There is a growing consensus that DNA need not always be destiny, and if one intervenes in the right way—and early enough in a child’s development—it is possible to substantially improve prospects.
This is because there are lots of environmental factors that affect the way our genetic predispositions actually play out, and because the human brain is at its most plastic in the early years.
A genetic disorder can make it much harder for a child to follow a typical path of development. In Sacha’s case, the chronic hypotonia and hyperflexibility that result from 2q37 deletions have made it extremely difficult for him to move his body, and to learn about its relationship to the world around him.
It is conventional wisdom that children should be left to develop spontaneously, at their own pace; that they all do things at different rates, and so on. While this may be true for typically-developing babies, in cases where an underlying disorder blocks development, things do not necessarily just get worked out by themselves.
Rather, neurological formations that are laid down in the early years become increasingly rigidified over time, and if synapses are not used, synaptic pruning actually trims off the excess. This can have the effect of freezing in a developmental problem as a long-term disability.
The point of early intervention is then actively to help an infant to develop cognitive and motor skills that they are not getting spontaneously, and to put in place positive, structured neurological foundations where the neural patterns of a disability might otherwise become entrenched.
Although it is increasingly recognised as much more effective—and more economical—than later and longer-term management of a disability, intensive early intervention for cases like Sacha’s is not generally covered by the cash-strapped NHS, which is why it is necessary to fundraise privately.
We hope that in future, the NHS will offer this sort of treatment to children in similar circumstances, and will be pushing for such cover through our local Clinical Commissioning Group.