Couple told their daughter would need a wheelchair by the age of three say she is “still standing” thanks to miracle injections costing £64,000 each

·5-min read

A couple facing the devastating prognosis that their daughter would be in a wheelchair by the age of three say she is “still standing” thanks to the NHS – who are funding her four monthly “miracle” injections, costing £64,000 each.

Concerned when their daughter Anouk, three, stopped reaching her milestones at 18 months, back in September 2019, Sophie Howes, 33, who works for a sculptor, and her husband Mike, 34, who runs a technology business, sought medical help.

Diagnosed with spinal muscular atrophy (SMA) – a rare genetic condition that makes the muscles weaker and causes problems with movement – a month later, they were told she would likely need a wheelchair by the time she was three.

Anouk receives the Spinraza drug once every four months. (Collect/PA Real Life)
Anouk receives the Spinraza drug once every four months. (Collect/PA Real Life)

South Wiltshire-based Sophie explained: “When she was diagnosed with SMA we were devastated, but thanks to the incredible treatment she has received, Anouk is defying the odds.”

The couple’s nightmare began back in September 2019, when they noticed their daughter, then aged 18 months, was not bending her knees while walking with a walker.

Sophie said: “I lost my waters 18 weeks into my pregnancy with Anouk, so, after that, we were watched by staff at Oxford’s John Radcliffe Hospital until I had her by emergency C-section at 34 weeks on March 4, 2018.”

The family have now set up a charity to support other children with the same condition. (Collect/PA Real Life)
The family have now set up a charity to support other children with the same condition. (Collect/PA Real Life)

She added: “So, she was premature and, once she was discharged, we had to take her to the Nuffield Orthopaedic Centre in Oxford to have her hips checked.”

Noticing that the joints were not aligned, doctors fitted her with a harness to wear for 12 weeks.

Sophie said: “When the harness came off, she started hitting every milestone up until she reached 18 months.”

She added: “She was walking with a walker, which is normal at that age, but she was walking with her legs straight rather than bending her knees.”

Returning to the Nuffield Orthopaedic Centre, Anouk was sent to the neurology department at John Radcliffe.

She said: “It was just so we could eliminate any neurological issue. She had nerve tests on her legs, which was excruciatingly painful.”

The lifesaving treatment costs around £64,000 for each injection. (Collect/PA Real Life)
The lifesaving treatment costs around £64,000 for each injection. (Collect/PA Real Life)

Two weeks later, Sophie and Mike were called back to the hospital for Anouk’s results.

Sophie said: “She was diagnosed with Type 2, borderline Type 3, Spinal Muscular Atrophy in October 2019.

“Even though we knew something wasn’t right, the diagnosis was still a shock.”

Anouk is defying the odds. (Collect/PA Real Life)
Anouk is defying the odds. (Collect/PA Real Life)

She added: “Doctors warned us that she would likely be in an electric wheelchair by the time she was three, which was devastating news.”

Starting treatment a month later with injections of the drug Spinraza – each costing around £64,000 – into her spine once every four months, it has “worked miracles.”.

Sophie said: “She’s had eight injections now and we can already see the improvements.”

She added: “Each injection that she has costs around £64,000 and we’re incredibly grateful that it’s covered by the NHS.

“The best part is that she has defied expectations and is still walking, all thanks to the effective treatment.”

The couple say a combination of the medication and physiotherapy have been vital in strengthening Anouk’s motor abilities.

Anouk stopped hitting her milestones at 18 months. (Collect/PA Real Life)
Anouk stopped hitting her milestones at 18 months. (Collect/PA Real Life)

And they have now launched a charity, ACE SMA, to raise awareness of the importance of physiotherapy for children with this debilitating condition.

Sophie said: “Exercise is incredibly important in maintaining your child’s motor functions.

“Before we had Anouk, we didn’t know what SMA was, and when she was born, we not only had to face the impact the disease could have, we also had to navigate the treatment she needed to enhance her daily life.”

Sophie and Mike were warned by doctors that Anouk could be in a wheelchair by three years old. (Collect/PA Real Life)
Sophie and Mike were warned by doctors that Anouk could be in a wheelchair by three years old. (Collect/PA Real Life)

She added: “We set up ACE SMA primarily to raise awareness for other parents who may experience the same situation, but also to support new research into innovative ways to support people living with SMA.

“The support we’ve had so far has been fantastic, but now we’re hoping to launch a fundraiser too, to raise money for more SMA research.”

Mike told how ACE SMA is hoping to raise an initial £250,000 to fund a ground-breaking research programme run by the University of Oxford’s MDUK Oxford Neuromuscular Centre, into the benefits of physiotherapy rehabilitation for children with SMA.

He said: “Our aim is to spread the word about SMA and help as many children as we can.

“When Anouk was first diagnosed, we were told she would be in an electric wheelchair by the time she was three.

“Then NICE approved the drug and the prognosis changed to, ‘She will walk around, but she will still need a wheelchair when she’s going to places like school.’”

Anouk is still walking thanks to her NHS treatment. (Collect/PA Real Life)
Anouk is still walking thanks to her NHS treatment. (Collect/PA Real Life)

He added: “Since starting the treatment, she’s come on in leaps and bounds and we’re so grateful to the NHS for everything they’ve done.

“At the end of the day, when she was initially diagnosed, I went from wanting her to be active and sporty to my main hope being that one day she will be able to live independently.

“There’s a grieving process for the life that you had envisioned for your child and the reality of what she can’t do.”

Dr Laurent Servais, Professor of Paediatric Neuromuscular Diseases at MDUK Oxford Neuromuscular Centre, is a big supporter of the ACE SMA research programme.

He said: “Every five days in the UK, a baby is born with Spinal Muscular Atrophy which, if untreated, can lead to complex disability and, at its most severe, death.

“Research programmes like this one will allow us to provide better opportunities for rehabilitation for those living with SMA and ultimately, deliver better outcomes for children and their families.”

For more information, visit: www.acesma.co.uk

Our goal is to create a safe and engaging place for users to connect over interests and passions. In order to improve our community experience, we are temporarily suspending article commenting