A ground-breaking procedure to treat a rare, and often fatal disease has been completed at the Ottawa Hospital—and a Newfoundland doctor is part of the team that made it happen.
Dr. Karen Fung-Kee-Fung, a MUN Med School graduate, explains that Pompe disease is an inherited disease that attacks the heart and muscles. If untreated, she says most children with it will die within the first year of life.
When Fung-Kee-Fung and her team did a pre-natal scan of a fetus and discovered it had Pompe, the timing couldn’t have been better.
She says they discovered a research trial at the University of California looking at an enzyme replacement therapy that would treat the disease.
Photo via Ottawa Hospital
When COVID restrictions prevented the family from travelling to the US to be part of the trial, Fung-Kee-Fung and her team looked at doing the treatment themselves. With the help of their American colleagues, they were successful.
She says the baby, named Isla, is now 17 months old and is doing great with no muscular or respiratory issues—though she will have to continue to receive regular enzyme replacement therapy through an IV.
Photo via Ottawa Hospital
