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Louise Thomas
Editor
A mother whose previously healthy newborn son was diagnosed with a rare spinal condition after he abruptly stopped moving at seven weeks old is now unsure if he will ever take his first steps.
Amy Lewis, 33, from Cardiff, was devastated to learn in September 2023 that her son Niko, now one, has spinal muscular atrophy (SMA) type one, a condition causing limited movement, inability to sit unsupported, and difficulties with breathing, feeding and swallowing due to low levels of the survival motor neuron protein (SMN).
Amy, a stay-at-home mum to Niko and his elder brother, Blake, four, also learned that without treatment, Niko’s life expectancy would be under two years.
Despite undergoing successful gene therapy, Niko has faced severe health issues, including contracting respiratory syncytial virus (RSV) in March 2024, which required life support, and a scoliosis diagnosis in May 2024.
Amy now ensures Niko wears a ventilation mask every night, uses three nebulisers daily, and a cough assist machine three times a day, which she said can be “overwhelming”.
She is now hoping to get more equipment for her son such as a £3,000 custom-made back brace, so she has set up a GoFundMe with a goal of £10,000 to help get private physiotherapy and extra equipment.
Amy told PA Real Life: “It’s very overwhelming – some days are better than others, especially because I’m on my own day-to-day.
“Most nights I sit there awake with him just obsessing over his oxygen levels and hoping he’s OK.”
After giving birth to her youngest son, Niko, in June 2023, everything “seemed normal” and he was a “very happy and healthy” baby.
However, when Niko was seven weeks old, he began to struggle with movement.
Amy explained: “He was suddenly very, very unhappy all the time and he didn’t move – his arms weren’t moving like they did when he was first born.
“His head wasn’t really moving; he was just very still.”
Concerned, Amy mentioned it to her health visitor during his eight-week check-up and was advised to contact her GP immediately.
At the GP appointment, the doctor noted that Niko’s “muscle tone was quite low” and referred him to the hospital.
The following week, while waiting for the hospital appointment, Niko began gasping for air and crying after just a few drops of milk, and he also became constipated.
Amy was worried but “hoped for the best”, reassuring herself that Niko might just be a “bit delayed” compared with his brother.
In September 2023, Amy received the call to take Niko to the hospital, and despite doctors needing to keep him overnight for more tests, she remained optimistic.
She said: “The doctors were saying a lot of big words and medical conditions.
“My mum was really upset because they were keeping him in, but I wasn’t even thinking ‘Oh, gosh, this sounds bad.’ There’s no point in being upset when we don’t know what’s wrong.”
The following day, accompanied by her best friend, Amy was told that Niko had SMA type one.
“I heard of it I think when they initially looked over him, as something he may have, but I had no idea what it was apart from that,” Amy explained.
“I thought ‘Oh God, surely that’s not what he’s got’ because he looked so healthy, he was born healthy, he was gaining weight.
“When they told me, it was all a blur and I was in a state of panic.”
Types of SMA according to the NHS
There are several types of SMA, which start at different ages. Some types cause more serious problems than others.
There are several types of SMA, which start at different ages. Some types cause more serious problems than others.
The main types are:
- type 1 – develops in babies less than 6 months old and is the most severe type
- type 2 – appears in babies who are 7 to 18 months old and is less severe than type 1
- type 3 – develops after 18 months of age and is the least severe type affecting children
- type 4 – affects adults and usually only causes mild problems
Amy and her friend went into a private room, where she began to look up the condition and learned that children with Niko’s exact condition do not tend to live past their second birthday.
She said: “My friend told me to ignore it and let’s wait and see what happens – it was just a blur.”
After a few weeks, Niko was transferred to Bristol Children’s Hospital to explore treatment options.
Amy opted for gene therapy, and Niko was administered Zolgensma through a one-time infusion, which aims to provide a new copy of the SMN gene.
Niko recovered from the treatment “very well” and Amy began to notice he was improving.
She added: “He has gotten stronger for sure – I think after about a month his back felt stronger, and before he could not hold himself up, and then his arm started moving and grabbing things.”
But, in March 2024, Niko contracted respiratory syncytial virus and ended up on life support for a week.
He was in the hospital for 10 weeks and, in May 2024, was diagnosed with scoliosis.
Since then, Niko has had to wear a ventilation mask every night, use three nebulisers a day, and a cough assist machine three times per day, and take antibiotics three times a week.
Niko also has constant check-ups where he is “poked and prodded” as the treatment he was given can lead to heart and lung issues.
Amy now wants to get more equipment for her son such as a custom-made £3,000 back brace.
She has set up a GoFundMe with a goal of £10,000 to help get private physiotherapy and extra equipment.
She said: “I want to get him the proper custom-made spinal brace but that unfortunately costs £3,000, but I think it’ll give him the best chance and I’ve seen other children I know use them and they’re thriving.”
To donate to Amy’s GoFundMe, visit: www.gofundme.com/f/2yvmm-nikos-journey.
Looking to the future, Amy is uncertain about what lies ahead for Niko.
She explained: “I think the oldest child in the UK to have SMA and have the same treatment as Niko is seven, so it’s hard to tell and doctors aren’t sure because it’s such a new condition.
“But there’s a very, very high chance that he won’t walk – he will be in a wheelchair or maybe he will be able to take steps but that will be very far in the future.
“We don’t know how the scoliosis will impact him either, because sometimes it can impact breathing.
“It’s really hard not knowing.”
