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B.C. man believed to be first Canadian to get intravenous gene therapy

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CALGARY — A big sushi meal would have once made Josh McQuillin gravely ill, but the British Columbia man can now gorge on one of his favourite foods worry-free thanks to a breakthrough clinical trial for his rare genetic disorder.

McQuillin was 12 when he was diagnosed with urea cycle disorder, a life-threatening condition that causes ammonia to build up in the body and can put a person in a coma.

He had to strictly limit how much protein he ate and took expensive medication several times a day. He could never be too far from a hospital, which made it hard to travel abroad or join friends backcountry camping.

“Now I can eat as much protein as I want. I’m eating differently, sleeping differently, exercising differently,” McQuillin, 30, said during a monitoring appointment at Calgary’s Foothills Medical Centre on Thursday.

“I’ve gained a bit of weight. I’ve never had to fight weight gain before, which is kind of funny. I’ve always been underweight my whole entire life.”

The genes needed to process ammonia were delivered to McQuillin’s liver intravenously. A virus, modified to be harmless, was used as a transmitter. It’s believed McQuillin is the first Canadian to receive gene replacement this way. Only three other people in the world have undergone similar treatment.

McQuillin, who lives in Prince George, B.C., said he felt the results two weeks after the one-time injection.

Aneal Khan with the University of Calgary’s Cumming School of Medicine is leading the trial. He also treated McQuillin in Ontario when he first got sick as a boy.

Khan recalled telling McQuillin’s parents years ago that he wasn’t sure their son would survive.

“Since he’s had this therapy, his ammonia has not gone high, despite him eating whatever amount of protein he wants. It’s a massive change,” said Khan. “We’re very excited — especially for rare genetic diseases, DNA diseases —  that we don’t have to tell the parents that stuff anymore.”

Khan said the treatment is being studied for other genetic diseases involving the liver such as hemophilia.

Alberta Health Services has set aside beds in Foothills hospital’s intensive care unit for clinical trial patients. That’s important, because it’s often not known whether an experimental treatment will have serious adverse effects, said Christopher Doig, a medical director in intensive care for the agency’s Calgary zone

“They can get it in a very safe way where they can be very closely watched, very closely monitored. At the same time, we’re not using resources taking away from other patients.”

McQuillin said he’s looking forward to going on a road trip in the United Kingdom this spring without having to worry about his medication or whether the nearest hospital can treat his condition. He can also rest easier when on his forestry job, which once required painstaking meal planning for trips into the bush.   

“Everything’s 100 per cent good to go for now,” he said.

“I guess my only concern or fear is they don’t know really how long it will last. But it’s definitely exciting.”

Lauren Krugel, The Canadian Press

Note to readers: This is a corrected story. An earlier version had Josh McQuillin’s last name spelled incorrectly.

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So many losses to cope with

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So many losses to cope with

Shaylyn is only 26. She experienced miscarriages and lost multiple friends, relatives, and pets starting in 2012.  The losses continued and just kept on building with 8 souls lost in 2019 alone. She was working through it her way but in the back of her mind she knew some help may allow her to move towards a better quality of life.  She put her thoughts out there asking the universe for some assistance when she saw a bus ad “Got Grief?” and the phone number to register for the RDPCN Grief program.  She immediately called to register for the program and is very glad that she did.

One of the valuable lessons that she learned was not to feel any anger or resentment to the person who passed. She could be mad at the situation they left her in but not mad at the person. She found comfort in the class exercise of writing a letter to the person lost and then writing a response from them. It felt like she was receiving comfort and support, and this helped her shift to the positive. She also realized she is a caregiver, but she needs to take some time and care for herself and give herself some time to work through all of this. She gained knowledge on how to do this.

Overall the Journeying through Grief program helped her to get on a more positive path. She realized how resilient she is and how she can move forward with her life. She gained self-confidence and can now walk away from non-constructive conversations. She learned it is okay to ask for help and okay to be vulnerable. The program gave her space to express what she was feeling and give in to her emotions. Often people don’t know how to be around you during your time of loss but having experience communicating with others in similar situations in the program gave me the practice and confidence that I needed to move forward. Shaylyn says, “I would highly recommend Journeying through Grief to anyone with loss in their life.

Self-care series: Lift your mood

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Dealing with Distress 

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Dealing with Distress

Learn some ways to deal with distress in this video with Renee, one of our Mental Health Counselors. For more ideas watch this video in the link below. Commit to trying one new strategy to manage when you find yourself dealing with a situation you have no control over.

In her video, Renee references this video.

Click to learn more about the Red Deer Primary Care Network.

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july, 2020

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