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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.
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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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    Focus on traumatized boys critical to gender equality, new research shows

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    TORONTO — Boys in poor urban areas around the world are suffering even more than girls from violence, abuse and neglect, groundbreaking international research published on Monday suggests.
    The study in the Journal of Adolescent Health, along with …


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  • TORONTO — Boys in poor urban areas around the world are suffering even more than girls from violence, abuse and neglect, groundbreaking international research published on Monday suggests.

    The study in the Journal of Adolescent Health, along with similar new research, suggests an adequate focus on helping boys is critical to achieving gender equality in the longer term.

    “This is the first global study to investigate how a cluster of traumatic childhood experiences known as ACEs, or adverse childhood experiences, work together to cause specific health issues in early adolescence, with terrible life-long consequences,” Dr. Robert Blum, the lead researcher for the global early adolescent study, said in a statement. “While we found young girls often suffer significantly, contrary to common belief, boys reported even greater exposure to violence and neglect, which makes them more likely to be violent in return.”

    The study from Johns Hopkins Bloomberg School of Public Health looked at childhood traumas suffered by 1,284 adolescents aged 10 to 14 in more than a dozen low-income urban settings around the world such as the United States, China, the U.K., Egypt and Bolivia.

    Overall, 46 per cent of young adolescents reported experiencing violence, 38 per cent said they suffered emotional neglect and 29 per cent experienced physical neglect. Boys, however, were more likely to report being victims of physical neglect, sexual abuse and violence.

    While higher levels of trauma lead both boys and girls to engage in more violent behaviours, boys are more likely to become violent. Girls tend to show higher levels of depression.

    Separately, a new report to be released next month at an international conference in Vancouver concludes that focusing on boys is critical to achieving gender parity. The report from the Bellagio Working Group on Gender Equality — a global coalition of adolescent health experts — finds boys and men are frequently overlooked in the equality equation.

    “We cannot achieve a gender-equitable world by ignoring half of its occupants,” the report states. “It is crucial that boys and men be included in efforts to promote gender equality and empowerment.”

    For the past six years, a consortium of 15 countries led by the Bloomberg School of Public Health and World Health Organization has been working on the global early adolescent study. The aim is to understand how gender norms are formed in early adolescence and how they predispose young people to sexual and other health risks.

    Evidence gathered by the study indicates boys experience as much disadvantage as girls but are more likely to smoke, drink and suffer injury and death in the second decade of life than their female counterparts.

    The key to achieving gender equality over the next decade or so — as the United Nations aims to do — involves addressing conditions and stereotypes that are harmful to both girls and boys, the researchers say. They also say it’s crucial to intervene as early as age 10. The norm is now age 15.

    “Gender norms, attitudes and beliefs appear to solidify by age 15 or 16,” the working group says. “We must actively engage girls and boys at the onset of adolescence to increase total social inclusion and produce generational change.”

    Leena Augimeri, a child mental-health expert with the Child Development Institute in Toronto, agreed with the need to focus on boys as well as girls. At the same time, she said, the genders do require different approaches.

    “Boys are equally at risk,” said Augimeri, who was not involved in the studies. “When we look at the various issues that impact our children, we have to look at it from different perspectives and lenses and you can’t think there’s a one fit for all.”

     

    Colin Perkel, The Canadian Press


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    ‘Dignity and wisdom’: Chief justice praises Gascon after final high-court case

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    OTTAWA — Supreme Court Justice Clement Gascon received a standing ovation Thursday after hearing his final case on the high court.
    Gascon graciously thanked his family and colleagues, saying it is an immense privilege to be a judge.
    Last month, Gascon,…


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  • OTTAWA — Supreme Court Justice Clement Gascon received a standing ovation Thursday after hearing his final case on the high court.

    Gascon graciously thanked his family and colleagues, saying it is an immense privilege to be a judge.

    Last month, Gascon, 58, announced plans to retire for unspecified personal and family reasons.

    He said this week he has long struggled with anxiety and depression, and while he has generally been able to manage the illness, it recently led to a difficult episode.

    Gascon said he suffered a panic attack before he briefly went missing May 8. He profusely apologized for the uncharacteristic absence, citing the effects of his difficult career decision and a change in medication.

    In the crowded courtroom Thursday, Chief Justice Richard Wagner praised Gascon as an exceptional person.

    “Our esteemed colleague has served Canadians with dignity and wisdom,” Wagner said. “His commitment and friendship will be missed.”

    Justice Sheilah Martin shed tears.

    Gascon officially steps down Sept. 15 but will continue to have input into judgments flowing from cases he has heard, as long as they are released within six months of his retirement date.

    Judgments released after mid-March will note that Gascon had no input into the decision.

    “My work as a judge is far from complete,” he said. “I can assure you that I will continue.”

    The Canadian Press


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