"The first things I noticed is that he never pushed through his feet when I was holding him, he couldn’t hold his head up when laid on his stomach and he struggled rolling." She commented. Symptoms she now knows are commonly associated with SMA. But it would take a further six months from raising her concerns with the health visitor to get referred to the neuromuscular team at Leeds General Infirmary. Cai would undergo a range of different tests over the next two years before finally receiving a diagnosis of SMA Type 2, and treatment quickly began to preserve the muscle tone he still had remaining.
 

Early Signs and Diagnosis of SMA Type 2

Spinal Muscular Atrophy (SMA) is a rare, neuromuscular condition that causes progressive muscle wasting (atrophy) and weakness (SMAUK.org). In the UK, it is estimated that one baby born every four days will be affected by SMA. In the Summer of 2019, the first disease-modifying treatment for SMA types 1, 2, and 3 was made available for eligible patients, something Cai's family were keen to trial with the hopes of giving him the best quality of life possible. While the treatment cannot bring back any of the muscle tone lost prior to treatment, it can prevent further loss, and Cai's results have been incredibly positive!

Hannah says, "In a way, we were lucky. The week before his diagnosis, Spinraza was approved in England and became the first and only treatment at the time for SMA. He has done really well on the treatment and continues to amaze me each day. He's since begun the Resilient trial, which is an injection each week in a different part of his body, and again, the results have been great! The progress he has made may seem small to others, but things like being able to bend down in his powered wheelchair and being able to get something off the floor and get himself back up are huge for him."
 

Scoliosis and SMA: Managing Comfort and Fit

As a result of muscle atrophy in the back, it is common for children with SMA to develop scoliosis. Working in collaboration with the multidisciplinary team at Leeds Teaching Hospitals, Steeper Orthotist Kate Chauhan was able to provide Cai with a spinal brace to improve his day-to-day comfort and prevent his spinal curve from developing further in the lead up to his inevitable surgery. Kate says, "Treatment for SMA continues to improve. What we're trying to do now for all kids with SMA is to start bracing earlier, rather than waiting for a curve to develop in the spine. This way, it becomes a part of their routine and will hopefully prevent severe cases of scoliosis.

Cai has trialled different spinal braces and scanning methods, with the most recent being our new vacuum forming bean bag scanner. This machine is much more comfortable for patients, especially those who can't stand, and is very accurate. From there, our factory manufactures the bespoke spinal brace by hand, and the results have been fantastic. The braces are well-fitting and a lot more comfortable. It's been a game changer."