Ophelia, from Hirwaun, Rhondda Cynon Taf, was born in September 2022 and her dad said it was a “normal birth” and she was “healthy”.
At about six months old, her parents began noticing “physical delays” including a decrease in her neck strength and her feeding deteriorating.
“The message we had all the time was ‘she will catch up at some point’,” Warren said.
Eventually, during a meeting with Ophelia’s paediatrician, Warren and his partner Rhiannon asked for a second opinion and were referred to Noah’s Ark Children’s Hospital in Cardiff.
The team there requested an SMA blood test “immediately” and Ophelia was diagnosed in February 2025.
“It was a late diagnosis, she was nearly two-and-a-half,” said Warren, 36, who works in children’s social services.
“Data shows, if they are diagnosed at an earlier stage, medication outcomes are greater.”
Ophelia was kept in hospital for tests for nine days, after which she began a daily oral medication that “maintains muscle cells from degenerating”.
“So if she started that medication earlier, she might not have lost muscle function,” he said.
Since Ophelia’s diagnosis, the family has joined hundreds of others across the UK in campaigning for SMA to be added to the NHS newborn heel-prick blood spot test for all babies.
