This is Sacha. He’s four years old and a bit of a character. He loves to laugh and to make others laugh too, drawing people into play with his infectious giggle. He likes to sing and read, and is a great swimmer, splashing around in a pool with a confidence and coordination beyond his years.
Sacha has a rare genetic disorder called 2q37 deletion syndrome. This has complex and profound effects on his development, from the physical to the cognitive, and it makes most things much harder for Sacha than for typically-developing kids. In his early years he struggled to stand, crawl and walk; he still struggles with movements that involve knee flexion. He never learned to play like a typically-developing child, and remains unable to communicate either verbally or by sign.
But when he has been able to access the right sorts of professional help, Sacha has made remarkable progress. On the basis of crowdfunding by his parents and some dedicated supporters, Sacha received targeted therapeutic interventions from the likes of the NAPA Center, which first helped him to become mobile and able to explore the world; MAES Therapy, which worked on stimulating cognition and problem-solving; the Floortime Center, which helped Sacha to develop more complex social interactions. Time and again, professionals working with Sacha have been surprised at the extent to which the right therapy can improve what might otherwise be a quite bleak prognosis.
Sacha’s therapeutic programme was impacted heavily by COVID-19: more than a year’s worth of intensive therapy sessions had to be cancelled, and even the minimal services offered by the state dried up. The result was a predictable tailing-off of progress. Sacha withdrew into his shell for a long and difficult period—something from which he is only now starting to emerge.
As COVID restrictions ease we are thus hoping to get Sacha’s therapeutic programme back on track. Our first goal is to return to NAPA, to resume the programme of intensive interventions that was doing so much to help Sacha before the pandemic. This time the focus will be on speech, fine motor control in the hands, and stair-climbing. Sacha longs to be more capable on these levels, and his frustration is palpable. Our second goal is ongoing sessions at MAES, chipping away at the barriers to Sacha’s cognition and communication.