Eli’s story: Spinal Muscular Atrophy, mini golf, and winning swimming medals!

Say hi to Eli – and if you know the name of Harry Potter’s owl and how to build the perfect Lego tower then you’ll get along just fine.

Eli’s mum, Emily said: “Anything building related seems to be a hit with him. Eli loves Lego and Harry Potter, he’s currently saving his money to get himself the Lego Hogwarts set which is 6000+ pieces! He spends a lot of time playing Minecraft too.

“He’s just started Year 3 and recently took up keyboard lessons in school which is quickly becoming a keen interest. He practices at his grandparent’s house when he goes there and loves showing off the new notes he’s learned!”

If you’re wondering whether Eli looks a bit familiar, well we’ve actually met him before, back in 2021. This was not too long after he had been diagnosed with Spinal Muscular Atrophy (SMA) Type 2 after a genetics investigation. This followed an earlier diagnosis of Spina Bifida – which is when a baby’s spine and spinal cord does not develop properly in the womb, causing a gap in the spine.

SMA is a neuromuscular condition which causes progressive muscle wasting and weakness, leading to loss of movement. This means that children may be able to sit up without help, but not stand or walk, depending on the severity of their condition. Type 2 means that the effects are less severe than those who have type 1 SMA. Children with type 2 SMA usually show symptoms when they’re seven to 18 months old.

Elijah travels to Sheffield Children’s from Leicester every 16 weeks and is under the care of our multidisciplinary Neuromuscular Clinic for treatment with Nusinersen – an antisense drug designed to delay the muscle wastage by fixing the splicing error in the SMN2 gene.

Soon after Eli’s Spina Bifida diagnosis, he and his family started swimming to help him build up strength in his arms and legs, and increase his stamina. Eli was then encouraged to continue after his second diagnosis.

Emily said: “He then started swimming lessons with a teacher just after he was diagnosed with SMA when he was four and since then has been incredibly motivated to work through the stages and swims at least twice a week.

“Eli always feels a lot more confident when he’s swimming because once he’s in the water he looks the same as any other child. He’s used swimming as a way to make friends and socialise, and it’s been a great way of helping him understand that his disability doesn’t need to be seen as a hindrance, especially now that he’s reaching an age where he is becoming occasionally frustrated with being disabled.

“He’s also recently started enjoying mini golf too, which definitely brings out his competitive side. He plays in his wheelchair and it’s definitely becoming a firm favourite!”

Finding accessible places for Eli has been a challenge for Emily, who would like to see more done to include children with disabilities. Especially after one trip to a play area ended in tears after she had to explain to Eli that it wasn’t accessible for him.

She said: “Having seen the heart-breaking effect that exclusion has had on Eli previously, seeing more places being better adapted is definitely a positive. However there’s a lot of work still to be done.

“Plenty of places still see accessibility as an inconvenience rather than a necessity, failing to recognise the huge impact inclusion can have. Children with disabilities deserve to feel included and have access to the same activities as anybody else and if inclusion became the norm, it is possible that disability would no longer be seen as a rarity.

“Seeing Eli join in with activities that may not have been accessible just a few years ago, such as mini golf and bowling, is wonderful – he can play with his peers and just enjoy being a child. We just hope that more places realise that this inclusivity is beneficial and follow suit!”

Eli’s care at Sheffield Children’s

These days, Eli still visits Sheffield Children’s every 16 weeks for his Nusinersen treatment, a medication which is injected directly into the cerebrospinal fluid through a lumbar puncture.

Emily said: “This treatment will be a lifelong one so Sheffield Children’s will likely be stuck with us for a good few years to come! The treatment is making a huge difference to Eli. Whilst it’s not a cure for Spinal Muscular Atrophy, the treatment fixes splicing errors in the SMN2 gene so we’ve noticed improvements in his motor skills and energy levels.”

As well as the Nusinersen treatment, Eli and Emily also visit Ryegate Children’s Centre a few times each year for meetings with Eli’s neuromuscular team, physiotherapy assessments, and orthotics appointments.

“Sheffield Children’s and its staff have been absolutely incredible; we’re extremely lucky to have an amazing team working to help Eli, and every person we’ve come across has been so lovely. The nurses in the Theatre Admissions Unit (TAU) who help Eli before and after his treatment are always so calm and happy, they always manage to keep their cool when Eli is worrying about anaesthetic. The porters somehow manage to make me smile even when I’m feeling anxious walking Eli down to Theatre, and the anaesthetists make the whole procedure seem a lot less overwhelming. The nurses in recovery always make sure Eli gets a certificate to add his collection and the teamwork between departments makes everything run smoothly and makes a difficult day a lot easier.”

Eli is under the care of Dr Mark Atherton and our multidisciplinary Neuromuscular Clinic, which was set up more than 20 years ago to provide care for children with disorders of nerves and muscles, and related conditions. In addition to this specialist care for SMA the team provide care and support to children and their families with a range of disorders of nerves, muscles and related conditions. This is why, even though Eli lives in Leicester, he travels to Sheffield Children’s for treatment.

Emily added: “They make the journey to Sheffield so worth it. Eli is comfortable with each member of the team and the care they provide Eli with has massively improved his quality of life. We appreciate the incredible work they do and the individualised treatment they give, it makes the whole experience a lot less daunting.

“The different sites we visit are always clean with lots to do to keep Eli distracted when needed. He got to try the new VR headset during his most recent treatment to help calm him, which was greatly received. Appointments are always well organised too – the team based at Ryegate are amazing for making sure they put things on the same day to save us extra trips!”