Today is Rare Disease Day, an annual event that aims to raise awareness of conditions affecting around 3.5 million people in the UK.
At Muscular Dystrophy UK, we bring families and professionals together to fight all muscle-wasting conditions, most of which are rare or ultra-rare. Through our campaigns work and by funding world-leading research, we aim to tackle delays to access to treatments, and we won’t stop until we find treatments and cures for all our conditions.
It’s an exciting time for research, with many medicines on the horizon. But we need to ensure that as those treatments emerge, patients can access them quickly. Among them is Spinraza – the first drug for the condition spinal muscular atrophy (SMA). Spinraza has been shown to be clinically effective in trials, and has helped some children to live longer, crawl and even walk. It is currently not available on the NHS in England, Wales and Northern Ireland.
What does Muscular Dystrophy UK think?
Spinraza is now available in 24 European countries, including Scotland. Access to the drug is dependent on where you live. Today, a child diagnosed with even the most severe form of the condition cannot access this treatment in England, Wales or Northern Ireland, yet could if they lived across the border in Scotland.
Muscular Dystrophy UK, along with Spinal Muscular Atrophy UK, is calling for NICE to approve the treatment for use on the NHS. NICE is next due to meet on Wednesday 6 March.
Rob Burley, Director of Campaigns, Care and Support at Muscular Dystrophy UK, says:
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. 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 babies with the most serious form of the condition are likely to die, while children with other types of spinal muscular atrophy 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 before any more lives are cut short.
Who else is supporting the campaign?
On Monday, we headed to Parliament for our MP drop-in about access to Spinraza. The event was organised in collaboration with SMA UK, which we continue to work closely with to influence the ongoing NICE appraisal process ahead of next week’s committee meeting.
Eleven families made the journey to Westminster to share their personal reasons for wanting access to this life-changing treatment, while almost 20 MPs came along to meet with the families and hear first-hand what the treatment means to them. Many of the MPs promised to lend their support to the campaign and write to NICE, NHS England and Biogen to ask them to find an urgent solution. A flyer was shared with all MPs who attended; please feel free to download it here and share with your MP as well.
MPs Mary Glindon, Lyn Brown and Eleanor Smith also recently raised the issue in Parliament.
What do families have to say?
Rachel Jamieson, mum to Matilda, four, who has SMA Type 3:
To know there is a treatment out there that could help Matilda and stop her [condition] deteriorating is so frustrating. Spinraza could stop the condition progressing and help Matilda not just to have a normal childhood, but to have that independence when she’s older, too.
Mark Wilson, dad to Aadi, three, who has SMA Type 2:
Aadi is a bright, funny, clever toddler, but his mobility has deteriorated, and that’s difficult to manage as parent. We see our friends’ children getting older and stronger, but our son doesn’t. It makes us value what we have now. We are a normal family looking for the best for our child. There is a treatment that could change our life, and that’s what we’re asking people to remember.
Paul Mercer, dad to Kennedy, six, who has SMA Type 1 and receives Spinraza through Biogen’s compassionate scheme:
I can’t talk highly enough about Spinraza. It has given Kennedy independence and improved life for her and the whole family. Now we can look to the future and continue to make memories with our little girl.
- If you would like information or support, please call our Information and Support Team on our free helpline: 0800 652 6352 (Mon-Fri, 8.30am-6pm) or email us at: email@example.com
- To find out how you can join our campaign, email Clare Lucas at: firstname.lastname@example.org. And if you would like to share your story, email Laura Burge at: email@example.com
- You can also find our factsheet on SMA here and our FAQs on Spinraza here.