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 wasnât right when he wasnât reaching the weight and development milestones the way that theyâd 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 arenât sure exactly how to deal with it. MacKinnon said sheâs 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.
âThere really is no treatment at this point,â MacKinnon said. âItâs just therapy and getting him to reach his highest potential.â
She isnât 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 theyâre 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 isnât able to speak at the level expected for kids his age.
MacKinnon knows her son is bright. But sheâs aware heâll need help with many things such as motor planning.
âHe learns with lots and lots of repetition,â she said.
Isaac can sit up on his own now, he can roll around, but he isnât 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. Sheâs 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.
âHeâs a great little kid,â she said. âItâs really nice to see that there are kids that are so ambitious and so thoughtful and wanting to help Isaac.â
She hopes that when Isaac goes to school that there will be kids like Tyler who will help make his transition easier. Itâs kids like him that give her hope for her son.
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