NHS Accelerates Newborn Screening for Spinal Muscular Atrophy Following Celebrity Campaign
In a landmark decision, the NHS will begin testing newborns for spinal muscular atrophy (SMA), a devastating muscle-wasting disease, following intense lobbying by former Little Mix singer Jesy Nelson. Health Secretary Wes Streeting has brought forward the screening programme, which will now commence in October this year instead of January 2027.
Jesy Nelson's Personal Tragedy Drives Change
Jesy Nelson, whose ten-month-old twin daughters Ocean and Story were diagnosed with SMA too late for effective treatment, has been a vocal advocate for universal newborn screening. She described the announcement as "amazing" but "bittersweet," expressing heartbreak that her own children will never walk due to irreversible nerve damage.
"This is massive. Now there are potentially 404,000 babies who will be screened over the next 12 months," Nelson told the Mirror. "I just wish this had been here for my babies and for all the SMA babies who never got tested. That’s why I wanted to do this - I don’t want anyone to have to go through this heartbreak."
Phased Rollout and Ethical Concerns
The pilot programme will test an estimated 404,000 babies across England in a phased rollout. However, 163,000 newborns will remain untested to serve as a control group for comparison—a decision experts have branded "unethical." This means approximately 11 babies per year may still receive late diagnoses.
Nelson criticised the partial implementation, stating: "It's just bittersweet because we're not fully there yet. It's like literally a postcode lottery because it's not the whole of England. There'll be 163,000 babies that won't get screened - and that is a lot of babies."
Charity and Political Support
The announcement was confirmed to charity SMA UK during a meeting with Wes Streeting yesterday. Giles Lomax, chief executive of SMA UK, whose seven-year-old twins also have SMA, welcomed the move: "Following years of campaigning we are delighted to see the formal announcement that screening for SMA will start in six months time in England. This milestone will change the lives of so many diagnosed through the heel prick test."
In a letter to Nelson and Lomax, Streeting wrote: "It was great to meet you both. I really appreciated you sharing your personal experiences of raising children with SMA and applaud the work you have both done highlighting the issue and seeking earlier diagnosis."
Devolved Nations Lag Behind
While Scotland has decided to screen all newborns for SMA, Wales and Northern Ireland have not made similar commitments, leaving 47,000 babies annually untested. Streeting acknowledged the challenges, noting: "My officials are still working through the challenges related to extending the ISE to the whole of England and I will keep you both updated of progress in this area. As you know, I’d like to see a full rollout."
Understanding Spinal Muscular Atrophy
Spinal muscular atrophy is caused by a fault in the SMN1 gene, which leads to insufficient SMN protein production. This protein is crucial for maintaining nerve cells that transmit signals between the brain, spinal cord, and muscles. Without it, motor neurons die, causing muscles in the legs, chest, and arms to waste away.
Three treatments are currently approved on the NHS:
- Nusinersen (Spinraza): Injected into the spinal cord every four months to boost SMN protein production.
- Evrysdi: A daily liquid medication that increases SMN protein.
- Zolgensma: A one-off gene therapy infusion that delivers a healthy SMN1 gene copy.
However, these treatments are most effective when administered early, before irreversible nerve damage occurs.
Heel Prick Test and Global Context
The newborn screening involves a heel prick test at five days old, collecting blood drops to check for serious conditions. Currently, the UK tests for only ten out of 50 potential disorders, lagging behind many European nations. For instance, Italy screens for 48 conditions, Austria for 31, and Poland and Portugal for 29.
SMA screening is already implemented in 45 countries, including the United States and most of Europe. Ukraine introduced it even during wartime, highlighting the UK's outlier status.
Historical Delays and Future Hopes
The UK National Screening Committee initially rejected adding SMA to the newborn screening programme in 2018. Despite three major treatments becoming available on the NHS since 2019, the committee insisted on further studies, leading to the current "in-service evaluation" pilot.
Nelson reflected on meeting families where early treatment prevented symptoms: "It's life changing when you see it. You can't even see that they have any symptoms of SMA. If this gets rolled out in England this is now what all future SMA babies will look like. They won't look like my girls. They won't be in a wheelchair."
The Mirror's campaign since 2021 has been instrumental in raising awareness, with Nelson crediting the publication: "The support of the Mirror has been amazing. Without you guys as well there wouldn't be as much awareness about SMA."
