… I bet you have never even heard of it – if you are lucky – and yet it is estimated that 1 in 40 of us are carriers of this neuromuscular disease.

 

It is caused by what is known as a “recessive genetic fault”. Genes come in pairs. If both parents of a baby are carriers, there are three possible outcomes. The best, which happens when the baby inherits a “good” gene from each parent, means that it won’t be affected or even a carrier. The second occurs when the baby inherits one “good” gene from one parent and a “bad” one from its other parent and means it won’t suffer the disease itself but will be a carrier – just as its parents are. The third, devastating possibility is that the child inherits two “bad” genes – one from each parent – and is born with spinal muscular atrophy. In other words, the odds are: 1 in 4 that the child will not have SMA or be a carrier; 2 in 4 of it not having SMA but being a carrier, like its parents; and 1 in 4 that it will be born with SMA – as Jai was.

 

The effect of this disease is that although messages get from the body to the brain, in other words there is full sensation, messages going the other way, from the brain to the muscles are interrupted, leaving them weak, very weak or virtually useless, depending on the severity of that child’s condition. Some are born already so badly affected that they can’t even swallow or breathe properly and may only live for a few days or weeks. This is, perhaps, why you may not have heard of SMA – simply because many children don’t survive long enough to be noticed.

 

Jai was born with the most severe form of SMA and yet somehow managed to battle through many bouts of pneumonia and live until the age of 8. Other children are less badly affected and there is even an adult-onset version of the disease. These bright children and their families need a huge amount of love and support, which is where the charity SMAUK comes in …