Established in 1985, Spinal Muscular Atrophy Support UK (formerly The Jennifer Trust for Spinal Muscular Atrophy) is a national charity providing information, support and advice to families and individuals affected by SMA and to professionals involved.

The condition is caused by abnormalities in the cells in the spinal cord that are responsible for sending muscle development signals from the brain to muscles. The abnormalities result in the muscles “atrophying”, i.e. they waste away, causing a range of disabilities, depending on the form inherited. There is no cure or effective treatment for SMA with 1 in every 6,400 babies being born with SMA each year. The prevalence of SMA is second only to cystic fibrosis. Although 1 in 40 people (1.5 million in the UK) are carriers, few have ever heard of SMA.

The most severe form, Type I, is the biggest cause of infant death resulting from a genetic condition and children can die before their first birthday. Children with Type II SMA often need round the clock care and are noticeably weaker than their peers. Their health can be extremely fragile and can deteriorate rapidly and they often die from respiratory infection. Many have problems eating and are severely underweight for their age, which compromises their health. A child’s muscles can be so weak that swallowing food the wrong way can be fatal.

Although there are some centres of expertise around the UK, many hospital staff have little knowledge or experience of SMA. The lack of knowledge can mean that a child’s life can be put in danger if they are admitted to hospital in an emergency. Parents of children with SMA are often reeling from the shock of the diagnosis and feel that there is no-one that they can turn to for help. Not surprisingly, many of them feel marginalised, alone and isolated.

Spinal Muscular Atrophy Support UK offers a range of services designed to support families coping with a new diagnosis. In addition, they fund research work into the genetics of Spinal Muscular Atrophy, in the hope that better knowledge will provide improved treatment of the condition and ultimately a cure.

The services that the Trust provide include the Spinal Muscular Atrophy Patient Registry which has been collecting the personal data of families from across the UK with SMA. They also provide an Outreach Service with visits made by highly qualified and trained staff to newly diagnosed families to offer advice about the condition, its management and local services.

Highly trained and experienced volunteers also arrange social events across the UK throughout the year so that families can meet others in a similar situation and share experiences. The events help to create local support networks and help to alleviate pressure families may be under.

In addition, the Trust provides SMA Information Days for those affected by SMA and the professionals working with them. They give opportunities to learn about SMA, current research, best management practice and the reality of life with SMA.

In many cases families with new diagnosis require financial support for items that are not covered by statutory bodies. The Trust makes a grant in these instances to assist with the purchase of items including Head Stones, adapted computers and specialist equipment. The Trust also provides specialist sensory toys for babies and have introduced a range of specialist car seats.

The Barbara Ward Children’s Foundation has funded their work since 2007. In late 2011 a grant was made to fund one of the outreach workers for 3 years. Securing the future of this post allows them to look forward and meet the ever increasing case loads of families desperate for help in these very difficult uncertain economic times.