18 May

SMA Type 1: Marley and Meadow's Different Stories of Diagnosis, Treatment and Recovery

Marley is an extraordinarily resilient child who, at the age of 5, has already appeared on a national television programme, ITV's This Morning. His mother, Rosie, says he's "obsessed" with his younger sister, Meadow, both happy, smiling and seemingly healthy babies. But the two siblings will lead very different lives as a result of one thing they have in common - they both received a diagnosis of Spinal Muscular Atrophy (SMA) Type 1.

The Early Signs and Symptoms of SMA

Marley was born in the midst of the COVID-19 pandemic. A quiet baby, but seemingly healthy nonetheless. However, the first four months of his life would consist of back-and-forth trips to the GP and A&E with concerns of a consistent rattle in his chest, initially brushed off as a viral infection of no concern, but his parents knew something wasn't quite right. Social distancing restrictions had begun to ease, and it was Rosie's family who validated her concerns, highlighting the fact that he wasn't holding his head up fully or kicking as expected.

Their family nurse eventually agreed to do a milestones test once at four months old and again at five months old. Rosie recounts the day, explaining, "Our family nurse said he had actually decreased in some of his milestones. She said she’d ring the GP on Monday morning to discuss the results with the doctor, but within about two hours, I got a call saying, “Hey, we’re going to send you an ambulance out.” I didn't really understand why, at that point, I didn't feel like we needed an ambulance. I was at my sister’s house when they phoned me, so I quickly rang my partner, Wes, and said we were going to the hospital. We were both just like, "What is going on?" We were quite taken aback by it all.

It was very quick from that point. I’m so glad she acted on it, but Marley was already five months old. We found out his diagnosis in October 2020. By then, he’d lost all his muscle tone, couldn’t lift a rattle, had really poor grip, and couldn’t hold his head up."

The family then spent the next two weeks in the Hull Royal Hospital learning how to use a nasogastric tube to feed Marley, and navigating life attached to a saturation machine, still unaware of what was actually going on inside Marley's body. At the time, it was standard for test results to take two weeks to come back, and once the family was transferred to Leeds General Infirmary (LGI), they received the news that would change their lives forever.

The Moment of Diagnosis

Rosie says, "We were so grateful my mother-in-law was there with us in that meeting. Marley has SMA Type 1, they informed us. The first thing they say is that up until 18 months prior, there was no treatment. Children wouldn’t live past the age of two. That’s what you hear first. My partner and I just cried through the entire meeting. It all went in one ear and out the other. We couldn’t process anything in that meeting because you hear those words and your mind just goes here, there and everywhere.

It’s heartbreaking. You spend every minute wondering what’s around the corner. You know, what if he doesn’t make it to two years old? But then he got treatment, and we started to see improvements in his movement, until he got sick."

What is SMA?

Spinal Muscular Atrophy (SMA) is a rare genetic condition that causes progressive muscle weakness that could present as problems with muscle strength, movement, breathing or swallowing, among other symptoms. In its most severe form, Type 1, symptoms often appear within the first six months of life.

Marley's Journey of Treatment and Setbacks

Marley's treatment consisted of a course of spinal injections and gene therapy administered at one of four national SMA treatment centres in England. After the gene therapy, Marley became unwell with rhinovirus and enterovirus and was in hospital for five weeks on life support. Then he became ill again, developed sepsis, and went into cardiac arrest for around 40 minutes.

Rosie explains, "It was touch and go for a while. They rang us at 7am saying, “Marley’s currently having CPR.” We ran over from the hospital accommodation, and they told us to call our parents and prepare to say our goodbyes, essentially. 40 minutes later, they got a pulse, and thankfully, he’s bounced back and done amazingly ever since. He’s five years old now and thriving!"

The Role of Orthotic Support in SMA

It was during this time in the hospital that the need for further support of his limbs was identified. This is where Kate Chauhan, Steeper Clinical Specialist Orthotist, was able to help out, improving Marley's comfort day-to-day. Kate says, "For children with SMA, maintaining posture and supporting breathing can be critical, making early orthotic intervention an important part of long-term care. The first time Marley was fitted with his made-to-measure spinal brace and KAFOs, he was able to stand with minimal support immediately. He was so proud of himself, and we were so proud of him, too! It is lovely to be able to support independence and strength for Marley and the other children with SMA that we see."

Rosie says, "Kate's amazing with Marley. She always makes sure we understand our options and takes everything into consideration, like his rib flare and breathing. She’s really kind and caring.

He doesn’t mind wearing his spinal brace; he knows he has to, and he’s really good about it. He was so excited when he got to choose a Spider-Man pattern for the brace. Every option he picked was Spider-Man. You’re meant to choose two different pattern options just in case one is unavailable, but he was adamant on Spider-Man! I said, “Sorry, Kate, you’re going to have to make this one happen!”

With support from Limbtex, a company part of the wider Eqwal Group, Kate was able to source exactly what Marley had his heart set on.

Marley's KAFO's and spinal brace help to support his posture, keep his spine straight, and prevent scoliosis, which is common in children with SMA. Rosie says, "We’ve heard he'll never walk, he’ll never stand, he’ll never do any of this. And we still don't know if he will ever do all these things, but with the support of his KAFOs, we can see him standing tall; that’s huge for us! He can also sit up on his own now, with his back brace, for about three minutes. It makes us really proud to see him grow and progress."

A New Chapter: Meadow’s Story

The family's whirlwind experience was intensified again when little sister Meadow arrived, bringing with her the uncertainty of whether she too would have the SMA gene mutation. Rosie says, "We knew it was a possibility, but hearing 'she has got SMA' still felt like our world was crashing down, again. Nothing prepares you for that." But because of Marley's previous diagnosis and stellar improvements in SMA diagnosis and treatment, Meadow received a newborn blood spot test straight away, with her results back in six days and treatment starting on day seven.

The Importance of Early Detection and Treatment of SMA

Marley and Meadow’s stories show two very different futures shaped by one crucial factor: early detection and treatment. Meadow, while still less than a year old, is thriving, hitting all her milestones - rolling, holding her head up, and has a strong grip. And Marley is thriving in his own way; his care team say they've never seen him so well! It is this early detection and treatment that can truly change the trajectory of a child's life.

As of March 2026, newborn blood spot screening for Spinal Muscular Atrophy is being introduced in Scotland and in England from October 2026 as an In-Service Evaluation (ISE), a welcome change for all those in the SMA community! For families facing SMA today, that progress offers something that wasn’t always possible - hope.

Download Marley and Meadow's Story