In the kitchen of their home in Newtonhill, Allyson and Stuart Townhill are leafing through the family wall planner. It contains the usual entries for an Aberdeenshire family with two children — a swimming pool visit, trip to the park, job commitments for Stuart, who works just up the A92 in Aberdeen. The Townhill’s calendar, however, is just that little bit busier.
As the pages flip past, reams of pink entries are visible, packing out the months amid a scattering of other colours. Stuart is on hand to explain. “Pink’s generally something to do with medical,” he says.
“It could be that someone’s coming to service the hoist or a doctor’s appointment.” Allyson keeps on flicking through the pink-filled pages. There is a slight sigh, and a chuckle.
“I mean, we’re pretty busy,” she says. SMA – the rare condition that causes children’s muscles to weaken Sitting quietly — for now, at least — with her mum and dad is the subject of at least half of those pink entries. Lucy Townhill is 11 years old and has been in and out of hospital since being diagnosed with spinal muscular atrophy (SMA) when she was a toddler.
A rare genetic condition inherited at birth, SMA affects the motor neurons in the spinal cord, causing the muscles to weaken. It’s a genetic form of MND, but one that affects very young children. These children, as they grow, can fail to develop basic skills, such as rolling over, sitting, standing and walking.
In time, the condition can worse.
