The parents of a five-year-old who has a rare spinal condition are calling for a treatment that could help her to be made available on the NHS.
Elsie Novell form Sutton has spinal muscular atrophy Type 2 – a genetic condition that causes muscle weakness and can leave children with respiratory difficulties.
There is a treatment, called Spinraza, which her parents Charlotte and Chris believe could help her – but it is not currently available on the NHS in England.
Charlotte said: “We are constantly living in fear. We would give everything for Elsie to just enjoy being a normal five-year-old, to not get scared every time she catches a cold, to not dread the colder weather knowing the problems it can bring. Elsie misses out on so much; just last year, we had to cancel her birthday party because she came down with a chest infection.
“We have looked at all sorts of ways to help Elsie, including travelling to America or France, but it’s just too expensive.
"Spinraza is something that should be made available here, and it would mean a huge amount for Elsie to have it. But we won’t give up this fight, and we hope a decision can be made that meets the best interests of everyone with this condition.”
Charlotte and Chris, are joining charities Muscular Dystrophy UK and Spinal Muscular Atrophy UK in calling on The National Institute for Health and Care Excellence (NICE) to approve Spinraza when it meets on Wednesday,
In August last year, in draft guidance, NICE said it was "minded not to recommend the treatment for use on the NHS", but it has yet to make a final decision.
Rob Burley, Director of Campaigns, Care and Support at Muscular Dystrophy UK, said: “Spinraza offers families hope, but continued delays in making it available are causing heartbreak. It
is unthinkable that a child who is now diagnosed with the condition cannot access this treatment in England, yet could if they lived across the border in Scotland.”
Elsie was diagnosed with SMA Type 2 when she was 18 months old.
Charlotte said she knew something wasn’t right when Elsie was about 10 months old and lost the ability to bear her weight.
The family were later told that Elsie probably had a motor neurone disease, but she was later confirmed to have SMA Type 2.
Charlotte said: “Elsie is fairly strong physically compared to other children with the same form of the condition – she can, for example, still stand if she’d holding onto something and she can feed herself. However, Elsie has significant respiratory problems.
"In 2018, she was admitted to hospital twice with pneumonia. She has also had chest infections, and often requires assistance from a rapid response team.”
Spinraza is available in 24 European countries, including Scotland, and has shown in clinical trials to be effective, with some children learning to crawl, walk and stand.
The treatment has also helped infants with most severe form of the condition, Type 1, to live longer.
Rob Burley continued: “We have seen how effective Spinraza can be in treating people with spinal muscular atrophy, and it is families who suffer when delays happen.
“Time is of the essence, and without access to Spinraza children may irreversibly lose the ability to walk, crawl and swallow. Now more than ever, we need to see urgent action from NICE, Biogen and NHS England, who must sit down together to find a solution because time is running out.”
Doug Henderson, Managing Director of Spinal Muscular Atrophy UK, said: “Spinraza is the first treatment for spinal muscular atrophy and instead of being able to celebrate
this with the SMA community we find ourselves in England facing unacceptable delays with decisions about access – delays that anyone with SMA can ill-afford. Now, to make matters even worse, we have a scenario where, if you live in Scotland you can access the treatment, but not if you live over the border. This is not acceptable.
“NICE needs to do the right thing on March 6, follow Scotland’s lead, and recommend access this life-changing treatment for all with SMA Type 1, 2 and 3. Make rare diseases matter.”