Presbyterians ran for Rett on May 15, helping to raise money for a disorder many parents and doctors don't even know about. Rett Syndrome is a degenerative neurodevelopmental disorder that first appears in girls between six and 18 months of age. It affects about one in every 10,000 to 15,000 girls, with life expectancy believed to be about 40 years. There is no cure. "This run was a concerted effort to raise awareness," said Rob Congram, whose daughter Abby is afflicted with the disorder. "The money was great but the real goal was to let people know this is out there."
Rett Syndrome is named for the doctor who first discovered it in 1966. Doctors are better equipped to diagnose the condition today, but many are still mistakenly calling it autism. Although research is on-going, a culprit gene for the disorder was discovered in 1999. Found on the X chromosome, the significant gene contains a damaged or missing protein. Since this protein regulates the expression of other genes, there are a wide variety of symptoms and varying degrees of expression. "This gene is like the conductor of an orchestra," explained Congram. "If it's messed up, the orchestra doesn't play very well."
Rett girls generally have normal development until signs of muscle atrophy set in during the early stages of life. As the condition worsens, motor ability digresses, with walking becoming difficult and speech virtually disappearing. Compulsive behaviours such as hand wringing and washing become evident, as do gait abnormalities and trouble focusing the eyes. Head and brain growth also slowdown.
Abby, 6, is able to walk, but has lost her ability to talk and use her hands. "One of the biggest challenges is bridging the communication gap and helping her when she hurts," said Congram. "But worse than that is not knowing how the disorder will play out, and the fear of what the future holds for your child."
The Record's former editor, Rev. John Congram, attended the fundraiser in support of his granddaughter. Several staff from church offices also made the trek to Milton, Ont., where the walk/run was held. Margaret Henderson, Bob Anger, Pat Martin, Susan Clark and Elza Furzer donned their Run4Rett t-shirts and made the one-, five- or 10-kilometre trek through the city. It was the first time such an event was held in Canada. The mayor of Milton cut the ribbon at the race's start, and a doctor from Sick Kids' Hospital researching the disorder received a cheque for $53,000.
