About SMA (Spinal Muscular Atrophy) type 1

Note - This information is taken from the Jennifer Trust website. The Jennifer Trust is the leading UK charity supporting people who live with Spinal Muscular Atrophy and its effects. Click on this highlighted text to view their website

The effects of SMA Type 1 (also known as Werdnig-Hoffman disease) are seen within the first six months of life, and can affect babies even before birth. This is the most severe form of SMA. Mothers frequently remember that their baby had become less active towards the end of pregnancy.

Within a few weeks or months of birth, babies are limp and floppy because most of their voluntary muscles are affected. This means that babies are unable to lift their heads, have difficulty rolling over and are unable to sit unsupported.

Muscles used for sucking and swallowing can also be affected and may cause difficulty when feeding. These problems can, to some extent, be overcome and most babies are still able to make the most of their limited abilities. It must be remembered that the brain is unaffected and babies affected by SMA are often bright, alert and responsive.

However, it is usually difficulties with breathing, coughing and susceptibility to respiratory viruses and infections which make it unlikely that babies suffering from SMA Type 1 will live to see their first birthday. Many parents are informed at the time of diagnosis that babies with SMA Type 1 can live up to two years old (which is medically correct). This, however, is exceptional. The majority of babies (approximately 80%) die in the first year of life.

At present there is no known cure and no treatment that will repair the damage to the anterior horn cells, or reverse the weakening of the muscles. However there is a lot that can be done to support children diagnosed with this condition and their families, with the goal of achieving the maximum quality of life.

This pretty much sums up the official prognosis for SMA (type 1). However, it should be noted that each child is an individual, and with medical management there are examples of children with this condition living beyond a year. In America, the condition is more aggressively managed with tracheotomy - prolonging life expectancy, but preventing speech and making a child dependent on full time ventilation. See the 'Directions' article for our approach with Cariad.

Cariad is possibly one of only a handful of children in the UK to 'just keep swimming'. At 9 years old she has achieved many things that, at one time or another, she was told she wouldn't be able to do. She is now learning how to use a powered wheelchair (Lord help us all!) and has an eye control computer that helps her access the internet, write messages and, probably most importantly to her, play games and shop!