Spinal Muscular Atrophy:UK 'way behind' on newborn screening

Mr Lomax, 35, said: "Although they are Type 2, which is the lesser of the severe ones, my daughter can walk about 10 metres and has a slightly unusual gait.

"My son is a full-time wheelchair user, but he can stand and he can cruise around furniture.

"They were treated around 15 months old, but if they were identified at birth they would have been given a disease-modifying treatment and, potentially, would have had no symptoms at all."

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SMA causes the nerves in the spinal cord, which transmit messages from the brain to the muscles, to deteriorate over time.

In the most serious cases, SMA causes problems with breathing, speaking, walking, and swallowing which become progressively worse.

In most infants, warning signs only emerge when they begin to miss key developmental milestones such as failing to crawl or sit up.

The genetic condition affects around 1,500 people in the UK and roughly 70 of the 675,000 babies born each year will have some form of SMA.

A majority - around 60% - will have Type 1, the most severe kind which once limited life expectancy to just two years of age.

Today, there are a range of new drugs available on the NHS including a gene therapy, Zolgensma, which uses a one-off injection to replace the faulty gene with a healthy copy.

If administered early enough - before the onset of symptoms - sufferers can go on to live a normal life.

However, in most cases it is detected to late for treatment to be fully effective.

Other patients - including those with types 2, 3 and 4 - can be prescribed Spinraza, a medicine injected into the spine every few months or Evrysdi, given as a liquid once a day.

Both reduce symptoms by targeting a back-up copy of the defective gene, but are more effective the earlier patients receive treatment.

Finn and Zara were diagnosed with SMA at around 15 months of age, but the condition could have been detected and treated much earlier with newborn screening (Image: Gordon Terris/Herald&Times)

Campaigners are pushing for an end to such delays by adding SMA to the list of rare genetic conditions routinely screened for in the "heel-prick" blood test offered to all newborns.

SMA testing is already included as part of newborn screening throughout in the United States and half of EU member states, as well as in countries such as Turkey and Russia.

Ukraine introduced it in 2023, despite the ongoing war, and on Thursday Switzerland became the latest country to add the test to its screening programme, with Ireland, Luxembourg, Slovakia and Greece already in the process of incorporating it. 

In the UK, however, it remains unavailable pending ongoing investigations commissioned by the UK National Screening Committee.

Mr Lomax, who lives with his wife Becky and their three children on the outskirts of Edinburgh and was appointed CEO of the charity SMA UK in May last year, said: "The UK is way behind - absolutely way behind. It's basically anathema that we are not at a point to have these babies screened at birth.

"We know there is a solution through these disease-modifying treatments, and there's already an existing blood spot programme that's very robust. All we want is to add on the test for SMA.

"Children born with SMA Type 1 live with very complex needs - respiratory issues, spinal issues.

"They cannot crawl or walk. They're full time wheelchair users. They face significant challenges within their lives.

"In natural history, a Type 1 child would likely die by the time they were two, but we have examples recently where a Type 1 child has been given treatment pre-symptomatically, in the first few weeks of life, and they have no symptoms whatsoever.

"They're growing up to have essentially normal lives."

The UK currently screens newborns for nine rare condition through blood spot testing soon after birth (Image: Getty)

Newborn screening - better known as the "heel-prick" test - analyses a few drops of blood extracted from an infant's foot at around five days old.

The programme began in the UK in the late 1950s when all newborns were offered a routine test for phenylketonuria (PKU), a rare metabolic disorder which can lead to brain damage unless treated early.

Since then, it has expanded to cover nine rare but serious health conditions, including sickle cell disease and cystic fibrosis.

In March 2023, the UK Screening Committee recommended that Type 1 tyrosinaemia - a rare metabolic disorder which can lead to liver failure - be added to the regime.

The committee last reviewed - and rejected - the evidence for SMA screening in March 2018, prior to Zolgensma being approved for use on the NHS in 2021 and at a time when it said that the long-term effects of Spinraza were "unknown".

Since July 2019, Spinraza has been available to all Type 1 children and on a three-year prescription - pending further studies - for children with types 2 and 3.

Mr Lomax said: "It's six years, pretty much to the day, since the UK Screening Committee rejected calls for SMA to be included in the heel-prick test. The disease modifying treatments were very new at that point, so there wasn't enough data.

"Since that date 342 children have been born with SMA and, if you apply the 60% figure, that's 205 children born with SMA Type 1 who would have been identified at newborn screening but now live with a variety of complex needs and issues.

"That clock is ticking every day.

"There's a huge - massive - opportunity to transform the lives and outcomes for many through newborn screening.

"It's too late for my kids in terms of diagnosing in the first few weeks of life, but there is an opportunity to make a real change for the future.

"It's not a fairytale. We actually have a solution now that any child who is born in the future, and their families, their parents, will not have to experience what we have, and that really fuels me."

SNP MSP, Bob Doris, who is convener of Holyrood's cross party group on rare, generic and undiagnosed conditions, has backed the campaign for SMA screening (Image: Colin Mearns/Herald&Times)

In late 2022, the UK Screening Committee commissioned researchers at the University of Sheffield to carry out an "in-depth analysis of the evidence" for SMA screening using modelling and pilot studies.

The work is ongoing and the UK Government says that, once completed, this evaluation "will inform the final UK NSC recommendation to ministers in all four UK countries on whether to recommend that SMA should be added to the UK’s newborn blood spot screening programmes".

Bob Doris, who hosted Mr Lomax and other medical experts a special event at the Scottish Parliament on March 5 to raise awareness of SMA and newborn screening, said he supports the campaign.

Mr Doris, an SNP MSP and convener of Holyrood's cross party group on rare, generic and undiagnosed conditions, said he would be raising the issue in the Scottish Parliament in the coming days and making the case for Scotland to be included in any UK-run pilot screening programmes.

He added:  "Hearing first-hand about the experience of Giles and his family was very powerful.

"Their story demonstrates exactly why Scotland and the UK need to include testing for Spinal Muscular Atrophy within its newborn baby screening programme. 

"It is clear that every moment counts. Early diagnosis and treatment can have transformational benefits for both babies and their families.

"Through the Scottish Medicines Consortium, Scotland has already invested heavily in groundbreaking treatments for babies diagnosed with SMA.

"However to get the full  life changing benefits of those treatments, there must be early diagnosis and treatment."

Public Health Minister Jenni Minto said: “I recognise the urgency families in Scotland feel around this issue.

"For those affected, spinal muscular atrophy can be devastating, and I share the desire for any action that would prevent that.

“The UK National Screening Committee is best placed to evaluate all the evidence, and I welcome the in-service evaluation (ISE) that NHS England are carrying out.

"I hope that it will bring us closer to a decision.”