A Gwent couple are fundraising for treatment to improve the quality of life for their ten-month-old son who has a rare genetic condition.
When Lucian Neale was four days old, his parents Samantha Williams and Justin Neale were concerned that something wasn’t right.
Samantha, who was diagnosed with gestational diabetes during her pregnancy, told Cwmbran Life: “He would sleep for hours, and not move. I called 111 and took him to the out-of-hours doctors. I thought his blood sugar could be low.
“I was told ‘there is nothing wrong, be grateful’.
“As a mum, you just know there was something. At five weeks I thought he had a milk allergy, he had unusual breathing.
“I was told it was reflux and to go home.
“I met my cousin who had a baby a couple of weeks older than Lucian. I went home, watched him, studied him. He wasn’t moving in his cot, not moving his hands or legs.”
The couple, from Sofrydd, took him to see a doctor at five weeks and five days old. But was told he wouldn’t be holding his head until “around six weeks”.
“What would happen in two days? I know you shouldn’t google but I’m glad I did. I was so upset.
“I went to the Grange Hospital at six weeks and the staff were amazing. I hadn’t slept for two days. The doctors were amazing.
“I told them I thought it was Type 1 Spinal Muscular Atrophy (SMA) and they said ‘we think that as well’.
“There was light at the end of the tunnel. There is treatment to slow the process down.”
Spinal Muscular Atrophy UK say the condition “is a rare, neuromuscular condition. It causes progressive muscle wasting and weakness. It may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing.”
But during a trip to a hospital in Bristol, the family were told Lucian was the “worse one they had seen” and that he wasn’t strong enough to have a type of gene therapy.
“He was that severe. We were told to take him home for palliative care. We were devastated, we were in pieces.”
She said he was given a life-expectancy of around two years.
Doctors at Noah’s Ark Hospital in Cardiff started him on a drug called risidiplam to be taken once a day for the rest of his life.
“Within four days we started to see little improvement and started to see hand movements. We came home after 35 days in hospital. We had to learn how to feed him. They put in a feeding tube as he had swallowing difficulties.
“We had to learn how to use a suction machine as he had a ventilator overnight because of his breathing. I wanted to go home but was scared to take him home. It was scary but good to take him home.
“We isolated for six months. Only me and his dad held him. We were scared of an infection. A common cold can be catastrophic.”
They hope risidiplam will get him strong enough to be eligible for the gene therapy he wasn’t able to have due to his weakness. Samantha said this treatment on the NHS costs around £1.8m.
His parents now pay for intensive physiotherapy with overnight stays in England to build his strength.
Support the fundraiser for Lucian
A GoFundMe page has helped the family buy items including a £5,000 special pram with support and specialist physio treatment at a private clinic in Chesterfield.
Samantha said she has found a clinic in China that offers a treatment for a “tenth” of the price in the UK and they want to take Lucian there to give him “the best possible chance at life.”
Upbeat Beatles gig to raise money for Lucian
The Upbeat Beatles are performing in Cwmbran tonight- Friday 29 March- to raise money for Lucian. They are at Pontnewydd Workingmen’s Club and tickets are £12. Doors open at 6pm.
