Luca Done passed all his newborn tests wth flying colours but his parents noticed something wrong when he was three months old
Heather Chilcott and Kieran Done with son Luca, four and daughter Isabelle, 14 at home in Bridgend(Image: Heather Chilcott)
Luca Done is four. He loves jigsaw puzzles, Paw Patrol and Lego. The little boy, from Bridgend, has a very rare inherited condition, uses a wheelchair and will never walk, but attends Bryntirion Primary’s nursery and loves seeing his friend there.
When he was born he passed all his newborn checks with flying colours and his parents Kieran Done and Heather Chilcott went home with their baby.
When Luca was three months-old they became worried that he wasn’t hitting the expected milestones and took him to the GP. After months of going back and forth for hospital apppointments and tests the family was given devastating news. When he was 10-months old Luca was diagnosed with spinal muscular atrophy type one (SMA), a life limiting neuromuscular condition Sign up for our free daily briefing on the biggest issues facing the nation sign up to the Wales Matters newsletter here
Luca passed all his newborn tests. But aged 10 months he was diagnosed with spinal muscular atrophy type one severe (SMA), a life limiting neuromuscular condition.(Image: Heather Chilcott)
Little Luca is one of only 50 people in the UK and only seven in Wales with SMA. Heather and Kieran are carriers, but don’t have the condition and neither does their older daughter, Isabelle, 14.
Parents who are both SMA carriers have a one in four chance of passing the condition to their children.
The couple, who did not know they were carriers until Luca was diagnosed, want to tell their story to help raise awareness and help their goal of having newborn testing for the rare condition.
For all the worry and uncertainty the family say Luca is “a very much loved ray of sunshine with a smile that brightens up the darkest room”.
“He loves puzzles and jigsaws and is really switched on and busy. That’s why we really pushed for him to attend mainstream. He can hold pens and loves stories and swimming and playing,” said his dad.
Luca spent his first birthday and Christmas in hospital(Image: Heather Chilcott)
Luca’s diagnosis was a shock but Kieran and Heather want to give him the best life they can.
“I had never heard of SMA,” said Heather, “Luca’s diagnosis was a shock. They just told us and sent us home. It is brutal. Then we had a face time call with a consultant two weeks later.”
SMA is so rare that medics and healthcare workers don’t always know about it, let alone the public, so it’s not always easy to get advice, say the couple. The earlier babies with SMA are diagnosed and treated the more effective the treatment is.
Luca’s condition means he can have trouble breathing and swallowing and doesn’t have head control.
When he has caught viruses he has sometimes been so ill he has had to stay in hospital. He needed a feeding tube as a baby because he couldn’t swallow safely, which also affects his speech.
Little Luca Done, from Bridgend, in hospital on his first birthday(Image: Heather Chilcott)
Once babies with SMA lose the use of muscles they cannot be restored, but some medications can help slow that muscle loss and some patients can have gene therapy to help.
Heather and Kieran said it was frightening to be sent home from hospital with such a serious, life limiting diagnosis for their baby. They are not sure what Luca’s condition means for him and their family’s future. Heather has had to give up her job in shop to look after Luca and Keiran, a bricklayer, works seven days a week now.
Learning about their son’s condition and managing his needs at home has been a learning curve. Luca needed to be fed through a tube as a baby, still has one tube feed a day and needs a ventilator at night and for four hours each day.The ventilator helps Luca open up his lungs and means his body doesn’t have to work so hard to breathe.
Luca’s mum and dad say he’s their “ray of sunshine” and is happy and chatty despite his challenges
As he’s got older Luca has just one feed a day through a tube and the rest of the time eats normally. His favourite foods are pasta and pizza.
“He can now eat anything and can show us if he’s choking,” said Heather.
It was his problems feeding which was one of the reasons they first took him to the GP when he was three months old.
Recalling what happened Heather said: “When Luca was born he had all the usual newborn tests and we didn’t know anything was wrong.
“When he was three months old he was a bit floppy and not hitting his milestones. He found it hard to drink his milk. At six months a health visitor came and we made a GP appointment. Luca had no reflex in his knees.
“He had blood tests, but they did not know what was wrong. It was frightening . I don’t really feel we got the support we needed . We waited ages for the tests to come back and Luca wasn’t diagnosed until he was 10 months old.
“The hospital did more bloods – it is a genetic condition and we are both carriers. We were told there is a one in four chance of having a baby with this if both of you are carriers. We had to get tested, we are carriers but don’t have the condition.”
When Luca was finally diagnosed in November 2022 doctors even did a sleep study to test him when he was asleep.
Cared for by doctors at Noah’s Ark childen’s hospital at UHW in Cardiff the little boy is also under doctors at Princess of Wales Hospital in Bridgend and has also been cared for at Bristol Children’s Hospital because he fell ill there during some of his tests. He also has NHS and private physiotherapy.
Doctors have prescribed medicine which sends signals to Luca’s spine, which mimic missing genes because of SMA.
The family visit Luca in hospital – from left to right, Isabelle Done, Heather Chilcott and Kieran Done with Luca(Image: Heather Chilcott)
Heather and Kieran want to raise awareness of SMA among health professionals and the public and want routine newborn screening and gene therapy for SMA..
“The test is a heel prick and costs £5,” said Heather. She believes this is a small price to pay and add to the regular newborn checks even if SMA only affects such a small number of people. If Luca had got medication before he was diagnosed at 10-months it would have meant a far better outcome, she believes.
To add to the challenge Heather’s sister Lucy John was killed in a biycle crash around the time of Luca’s dagnosis and the family recently had to move because their landlord was selling their rented home. They are now in temporary accomnodation and need a wetroom and hoist for Luca.
“It has been a bit of a nightmare and we also had to move out of Kenfig Hill to Bridgend and away from support networks of family and friends,” saidHeather.
“I was on maternity leave when Luca was diagnosed. It has been a massive change and it is difficult. We don’t have many people that can help us because other people, understandably, can be frightened to look after Luca and the bigger he gets the harder it is.
“But he is such a happy boy. He talks all day and everyone loves him. He loves Paw Patrol and Lego and going to the nursery at Bryntirion Primary.
For now Luca has not needed to have any surgery but he will need an operation to put rods in his back between the ages of eight and 10.
That is something his parents said they will deal with together when they get there. Until then their focus is on giving Luca the happiest life they can.
Friends of Kieran and Heather are completing the Three Peaks Challenge on August 22 to raise funds to help pay for the physiotherapy he needs. To donate see here
His uncle is also raising funds to help pay for Luca’s needs, not all of which are funded by the NHS. His fundraising page is here