E.Y. family fundraising for son who has galactosemia

Disease so rare, doctors thought it was mistake

Isaiah Schwartz, 4, with his mother Charlotte Schwartz
Isaiah Schwartz, 4, with his mother Charlotte Schwartz (Deidra Barton/Toronto Observer)

Nine days after their son’s birth, the Schwartz family received a call from the hospital they never thought they would hear.

Isaiah Schwartz, the couple’s first born son, tested positive for a very rare disease — so rare the hospital thought it was a mistake.

After asking Charlotte Schwartz, his mother, a few diagnostic questions doctors agreed to Isaiah coming back for more testing.

“From there they suggested, based on the answers I’ve given them, it was what they called a ‘false positive'” she said.

Two hours after that phone call, Isaiah started to get very ill and the couple rushed their son to the hospital.

“They started to treat him like he did have galactosemia until they were able to confirm a diagnosis,” she said.

Charlotte had never heard of galactosemia, a disease that affects one in 60,000 North American births. This illness means Isaiah can’t break down the sugar galactose, which is found in diary products and produced by the body.

Today, Isaiah is four years old and the family is currently raising money for galactosemia research.

“We just had an event on Friday and we raised about $12,000,” she said. “We have three fundraising initiatives this year all for the same cause.”

On Sept. 12, the Schwartz family had a team participate in a 5K run and all the proceeds went to the funds they established with Sick Kids Hospital.

“The last fundraising event will take place during the Thanksgiving long weekend,” she said. “I’m going to run three marathons in three consecutive days from Toronto to Niagara Falls.”