Sunday 2 October, I will be running the London Marathon to raise funds for the SynGap Reserach Fund (SRF) to help children with the rare genetic disorder SynGAP1. 

Close friends have a 5 year old son who was diagnosed with SynGAP1 two years ago. This is a rare and unknow disorder in which the lack of a specific protein in the brain leads to many neurological issues including epilepsy, autism, sleep issues, speech delay and impulsivity. Having seen up close the impact on their little boy and the wider family underlines the necessity to develop treatment, therapies and support systems for a disorder that receives little attention due to the small number of patients. The mother Katrien Deckers has been instrumental in setting up the UK/European arm of the fund providing support for families and work together with researchers and clinicians to accelerate the science to rectify these major SynGAP1 challenges. However, with the right tools, supported by the fund, huge improvements can be achieved, from the start of diagnosis to the current lives of a child and that of the family. Making me very keen to support the fund.

This will be my 3rd marathon which I will use to get another step closer to the 'magical three hour' mark, increase awareness and raise funds for SRF. 

Please join me in supporting SRF and make a donation on this page, every little helps.

Thank you so much for your support.

Raoul

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The mission of SRF is to improve the quality of life of SYNGAP1 patients through research and development of treatment, therapies and support systems.

The charity is a global group of families and SRF is the largest non-government funder of SynGAP research. The founders cover all operational expenses, allowing 100% of donations to go to research. 

SYNGAP1 is a rare genetic disorder caused by a variant of the SYNGAP1 gene. The SYNGAP1 gene is located on Chromosome 6 and is responsible for producing the SynGAP protein. This protein acts as a regulator in the synapses where neurons communicate with each other. A variant of the SYNGAP1 gene leads to the gene not producing enough SynGAP protein. Without the right amount of SynGAP protein, there is an increase in excitability in the synapses, making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in SynGAP patients, including epilepsy, autism, sleep issues, speech delay, hypotonia (low muscle tone), impulsivity and aggression.