A large sushi meal was once made G & W McQuillin seriously ill, but a British Columbia man can now follow up on one of his favorite foods without any worries thanks to a breakthrough clinical experiment on his rare genetic disorder.
McQuillin was 12 when he was diagnosed with urea disease disorder, a life-threatening condition that causes ammonia to build in the body and can put a person in a coma.
He had to limit the amount of protein he ate and took expensive drugs several times a day. He could never be too far away from a hospital, making it difficult to travel abroad or join the apprentices.
"Now I can eat as much protein as I want, I eat differently, sleep differently, practice differently," said McLean, 30, during a monitoring session at Calgary's Palesville Medical Center on Thursday.
"I got some weight, I never had to fight weight before, and it's pretty funny, I've always been under weight all my life."
The genes required for ammonia processing were delivered in the liver of the Mac and through the vein. The virus, which changed without harm, was used as a transmitter. McQuillin is believed to be the first Canadian to accept gene replacements in this way. Only three other people in the world have undergone similar treatment.
McQillin, who lives in Prince George, said that he felt the results two weeks after the one-time injection.
Anil Khan with the University of Calgary Medical School, Cumming, leads the trial. He also treated McLean in Ontario when he first became a child.
Khan remembers telling Mac's parents years ago that he is not sure their son will survive.
"Since he did this treatment, his ammonia was not high, even though he ate the amount of protein he wanted, which is a huge change," Khan said. "We are very excited – especially for rare genetic diseases, DNA diseases – that we do not need to tell these parents any more."
According to Khan, the treatment has been studied for other genetic diseases related to the liver such as hemophilia.
Alberta Health Services has set aside beds in the intensive care unit of Foothills Hospital for clinical trial patients. This is important because it is often not known whether the experimental treatment will have serious side effects, said Christopher Duijg, medical director of intensive care in the Calgary area of the agency
"They can take it very safely, which can be viewed closely, closely monitored, but we do not use resources that are diverted from other patients."
McQuillin said he expects to take a road trip to the UK this spring without worrying about his medication or if the nearest hospital can take care of his condition. He can also rest when he is on his afforestation work, which once required careful meal planning for walks into bush.
"Everything's a hundred percent good," he said.
"I guess my only concern is that they do not know how long it will last, but it's definitely exciting."
Lauren Krugel, Canadian Press
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