only about 2,000 Albertans, but there is a hope that through awareness and research, cures can be found.
Thursday is International Rare Disease Day and to mark the occasion, the Rare Disease Network of Alberta held an info session at Calgary’s Central Library.
At the conference, experts were able to share the latest research on many of the rarest disorders in Canada.
The Aikman-Holland family in Calgary says they’ve been keeping a close eye on all the work that’s being done into the disorder KIF 1A, the rare condition that their four-year-old son Austin has.
“When we were first diagnosed in November 2016, he was one of 28 people in the world,” says mom Ashleigh.
He’s now one of 200 people with the disorder after new diagnostic techniques led to more cases being discovered. More cases also means more interest in the medical world to help progress research.
Austin is unable to see, walk or talk and the disorder also leaves him prone to epileptic seizures.
“There’s a sliding scale. There’s more severe children, like Austin, who can’t do anything. There are a little bit more functioning children who go to school, who can walk with aids and have somewhat of a vocabulary.”
Ashleigh says taking care of Austin is a full-time job.
“He cannot bathe himself, he cannot feed himself, he can’t walk, he can’t talk, so it’s constantly a guessing game of what he needs or wants and we do our best to try and figure it out.”
The family has also changed around their schedule too to make sure that Austin gets the support he needs.
“We had to go down to a single income because I couldn’t work. Child care for him was a lot. We have lots of doctor’s appointments, lots of hospital visits, lots of emergency visits. We’re always learning about his condition.”
Ashleigh adds that it was also difficult to overcome her feelings when she learned that Austin would be born with a neurological disorder.
“You have all these expectations when you’re pregnant and it sort of changes when you have a child like Austin with a neurological condition or a rare disease,” she says. “We just listen to the options and go with that.”
She says there is some hope because money is being raised through a Facebook group for families who have children with KIF 1A.
“We do have a geneticist out of Columbia University in New York. She has a patient with KIF 1A and she has offered to take on the researching and lead a team.”
Now that the work is underway, all the funds they raise can go towards advancing the research.
“They are doing a KIF 1A conference in August in New York at Columbia University and we are hoping to get our finances in order and be able to attend. They are going to take blood from every child that attends and they are going to be doing testing.”
Given the rarity of Austin’s illness, Ashleigh says she doesn’t know how much time they will have as a family, but she cherishes every moment she can get.
“We have never been given a prognosis; our doctors don’t want to put that over us. You just treasure every day you can.”
According to the Canadian Organization for Rare Disorders, about 80 percent of conditions are caused by genetic changes and 25 percent of children with a rare disease don’t survive past their 10th birthday.
(With files from Brad MacLeod)