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May 25, 2007 3:44 pm US/Eastern
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Researchers Work To Find Cure For Rett Syndrome
by Dr. Mallika Marshall
BOSTON (WBZ) ―
It's a disease many of us have never heard of, but Rett Syndrome affects dozens of young girls in our area. Now, families and researchers are trying to find a cure.
Jillian Endres, 4, suffers from a debilitating neurological disorder called Rett Syndrome, which affects an estimated one in 10,000 girls.
"She wasn't meeting the milestones that typical babies do, by five months we definitely knew something was going on with her, she couldn't sit up on her own," said Jennifer Endres, Jillian's mother.
The autism-like disorder causes severe developmental delays.
Jennifer says, "She doesn't walk or talk, she has no use of her hands. She has seizures which are controlled by medication."
"Typically around 2 to 4-years of age, the girls start to lose skills, particularly with their hands, they develop these hands movements… Up to face, which are typical of the condition," said Dr. Omar Khwaja, who heads up a new clinic at Children's Hospital Boston which specializes in treating patients and researching Rett Syndrome.
Dr. Khwaja says, "That's our major research focus to find mediations that could be use to treat the disease itself
Jennifer and the families of other girls are taking their own steps, helping to raise money for the Rett Syndrome Research Foundation to help find a cure for their daughters.
Jennifer says "To see treatments or a cure for Jillian and the other girls with Rett Syndrome, it would mean the world… That is something that every day we think about and pray for."
Jillian's family is organizing their third annual Strollathon on Saturday June 2 at the Laurence MacArthur Elementary School on Route 28 in South Yarmouth.
For more information, contact Jennifer Andres at 508-394-3011 or
capcodstrollathon.com or log onto
www.rsrf.org.
(© MMVII, CBS Broadcasting Inc. All Rights Reserved.)