The Barrett family and friends will be doing a walk on 6 August, to raise funds to help develop a gene therapy for people with SYNGAP1. Helena, my 10-year-old daughter has SYNGAP1 and will need specialist round the clock care for the rest of her life. 

SYNGAP1 is a rare neurological condition caused by a gene mutation in chromosome 6. This leads to the highly complex and severe neurological symptoms seen in SynGAP patients such as intellectual disability, epilepsy, low muscle tone, motor delays, autism, coordination disorder, sensory processing disorder, dyspraxia, speech delay/apraxia as well as sleep, feeding and behaviour disorders, all of which contribute to a much reduced quality of life. Our journey over the past 10 years has and continues to be an increasingly challenging one. 

Because of the rarity of this disease, funding is very low, many healthcare professionals remain unaware of it and are looking to the families for insight, so it is up to us, as parents of a “Syngapian,” to raise funds to pay for research that might address the root cause of her condition and find a cure.  I volunteer with the Syngap Research Fund (SRF), here in the UK. SRF has a clear road map to a cure and some fantastic people who lead and run it – this is what gives me and my family hope.

I will be walking with family and friends from St Paul's Cathedral in London to St Albans Cathedral in my home city. Others are meeting me along the way, including Helena.

The monies will fund research into an adeno associated viral (AAV) gene therapy that aims to normalise SynGAPlevels. It is being carried out at Edinburgh University by two leaders in the field of gene therapy, Professors Stuart Cobb and Peter Kind.

Please help by donating on this page, by sharing our story with friends or by joining us for as much or as little of the walk.

Thanks in advance for your support.

The Barretts x