"Still, the Conrods know people with Williams syndrome typically require multiple therapies, such as speech and physical, since they often have delayed verbal skills and joint stiffness as they grow. They also can require surgery, sometimes multiple procedures. The Conrods said George will need open heart surgery to fix the narrowing of his aortic valve.
Dr. Barbara Pober, who has been treating George since he was a newborn, is a geneticist based at Massachusetts General Hospital. For the past 20 years, she has been treating hundreds of people with the syndrome, which is caused by random genetic mutation. She also has conducted research, looking into genetic influence on social and cognitive skills.
In effect, anyone is at risk for the disorder, no matter what gender, ethnicity or hereditary influences. The odds go up, to 50/50, for someone whose parent has the disorder.
Prior to the early 1990s, when a blood test became available to test for elastin, a diagnosis was determined by looking for physical and developmental characteristics, Pober said.
She said some of the latest research is focused on studying the missing genes to determine function, as well as therapies or other treatments that could compensate for the omission.
'Every parent dreams the developmental delays can be lessened, but that is a tough nut to crack,' she said. 'But that doesn't mean you can't ask the question or design research. Are there therapies ... that can ameliorate or minimize some of the complications.'
Those kinds of questions are what drew Westport resident Marshall Kiev to the board of the Williams Syndrome Association. As the father of a young daughter with the disorder, who has had multiple heart operations, he is working to raise funds for research work.
'I remember asking, 'Can anything be done?' ' he said of a conversation he had with several friends who were doctors.
The answer? More money was needed for research.
His first project focused on cardiovascular issues, particularly the narrowing of arteries, which affects about 75 percent of those with the disorder, some more severely than others.
'We know what causes it, but we don't know how to fix it,' he said.
That effort led to a symposium last year at Yale University and the $320,000 grant.
'We've seen the mountains, now we have to figure out how to start climbing them,' he said."
Wednesday, September 16, 2009
Raising awareness, funds - Greenwich Time: