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In many ways, Abby Congram is a typical 17-year-old. She likes socializing with her friends, and she's interested in boys and music (Great Big Sea and Meghan Trainor are her favourite artists). Abby also loves horses – there are pictures of horses all over her room, and she rides them near her home in Stratford, Ont.
But unlike most of her peers, Abby is unable to speak. She can't use her hands to type or hold a pencil or eat. She needs 24-7 assistance for all the activities of daily living. Abby has Rett syndrome, a rare neurological and developmental disorder that affects girls almost exclusively.
One in 10,000 females around the world is born with Rett syndrome, a genetic disorder whose cause wasn't even known until 1999. Because it's neurologically based, symptoms vary greatly, but they can include seizures, the inability to speak, irregular breathing, poor thermoregulation (maintaining proper body temperature), an irregular heart rate, problems walking and the loss of purposeful hand use.
Abby suffers from painful gastrointestinal problems and muscle weakness, which are also symptoms typical of Rett syndrome.
"Abby's muscle tone will suddenly go low one day and she can't walk, when yesterday she could," says Karen Congram, Abby's mother. "She has a lot of difficulty with what's called the autonomic nervous system, which controls her digestive system and her heart rate and her bladder, and so when the nervous system decides it's not working today, that creates a lot of pain."
The Krembil Research Institute and the Globe and Mail have teamed up for a special content project designed to highlight the tremendous accomplishments of our scientists and research programs at Krembil. The first of three of magazine in this series focuses on the success stories within the brain and spine program and is now available online.