A BABY from Blaenau Gwent is fighting a rare genetic condition that affects one in 10,000 while his parents raise money to give him the specialist equipment he needs.
The parents of eight-month-old baby Lucian were given a two-year life expectancy for him after going to multiple hospitals around South Wales and Bristol.
Justin Neale and his partner Samantha Williams told The Argus that when they were first told their son had the condition, they were “distraught, like our world was falling apart because we never heard of it”.
The couple have said the waiting list to get treatment on the NHS is so long, they have been looking into private treatment which has astronomical costs.
What is Spinal Muscular Atrophy?
The NHS describes Spinal Muscular Atrophy (or, SMA) as a "genetic condition that makes the muscles weaker and causes problems with movement’ affecting all parts of the body".
Symptoms include ‘floppy or weak arms and legs, difficulty sitting up or crawling, twitching of the muscles, swallowing and breathing problems’.
It comes in four main types and Type 1, which baby Lucian has, is the most severe.
Baby Lucian, now eight months old, was diagnosed with Type 1 Spinal Muscular Atrophy (SMA) when he was just two months old.
Doctors had told mother Samantha Williams that there was nothing to worry about when, during her pregnancy, she took multiple trips to the hospital "due to lack of fetal movement".
He was eventually admitted to the Grange for tests, then a referral led them to Noah’s Ark Children’s Hospital in Cardiff when Lucian, at eight-weeks-old “was diagnosed with SMA type 1 with 2 copies”, said Samantha.
Multiple treatments were recommended, with some being considered unsuitable as baby Lucian as he was too weak.
Rainbow baby
Samantha Williams has called Lucian a 'rainbow baby' as she had previously lost her son Carson at 29-weeks of her pregnancy.
Although the delivery of Lucian was a planned caesarean which Samantha said "all went well", Samantha's concerns grew when baby Lucian was four days old.
"I went to the out of hours as I was concerned that Lucian was sleeping most of the time even through his feeds", said Samantha.
The 'best outcome'
Justin has explained that while they were finding it difficult to cope, they found out that the diagnosis was one of the best outcomes.
"We overcome it by realising the SMA was the best outcome of what he could have as there's treatment for that. If he had the other things wrong with him, there was actually no treatment".
Without proper treatment of gene therapy, spinal infusions or life-saving equipment, Lucian would not be able to push through.
Sky-high costs
The cost for life-saving medicine for Lucian in the UK, Justin said, "will cost I think £17,000 a bottle which lasts three months.
"We believe Italy and also China offer the bottle for under a thousand pounds".
Justin said fees for treating the condition are “so high that they need to raise money to get specialist equipment like an adapted bed and pram as well as physiotherapy”.
The family of baby Lucian have started a fundraiser this week to raise money for "research treatments, clinical trials, specialist equipment, orthotics and therapies".
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