Family hopes to find more about son's rare condition in Iowa study

Adam MacInnis
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Isaac Fraser is a happy boy. He smiles big and by all appearances loves life. 

Isaac Fraser, son of Arron Fraser and Sarah MacKinnon, has a rare form of muscular dystrophy. His family hopes to be able to take him to Iowa to take part in a clinical study later this year. SUBMITTED

But the 18-month-old has a rare disease that has already brought challenges his way. When he was just 10 months old, he was diagnosed with congenital muscular dystrophy. Doctors first suspected something wasn’t right when he wasn’t reaching the weight and development milestones the way that they’d expect, so he was sent for tests in Halifax, said his mother, Sarah MacKinnon. One of the levels was way off and they suspected it had something to do with his muscles. They did a biopsy and discovered that the proteins were breaking down.

The type of muscular dystrophy Isaac has is very rare, MacKinnon said. In fact the doctors at the IWK aren’t sure exactly how to deal with it. MacKinnon said she’s not aware of any other child in Canada who has it and has only found a couple of cases in the U.S. and one in Germany who are in a similar situation. Even in those cases, though, the disease can affect the child somewhat differently.

“There really is no treatment at this point,” MacKinnon said. “It’s just therapy and getting him to reach his highest potential.”

She isn’t sure if he will ever walk or, if he does, for how long, so a wheelchair is all but inevitable. One of the things he struggles with already is swallowing.

She has been in touch with some medical professionals at the University of Iowa who are doing a clinical trial and are interested in having Isaac take part. The goal is to find out the causes and possible treatment for the disease. MacKinnon is hoping they may be able to go sometime this summer.

While they wait they are doing the best they can. One area the family is already working to see what can be done to help Isaac is they’re going to be starting him with a speech pathologist, since that is one of the areas where children with muscular dystrophy tend to struggle. Isaac has a few words he can say, but isn’t able to speak at the level expected for kids his age.

MacKinnon knows her son is bright. But she’s aware he’ll need help with many things such as motor planning.

“He learns with lots and lots of repetition,” she said.

Isaac can sit up on his own now, he can roll around, but he isn’t strong enough to crawl. They are waiting for a device this week to come that might help him get around a bit.

Through all the struggles of the past 10 months, MacKinnon is thankful for the support her family has received from the community. She’s been particularly touched by the efforts of young Tyler MacLean at Scotsburn Elementary who has taken up the challenge of raising enough tabs to get Isaac a wheelchair.

“He’s a great little kid,” she said. “It’s really nice to see that there are kids that are so ambitious and so thoughtful and wanting to help Isaac.”

She hopes that when Isaac goes to school that there will be kids like Tyler who will help make his transition easier. It’s kids like him that give her hope for her son.

 

amacinnis@ngnews.ca

On Twitter: NGNewsAdam

Organizations: University of Iowa

Geographic location: Iowa, Halifax, Canada U.S. Germany

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