The three and a half years since we were told that Sacha had a rare genetic disorder have been an intense ride, from the incredible wave of solidarity we felt when we first told friends, family, colleagues and comrades, through rounds of intensive therapy, breakthroughs and set-backs. Covid intervened along the way, sending Sacha spiralling into a regression, and in autumn it took his best friend, Grandma Sue, who always had a special way of connecting with Sacha and seeing a fully three-dimensional personality despite his difficulties. But we’ve also seen Sacha make incredible progress on a gross-motor level, overcoming his difficulties one by one with the right kind of help.
The A word
A few weeks ago, Sacha got a second major diagnosis: Autism Spectrum Condition. A lot of people with 2q37 Deletion Syndrome also get diagnosed with ASC; the complex implications of the loss of genetic information can bring with them difficulties on social and communicative levels. We have long been ambivalent about ‘the A word’, particularly given the distance between at least stereotypical understandings of that condition and Sacha’s actual personality: a warm, loving, socially-oriented character from the beginning. But we have accepted the diagnosis nonetheless: it is clear enough that Sacha has serious difficulties with communication and complex social interaction, and ASC names that in a way that—at least for most people—the technical genetic jargon of a 2q37 deletion can’t.
In terms of disability politics, there are even some virtues that can be claimed for ASC. ‘Autism’ has long identified a wide range of differences, since Hans Asperger’s recognition of the particular gifts of some kids who were following a non-standard developmental path. This has enabled many conditions that would once have been identified simply in terms of lacks, delays and impairments to be reconceptualised under a heading of difference. With that has come a recognition that learning and development that can seem blocked might instead proceed via an alternative route. And thus it indicates the possibility not just of affirming divergences, but of working with them therapeutically to help the individual find their own way to flourishing.
As Sacha gets older, the major physical milestones that were a necessary focus in his early years are starting to recede. He’s now very mobile, indeed quite dynamic on his feet. There will probably always be some particularities to the workings of his body—he still struggles, for example, to keep his core stable while he pushes down through his leg to climb stairs, prompting him to compensate with his arms and a sort of hopping motion. These things can always be helped with good physiotherapy, but we have reached a point where they don’t constitute major obstacles to Sacha’s development. That is a significant victory, and in large part the product of the excellent therapy we’ve been able to give him with the help of all his supporters. But it’s time to refocus on finding those alternative routes to learning and communicating.
Words mouthed silently
Sacha will be starting school in September, having been held back for a year to give him some time to recover from the regression he fell into during the Covid lockdowns. The school is known for its thoughtful approach to disability integration, so we have good reason for some cautious optimism. Sacha’s greatest difficulty at school will lie in communication: with his regression he lost the handful of signs and words he had as a young toddler. Now, unevenly, in fits and starts, we see movements back towards communication: a nod here, a makaton sign there; the shape of a word mouthed silently; a blurted noise corresponding to a particular context. When we successfully interpret these efforts, Sacha beams with pleasure, but there is a lot of frustration too.
Conventional speech therapists have struggled to find ways to grapple with what are evidently serious neurological impairments stemming from the genetic deletion. But there are roundabout routes which can lay bases for communication without placing unhelpful stress on the physical production of words or signs. Patterns of play that develop complex interactions are particularly important, and that is something that the Floortime approach really targets very effectively. Also, Sacha has always responded well to music, and we’ve found recently that a return to regular music therapy sessions—long interrupted by Covid—has brought back more of the jovial, playful character we used to see in the early toddler years, drawing him into active social play. Similarly, good occupational therapy can help Sacha develop the play skills he needs to participate with others. These are the levels that we are now looking at targeting for further rounds of therapy.
We’re thus fundraising again, for therapy in these areas, with the aim of doing a big push before school starts. We have a little team running the Hastings Half Marathon next weekend and are looking at doing more events later in the year. As always, your help with this—even if it just amounts to circulating fundraisers—is always profoundly appreciated.