StemCell Therapy

When I first started at CHEO as a neuromuscular expert in 2010, there were absolutely no treatments available, he said, noting that children diagnosed then with SMA were given the necessary nutritional and respiratory supports, and assisted devices such as wheelchairs, to help them live the best life possible.

But research at CHEO, led by Dr. Alex MacKenzie, who discovered a gene NAIP which may contribute to the severity of the disease, helped develop treatment therapies.

One of them, which Aidan was first given when he was about three weeks old, is known as Spinraza. Approved in Canada, it corrects how the faulty gene produces certain proteins, but requires repeated treatments via spinal taps throughout the persons life.

A second treatment, a gene-replacement therapy called Zolgensma, only needs to be administered once, but is not yet approved in Canada and is prohibitively expensive: more than $2 million in the U.S.

Our immediate families volunteered to remortgage their houses and help fundraise, recalls Adam, while the couple planned to sell their house and move in with family.

Fortunately, they didnt have to. Through the manufacturers managed access program, the drug was made available on a compassionate basis to Aidan, who received it two weeks after his first treatment.

Theres no definitive test to say how well Aidans treatment has worked, but, according to Dr. McMillan, many of the newborns who initially received Zolgensma are now five and six years old, and they continue to show robust strong effects to the gene-replacement therapy, and theyve had no symptoms of clinical deterioration and no signs of any wearing-off effects.

For Sully and Deschamps, the proof so far is in seeing their son approach his first birthday with no signs of the disease. We see him as a physically active child who climbs two sets of stairs with ease and cruises around the house like he owns it. He dances to music, he throws and chases balls, and he chases our cats. We are so thankful.

bdeachman@postmedia.com

More:
Ottawa baby a pioneer of gene therapy for rare disease - Windsor Star

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