Toby, 33 is a Project Manager at the BBC; Lauren, 23 is a Disability Officer for a charity for the homeless; Srin, 28 is a lawyer and tech entrepreneur; Martyn, 31 runs his own business and is changing attitudes to people with disabilities.

All of them are from different families and live in different parts of the UK. They all live in their own homes and employ personal assistants. Suzanne, 22, has completed a degree, drives her own car and is a Youth Support Worker. All of them have Spinal Muscular Atrophy (SMA) Type 2. Though this is a serious inherited neuromuscular condition that may shorten life expectancy, improvements in care standards mean that the majority of people can, like them, live long and fulfilling lives.

That’s not to say it’s an easy condition to manage. As they were growing up there were frequent hospital appointments with many different specialists. There were, and still can be, emergency admissions to hospital due to respiratory infections.  There were housing adaptations to accommodate their wheelchairs. Getting the right equipment, juggling appointments, looking after other siblings and maintaining the family income was a real challenge for their parents. It’s still a big challenge for parents today.

There are also other types of SMA. In Type 1, the most severe form, muscle weakness causes breathing difficulties and affects babies who, sadly, rarely survive their second birthday. For families, the shock of diagnosis and the grief is immense.

Spinal Muscular Atrophy Support UK provides information and support to anyone in the UK affected by SMA. We also work with other charities, clinicians and researchers to fund and raise awareness of the need for more spending on research. This includes how to better manage the symptoms of SMA, improve our understanding of the disease mechanisms and the testing of potential treatments.