Calgary boy believed to have world's only documented case of extremely rare genetic disorder
CALGARY -- A Calgary family is looking to the public for support to help their infant son cope with a rare genetic condition that doctors have never seen before and have few ideas how to properly treat.
Brandon Fraser, the son of Kurt Fraser and Dara Christensen, is just 13 months old and struggles with a condition that will remain with him for the rest of his life.
At just seven months, Brandon was diagnosed with epilepsy caused by a gene mutation that is so rare; the boy is believed to be the only person in the world with it.
"We initially came in in August because he was having seizures and was diagnosed with epilepsy," said Kurt Fraser in an interview with CTV News this week. "We had to learn a few things, then we went home with him and bought some monitoring equipment for him."
On Dec. 20, Brandon began having more seizures so was admitted to the ICU. While he was in hospital, doctors conducted genetic testing that was expedited to Finland to be analyzed.
A little over a week ago, Kurt says doctors told him how unique his son's condition was.
"(They) explained that his genetic mutation is the only one that they have ever documented."
Dr. Billie Au, a clinical geneticist at the Alberta Children's Hospital, says the technology that helped fully diagnose Brandon is cutting-edge.
"I had ordered a large epilepsy gene panel for him which is good when you need a fast diagnosis because you can look at many genes all at once," she says. "That gave us a result in a couple months' time of a potential answer for him, but we didn't get the confirmation until we tested the parents."
While there are others in the world who have had mutations of the same gene, Brandon's actual mutation is unique to him, Au says.
Unfortunately, that fact also makes treatment a challenge for physicians.
"The fact that his mutation has not been seen means it's hard for us to predict what he's going to be like in the future because we can't really compare to people with the same mutation," Au says.
While it's shocking to learn more about his son's condition, Kurt's glad to know doctors have identified the issue.
"It explains a lot of the health problems that he's having right now. It's good to have an answer – we just didn't expect it to be that answer, I guess," he says.
On top of the effects of his epilepsy, Brandon also suffers from migraines focused on one half of his brain that lead to partial paralysis, the effects of which can last weeks or months.
"Typically when he gets these migraines, they cause him to start seizing. It goes hand-in-hand and causes a lot of set backs."
Those set backs are usually counter-acted with powerful drugs and force doctors to put the little boy on a ventilator, he says.
Au says Brandon will also need ongoing supports throughout his life; a reality that she knows has hit his family hard.
"The social supports aren't really accessible and you can't have your friends and family to rally around you in person. I think for families, in this situation during the COVID-19 pandemic, it's been particularly difficult because visitors are limited and you can't have people coming to your house to help out."
Of course, the litany of tests and procedures is putting a strain on the family's budget, so that is why a GoFundMe campaign was organized to help them with expenses.
A tentative goal of $100,000 has been set for Brandon, and more than $16,000 has been raised as of Saturday afternoon.
"This'll be for the rest of his life," Kurt says. "He'll be dealing with the issues that come along with it. They don't know what kind of issues will come up in the future just because they don't have anything to work off of, essentially."
To help support Brandon Fraser and his family, you can go online.
(With files from Chris Epp)