By Susan Poizner
Special to The Toronto Sun
Jacob Schwartz is a six-year-old child with bright eyes and a dazzling smile. When you look at him, you can see what a beautiful young man he could grow up to be. But Jacob is not expected to grow up -- because he suffers from a fatal and incurable genetic disease.
Jacob Schwartz suffers from Canavan disease, a rare, neurological, inherited disease that affects movement, speech and functionality. His mother, Ellen, and her husband founded Jacob's Ladder, an organization that promotes genetic screening for the disease.
"When he was born, he was perfectly healthy," says Jacob's mother, Ellen Schwartz. "Then we took him home and he was a very fussy baby. Everyone said he was colic.
I noticed he wasn't looking at me. I asked people and they said nothing was wrong."
At two months, Jacob still wasn't lifting his head or making eye
At four months, he was finally diagnosed with the genetic brain condition Canavan disease, which can be passed on to an unborn child when both of the parents are carriers.
Jacob, like other children who have Canavan, can't sit up. He can't crawl or walk. He can't speak and requires constant attention and care. His parents treasure every day they have with him, but due to his condition, Jacob is unlikely to live past the age of 10.
Ellen and her husband, Jeff, founded the organization Jacob's Ladder to raise money for research into neurodegenerative diseases like Canavan, to make genetic screening accessible to parents, and to increase awareness among health workers.
Members of the Ashkenazi Jewish Community like Ellen and Jeff are more at risk of being carriers of Canavan -- and yet when they were considering having a child, none of the medical personnel they consulted suggested they be tested for this gene.
Cheryl Shuman is the director of Genetic Counselling at Sick Children's Hospital in Toronto, and her centre is open to anyone who wants to be tested for a genetic disorder.
It's not just Canavan that they are looking for. Ashkenazi Jews are also checked for Tay-Sachs and familial dysautonomia.
Our genetic information lies in our DNA.
Those of Mediterranean descent are tested for Thalassemia, and those of African descent can be tested as carriers of sickle cell disease.
Some of these diseases are more common than others. One in 40 Ashkenazi Jews, for instance, will be Canavan carriers, while one in 10 Canadians of African descent will carry sickle cell disease. If both parents are carriers, the couple has a one in four chance of having a child with the condition.
"If people are concerned about their family history, the best time to offer screening is before a couple undertakes a pregnancy, because then they have time to consider what their options are and then they can make their own decisions," Cheryl Shuman says.
But parents need to know if they are at risk of any of the diseases that can affect the health of their unborn child, and here health-care workers can play a crucial role just by asking a few questions about their family history and ethnic background.
Anyone with questions about genetic diseases can call the Division of Clinical and Metabolic Genetics at Sick Children's Hospital at 416-813-6390.
For more information about Canavan, check out www.jacobsladder.ca
"I'm thrilled I have Jacob," Ellen Schwartz says. "He's enriched my life immensely. He's taught me so many life lessons. But he's had 12 surgeries to his brain. He has hours of seizures. There is no cure and we are watching him get worse."
Thanks to her work with Jacob's Ladder, anyone at risk of being a Canavan carrier can now be tested free-of-charge in Ontario. Ellen hopes this service will be extended across Canada soon so that other parents will have the knowledge they need to make their own choices.
(Susan Poizner (firstname.lastname@example.org)
is a Toronto-based freelance writer.)
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