Sam and Alex's story - Jeans for Genes

Sam and Alex's story

Nine-year-old identical twins Sam and Alex have the genetic disorder spinal muscular atrophy (SMA) type 2. It’s a neuromuscular genetic disorder that causes muscle weakness and progressive loss of movement, and means the boys have limited physical strength. They are confined to wheelchairs, and can’t pick up anything heavier than a small cup of water.

Sam and Alex were diagnosed at 18 months old, but their mum Sarah first suspected something might be wrong when they were just six months old. Holding the twins upright on her lap she noticed the boys were unable to bear any weight. Instead of putting their feet down the twins both bent their knees up.

Sarah and the twins’ father Ian were reassured that the delay was due to the boys’ prematurity – they were born seven weeks early. But by the time they were a year old they still couldn’t sit up unaided, although they were developing normally in other areas – smiling and making noises right on cue.

When they were 15 months old they were referred to a hospital paediatrician, and three months later they were diagnosed with SMA. It was devastating news.

‘We took it dreadfully. It felt like our lives had stopped but everyone else’s was still carrying on,’ Sarah remembers. ‘When the boys were very young I used to check they were still breathing at night. The disorder affects the intercostal muscles and means the boys can’t cough properly, so they have been hospitalised with pneumonia many times over the years. They have to be kept away from people with colds and infections.

‘The boys are now aged nine. They have never sat unsupported or stood or walked. But they can write, feed themselves and power themselves in electric wheelchairs.’
SMA is a progressive condition and the twins will most likely become weaker over the years. Intellectually they are completely on a par with their peers and have no delays to speech or academic ability.

Their local community is very accepting of Sam and Alex. They are well known in their village and get a lot of attention when they are out and about. The boys are in full-time mainstream schooling and are planning their careers.

‘We can show that people with SMA can have good jobs; they can drive around and live life to the full. Those are the positives I instil in my boys,’ says Sarah.