In February 2019, at 34 years old, our son Rob was diagnosed with a rare genetic condition - SYNGAP 1 Syndrome.
This horrible condition results in severe intellectual disability, autism, epilepsy, speech delay, sleep problems, sensory processing disorders and hypotonia (low muscle tone). SYNGAP 1 is a spectrum disorder, 'Syngapians' are not affected equally, however, the impact on the individual and their family is huge and lifelong.
Currently there is no cure and no specific therapies are available.
Discovered in 2009, there are at present only around 1200 people worldwide with this condition, most are children. About 120 live in the UK.
The cause of this condition has been identified and documented. Syngapians possess only one good copy of the SYNGAP gene. Coding errors in the other copy lead to an overall lack of a protein which is essential for normal brain development and function.
Thanks to the hard work of mainly Syngapian parents and families in the UK, USA and Europe, awareness of this condition is increasing and funds have been raised to pay for research into both the condition itself and specific therapies to alleviate the symptoms of this horrible condition.
In January of this year SynGap Research Funds in the UK and USA awarded a grant of $180,000 to the Patrick Wild Centre and Centre for Brain Discovery Science at Edinburgh University. This research aims to advance the science around gene therapies to correct SYNGAP 1. SynGap Research is also supporting research in other countries.
Research is expensive and the SYNGAP Community is small.
Our community must further improve the awareness of this disorder and find specific treatments urgently.
At a SynGap1 UK Family Conference last year, a parent commented to me "My daughter has lost her childhood to this horrible condition but maybe, just maybe she might not lose her adulthood'.
Please help us by sponsoring this skydive. At 68 years of age, being tumbled out of a light aircraft at 10,000 feet, attached to a complete stranger, is not my most favoured way of spending a Friday morning!
All monies raised will go straight to the SynGap Research Fund UK.