Thanks for taking the time to visit my JustGiving page in aid of Unique – The Rare Chromosome Disorder Support Group for whom I am running the Bristol Half Marathon.

 

Jasmine was born in March 2009.  In a matter of weeks it became clear that Jasmine's development was not following the same path as other children her age.  Despite the best efforts of a superb team of Consultants at Bristol Children's Hospital, it took until January of this year for us to discover that Jasmine is the 116th person to ever be diagnosed with 9q34.3 deletion syndrome, subsequently named Kleefstra Syndrome. 

 

Kleefstra Syndrome is a rare chromosome disorder which shares similarities with a number of other disorders, the most famous of which is probably Downs Syndrome.  We were put then put in touch with Unique who have offered continuous support through the past 6 months.  They have funded a study weekend where we were able to discuss Jasmine with other parents of children with Kleefstra Syndrome.  We were also able to take part in a study which has enabled Dr Kleefstra to further her research into the disorder and help make like easier for parents and children who have no other access to support groups for their conditions.

 

We were lucky in finding Unique but they desperately need additional funds to further promote their work in supporting families who sometimes have nowhere else to turn.