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Josh McQuillin would have been seriously ill if a big sushi meal had already been, but the man from British Columbia can now gorge on one of his favorite foods without worry thanks to a test revolutionary clinic for its rare genetic disorder.
McQuillin was 12 years old when he was diagnosed with a urea cycle disorder, a life-threatening illness that causes an accumulation of ammonia in the body and can plunge a person into a coma.
He had to strictly limit the amount of protein that he ate and took expensive drugs several times a day. It could never be too far from a hospital, making it difficult to travel abroad or join friends camping in the backcountry.
"Now I can eat as much protein as I want. I eat differently, I sleep differently, I exercise differently, "McQuillin, 30, told a monitoring meeting at Foothills Medical Center in Calgary on Thursday.
"I took a little weight. I have never had to struggle with weight gain before, which is pretty funny. I've always been underweight all my life. "
Genes required for the treatment of ammonia were administered to the McQuillin liver intravenously. A virus, modified to be harmless, was used as a transmitter. It is believed that McQuillin is the first Canadian to receive a gene replacement this way. Only three other people in the world have undergone similar treatment.
McQuillin, who lives in Prince George, BC, said he felt the results two weeks after the single injection.
Aneal Khan from the University of Calgary's Cumming School of Medicine conducts the test. He also treated McQuillin in Ontario when he became ill as a boy.
Khan remembered telling McQuillin's parents several years ago that he was not sure that their son would survive.
"Since he had this therapy, his ammonia level has not increased, despite the fact that he is eating the amount of protein he wants. It's a mbadive change, "Khan said. "We are very excited – especially for rare genetic diseases, the diseases of DNA – to no longer have to say that to parents."
Khan said the treatment is under study for other genetic diseases involving the liver, such as hemophilia.
Alberta Health Services has reserved beds in the Foothills Hospital Intensive Care Unit for patients in clinical trials. This is important because it is often unclear whether an experimental treatment will have serious side effects, said Christopher Doig, medical director of intensive care for the Calgary area of the agency.
"They can get it very safely and can be watched very closely, monitored very closely. At the same time, we do not use resources that harm other patients. "
McQuillin said he was looking forward to going on a road trip to the UK this spring without having to worry about his medication or whether the nearest hospital could handle his problem. He can also rest more easily in his work as a forester, which once required careful planning of meals for trips into the bush.
"Everything is 100% good," he said.
"I guess my only concern or fear is that they do not really know how long it will last. But it's really exciting.
Lauren Krugel, Canadian Press
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