Luca Done, a four-year-old from Bridgend, has a rare inherited condition called spinal muscular atrophy type one (SMA). He passed all newborn checks but was diagnosed at 10 months. His parents, Kieran Done and Heather Chilcott, are now campaigning for routine newborn screening for SMA.
Early signs and diagnosis
When Luca was three months old, his parents noticed he was floppy and not hitting milestones. They took him to the GP, and after months of tests, he was diagnosed with SMA at 10 months. SMA is a life-limiting neuromuscular condition. Only about 50 people in the UK and seven in Wales have it.
Heather and Kieran are both carriers of the SMA gene but do not have the condition. Their older daughter Isabelle, 14, does not have it either. Parents who are both carriers have a one in four chance of passing the condition to their children.
Living with SMA
Luca uses a wheelchair and will never walk. He needs a ventilator at night and for four hours each day. He also has a feeding tube for one feed a day, though he can eat normally otherwise. His favourite foods are pasta and pizza.
Despite his challenges, his parents describe him as “a very much loved ray of sunshine with a smile that brightens up the darkest room.” He attends Bryntirion Primary's nursery and enjoys jigsaw puzzles, Paw Patrol, and Lego.
Campaign for newborn screening
Heather and Kieran want SMA added to routine newborn checks. The test is a heel prick and costs £5. Heather believes this is a small price to pay, even though SMA is rare. If Luca had been treated before diagnosis, the outcome might have been better.
The family has faced additional challenges. Heather's sister Lucy John was killed in a bicycle crash around the time of Luca's diagnosis. The family also had to move from Kenfig Hill to Bridgend because their landlord was selling the house. They are now in temporary accommodation and need a wetroom and hoist for Luca.
Friends of the family are completing the Three Peaks Challenge on August 22 to raise funds for Luca's physiotherapy. His uncle is also fundraising to help cover costs not funded by the NHS.
