Amy Carpenter
Amy's Walk For Williams Syndrome page
Fundraising for Williams Syndrome Foundation
Story
Thanks for taking the time to visit my JustGiving page.
I am walking 77 miles a month for 7 months along with a fellow Williams Syndrome mummy Natalie and some fantastic friends too
What is Williams Syndrome?
Williams Syndrome is a rare congenital disorder that occurs randomly and affects around one in 18,000 people in the UK. It is non-hereditary and causes distinctive facial characteristics a wide range of learning difficulties. Infants often have delayed development and can develop physical and mental health problems, including anxiety and depression in later life. All WS people tend to be talkative and excessively friendly towards adults. The cause of Williams Syndrome is a tiny deletion of part of chromosome 7, which includes the elastin gene. A simple blood test can establish whether the elastin gene and other genes are missing.
My daughter Grace was diagnosed with Williams Syndrome when she was 8 months old and the Williams syndrome foundation as been a massive support to me and my family. From giving us information help and advice when we need it to arranging meet ups with fellow Williams Syndrome families.
Most WS individuals have a slight narrowing of the aorta above the aortic valve. In many cases this is insignificant but it can be detected on cardiac ultrasound and should be monitored. Other more serious heart and vascular abnormalities can occur. When grace was 18 months old she under went open heart surgery to correct the narrowing which was a success and she has continued to strive and achieve since.
There is no cure for Williams Syndrome because it is not an illness, and there is no way to prevent the genetic abnormality that causes it. Early diagnosis will not prevent potential problems but can lead to a better understanding and better assistance for the child. There may be raised levels of calcium (hypercalcaemia) in the blood within the first two years of life – in these cases, a low calcium diet can stabilise the situation. Some WS children are educated in mainstream schools with assistance but the majority require the support offered in specialist schools. Grace has recently started at our local specialist school and she is coming a long in leaps and bounds we are very happy with her placement and the progress she is making.
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