On 1 March this year, shortly before his second birthday, my son, James, was diagnosed with Williams Syndrome (WS).  This is a very rare genetic disorder, occurring in only approximately 1 in 25,000 births.  It is non-hereditary and caused by a deletion of genes from chromosome 7. 

James has many of the characteristics of WS, including a very friendly and sociable personality; distinctive ‘elfin’ facial features; a love of all things musical; no fear of strangers; hyper sensitivity to certain noises; learning difficulties plus sleeping and eating problems. Thankfully, the medical tests on his kidneys were clear and although he does have the classic Williams symptom of a narrowing of the main artery to the heart, it is mild. Many people with WS have heart defects which contribute to a lower life expectancy.  

On 23 September, along with my two brothers-in-law, I will be participating in the Wild Thing, a 10K obstacle race including obstacles such as the swamp of doom, tightropes, tunnels, cargo nets, mud and an assault course!  We are hoping to raise £1000 for the Williams Syndrome Foundation and increase awareness about this condition. 

The WS Foundation is the main UK charity for people with the condition and their families.   Regional volunteers organise various days out which provide the opportunity for those with Williams to spend time together and for their families to share experiences and help each other.  As WS is such a rare condition, this support is vital.

In May, we took James to London to take part in important research funded partially by the Foundation.  Such work is imperative to better understand this condition and ensure that every person with WS gets all the support they need. Whilst the Foundation does everything they can, more research is desperately needed.

The WS Foundation actually organised the test that confirmed James’s diagnosis after doctors dismissed our suspicions.  If it wasn’t for them, I would be no closer to discovering what was wrong with my little boy and getting the right support for him. 

The WS Foundation is run for parents by parents. There are no paid fund-raisers and (aside from minimal administrative expenses) all funds go directly to research, welfare and support.  

Any donation, however small, will make a difference and is greatly appreciated.