Elijah’s story: Travelling to Sheffield Children’s for SMA treatment

Meet five year old Elijah, he lives in Leicestershire and travels up to Sheffield Children’s every 16 weeks for treatment.

In 2019, Elijah was diagnosed with Spinal Muscular Atrophy (SMA) Type 2 after a genetics investigation, following an earlier diagnosis of Spina Bifida – this 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.

Emily, Elijah’s mum, said: “The muscle wastage means Elijah uses a wheelchair to get around, but it can also impact the muscles needed for swallowing and breathing.

“After we received Elijah’s diagnosis, we were referred to Dr Ong and her amazing team at Ryegate Children’s Centre in Sheffield so Elijah could start Nusinersen treatment – an antisense drug designed to delay the muscle wastage by fixing the splicing error in the SMN2 gene.”

Our multidisciplinary Neuromuscular Clinic was set up more than 20 years ago to provide care for children with disorders of nerves and muscles, and related conditions. As well as SMA, the team provide care for Duchenne and Becker Muscular Dystrophy and Hereditary Sensory and Motor Neuropathy.

Elijah makes the trip to Sheffield Children’s with a parent every 16 weeks to have Nusinersen treatment, which is given through a lumbar puncture under local anaesthetic.

Emily added: “It’s a quick procedure and Elijah is usually back on the ward recovering (and eating) within 45 minutes!

“Sheffield Children’s are the closest centre to home that offer this treatment, but the time spent travelling is worth it!

“The staff have been brilliant and have made what seemed like an overly daunting experience a lot more relaxed and easier to deal with. Starting this treatment during COVID-19 means only one parent can bring Elijah for the treatment but the staff have made this a lot more bearable; they’re easy to speak to, supportive, and always smiling!”

Thank you for sharing your story with us Elijah.