Demelza stands by SMAUK and advocates for Spinal Muscular Atrophy to be added to newborn screening programme

At Demelza, we have been supporting children with SMA and their families for over 27 years. A progressive genetic condition, SMA Type 1 affects a child’s ability to move, walk, swallow and breathe and prior to gene therapy treatment becoming available through the NHS in 2021, children rarely lived past two years old.

This treatment can slow down or even stop the progression of the disease, significantly increasing life expectancy and even enabling some to walk independently. Whilst it is likely many of these children will still have complex medical conditions, their prognosis and quality of life is vastly improved.

However, the treatment cannot reverse any damage already caused, so it’s vital to start as early as possible. This is why Jesy has been told her children are unlikely to ever be able to walk, because at seven months old, those muscles have already been irreversibly damaged.

At Demelza, we stand by our colleagues at SMAUK and advocate for SMA to be added to the ten rare, but serious conditions tested for in the newborn screening programme (heel prick test taken at five days old).

Diagnosing and treating SMA1 within the first few weeks of a child’s life, before the disease progresses and the muscles become weaker, will not only improve life expectancy, but it could also give a quality of life that every child deserves.

It could mean less parents like Jesy have to mourn the life they thought their child would have.

As a local children’s hospice, we are grateful to Jesy for sharing her journey and raising awareness and we hope that her family receives the care and support they need.

Dave Winch – Demelza’s Deputy Director of Nursing