Dani was diagnosed with spinal muscular atrophy (SMA) type 1 at 13 months old after seven months of delays, during which she lost strength that can never be regained. Her dad, Charlie, shares their family’s story to show why every baby in the UK deserves the same chance as those in England and Scotland through newborn screening for SMA.
"Months without a diagnosis stole so much from Dani. SMA newborn screening could have changed that."
When Dani was born, she was a happy, healthy little girl. We had no reason to think anything was wrong. Then, at five and a half months old, my wife noticed that Dani’s legs had stopped moving. She’d pick them up and they’d just fall back down. Our health visitor told us she was just “a lazy baby,” but we knew there was something more going on.
A few days later when Dani still wasn’t moving her legs, we spent 18 hours in A&E trying to get answers. All the doctors were baffled. Our lives quickly became appointment after appointment, test after test and endless waiting. We anxiously watched weeks turn into months with no answers.
“Dani had blood tests, scans, an MRI… but while doctors searched for a diagnosis, she was getting weaker.”
We didn’t know it back then, but with SMA, time is everything. Every day without treatment means muscle is lost forever. It took seven months for Dani to be diagnosed. She was 13 months old by then, which is one of the latest type 1 diagnoses I’ve come across. Those seven months stole so much from her.
Finally having an answer – but still waiting
When we eventually met a neuromuscular specialist, she recognised the signs within minutes and called us a few days later with a confirmed diagnosis of SMA. After months of uncertainty, we finally had an answer. But we were told we had to wait two weeks for an appointment, and we weren’t given any guidance or support in those awful moments. Like any parents would, we turned to Google. That was a huge mistake, but we were left completely in the dark with no other option.
Eventually we were admitted to hospital for three weeks of tests, breathing assessments and conversations about what life with SMA would look like. Although Dani had finally been diagnosed, she still waited another four and a half weeks before receiving gene therapy treatment. I still don’t understand why. Most babies diagnosed with SMA now are started on treatment immediately.
I’ll always wonder what could have been
At nearly five now, Dani can’t walk or weight bear, but she has good use of her arms to play and can push her manual wheelchair. Since having a bad respiratory infection earlier this year though, she’s lost a lot of strength and it’s taking a long time for her to regain it back. She needs to use her powered wheelchair more often now as she tires easily.
People ask me whether newborn screening would have meant Dani would be walking and running today. I’m realistic; I know that’s not a given. But I do know she would almost certainly have had more strength than she has now.
“Maybe she wouldn’t need to wear a ventilator overnight. Maybe it wouldn’t be so dangerous for her to get poorly. Maybe we wouldn’t be having to fight so hard to prove that Dani can still eat orally and doesn’t need a feeding tube.”
We’ll never know what Dani might have been capable of if she’d been diagnosed before symptoms started. That’s something we’ll carry with us forever.
The cost of waiting
I know that most decisions in the NHS are made based on cost, which is another reason I can’t understand why newborn screening isn’t being made available in Wales.
Dani was given Zolgensma, one of the world’s most expensive treatments. She still would’ve been given that treatment if she’d been diagnosed at birth through newborn screening, but the difference is, she likely wouldn’t need hardly any medical interventions growing up. Instead, she’s spent months in hospital, relies on specialist respiratory equipment, uses NHS funded wheelchairs, lives in adapted housing and needs one-to-one support at school. Those costs will only increase.
If decision makers choose to ignore the heartbreak and turmoil families go through without newborn screening, I would have at least thought the numbers would speak to the importance of making this happen.
A postcode should never decide a child’s future
What makes me angriest is that this has now become a postcode lottery. Babies in England and Scotland are now benefiting from newborn screening for SMA, or soon will be, but families in Wales are still waiting.
You can live just a mile apart on opposite sides of the border. One baby will be diagnosed before symptoms begin, while another won’t. One child gets the best possible chance. The other will lose abilities they’ll never regain. How can that be fair?
We’re all part of the United Kingdom, but when it comes to newborn screening, it certainly doesn’t feel very united.
Every newborn baby in England to be screened for SMA
The UK government has recently announced (16 July 2026) that newborn screening for spinal muscular atrophy (SMA) will be fully rolled out across England.
