Blackbird Leys pub regulars take on charity abseil (From Oxford Mail)

Blackbird Leys pub regulars take on charity abseil (From Oxford Mail):

"A team of daring drinking buddies took their friendship to another level at the weekend as they dropped 100ft to raise money for charity.

The 15-strong team of regulars at the Blackbird Pub, in Blackbird Leys, Oxford, joined the abseil down the outside of the Women’s Centre at the John Radcliffe, in aid of the Oxford Children’s Hospital.

According to the Oxford Radcliffe Hospitals Charitable Funds Team, it was one of the best turnouts at one of their abseils, and the event looks set to raise as much as £50,000 for equipment and facilities at the hospital.

The friends were inspired to take the plunge by Ciara Brennan, of Balfour Road, whose daughter Rhianna receives regular treatment at the hospital for a rare genetic disorder.

The three year old has been diagnosed with Williams Syndrome, which can affect the growth of a child physically and mentally, and means the little girl develops dangerously high levels of calcium in her body."

Raising awareness, funds - Greenwich Times

Raising awareness, funds - Greenwich Time:

"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."

Mum's plea over theft of disabled son's bike

Evening News 24 - Mum's plea over theft of disabled son's bike:

"The youngster, who suffers from Williams Syndrome, which physically and mentally means he is about the age of a 14-year-old, has been left upset by the theft which happened outside a shop in Distillery Square."