Nine days after having their second child, parents Charlotte and Seth Schwartz received a phone call from the Ontario Newborn Screening Program that would change their lives forever. They were told that the results for their newborn son, Isaiah, came back with a positive screen. The very same day, Isaiah began to show symptoms and was later diagnosed with having a rare disorder, galactosemia.
Galactosemia is an inherited disease that affects the body’s ability to metabolize the sugar galactose, which is found in dairy products. As a result of this, Isaiah was immediately switched to a soy-based diet.
“There’s no way to treat it other than acutely, like life or death. You have to follow the diet because if they ingest the toxic sugars they can die of liver failure, brain damage or a combination of the two,” Charlotte explained. “Even if you follow the diet to the letter of the law it doesn’t mean that your kid is going to speak on time and walk on time. It doesn’t mean that they’ll ever be an average member of society.”
There is no cure for galactosemia and very little information is available on the disease, which led the family to raise $15,000 last year. This was enough to establish a Galactosemia Research Fund at SickKids Hospital.
Roughly $12,500 was raised on Sept. 25, at the first annual Soy Boy Soirée. 200 guests enjoyed a fun-filled night including a comedy show, an auction and a brief talk by Dr. Andreas Schulze, director of the Newborn Screening Program and leader of the Galactosemia Research Fund. Dr. Schulze explained the importance of the research fund and what it is working towards.
“Research in galactosemia worldwide works in a very slow pace, there’s almost nobody doing research on it and the way we treat it hasn’t changed over the last 20 or 30 years,” Dr. Schulze explained.
The Schwartz family has set a goal to raise $50,000 before the end of the year. To donate towards the Galactosemia Research Fund visit www.sickkidsfoundation.com/page/runningforsoyboy.