16 months ago my son Sacha was diagnosed with 2q37 Deletion Syndrome, a rare genetic disorder with a wide range of implications including movement difficulties and intellectual disabilities.

Since then, we have received incredible support from friends and family, which has enabled us to access some extremely effective, leading-edge therapies for Sacha, both in the UK and the US. In particular, our three trips to the NAPA Center have had a truly transformative effect on Sacha’s development, first enabling him to stand, then to take his first steps and finally to walk with ever more confidence. Without these intensive interventions he would almost certainly still be immobile today, and professionals who work with Sacha often express astonishment at the rate of his physical progress after trips to NAPA.

However, Sacha still faces some big obstacles. While he can now walk, his  hypermobility and hypotonia mean that he still can’t get up off the floor if he falls over. He can’t bend down to pick things up if he drops them, he can’t climb stairs and he can only crawl a couple of feet. We continue to give Sacha at least one hour of physiotherapy a day at home, and he gets occasional sessions with the NHS, but it is a long and complex process of building up the neurological bases for coherent movement.

It is also becoming increasingly clear that Sacha’s biggest remaining obstacles are cognitive, and he remains likely to grow up with significant intellectual disabilities. He currently remains stuck in a prelinguistic phase, when other toddlers his age are typically speaking in sentences, and he still has very little practical engagement in play. So for 2020, in addition to a trip to NAPA in September, we are trying to fundraise to cover the costs of weekly MAES therapy in London, which targets cognitive development and expands the capacity for problem solving through play.

I will be trying to raise as much of the funds as possible by running a half marathon at the end of March, and hopefully persuading a team of people to do the same. Please consider sponsoring me, or contact us if you're interested in joining in!