Without the past, there is no future. 

By Giles Lomax, CEO and Portia Thorman, Head of Advocacy and Community.  

Recent progress on newborn screening for spinal muscular atrophy is a landmark moment for future families affected by SMA. For both of us, as leaders at SMA UK and as parents of children living with SMA, it is also deeply personal. 

We want to say a heartfelt thank you to everyone who has played a part in moving access to newborn screening forward: the researchers who have built the evidence base; the clinicians and laboratory teams who have helped shape safe and workable pathways; the families who have shared deeply personal stories; the adults living with SMA who have brought vital insight and perspective; the advocates across the SMA community; our partners across neuromuscular and rare disease organisations; and the UK SMA Newborn Screening Alliance. 

Years of work, evidence and lived experience
The progress we are seeing now did not happen overnight. For more than a decade, people across the SMA community have made the case for newborn screening: contributing to research, engaging with the UK National Screening Committee, supporting the planning of an in-service evaluation, briefing decision-makers, speaking to the media and explaining, again and again, why early diagnosis matters. We have seen first hand how much patience, determination and emotional energy this has taken. 

Researchers and clinicians have helped answer complex questions about testing, treatment, clinical pathways and long-term outcomes. Patient organisations and rare disease umbrella bodies have worked together to keep newborn screening on the agenda and to press for fairer, faster access to diagnosis. Families have given their time, their testimony and their trust, often returning to painful memories which we have felt personally, in the hope that future families might be spared the same delay. 

We also want to recognise the huge amount of work that has gone into securing access to treatments for SMA. Those advances have changed what is possible for many children and families. Newborn screening is the last piece of that puzzle, and, arguably, it should have been the first. Because the full potential of treatment depends on babies being identified as early as possible, before symptoms appear. 

Recognising Jesy Nelson’s role
We also want to recognise the important role Jesy Nelson has played in bringing greater public attention to the need for newborn screening for SMA. When Jesy joined the campaign in January, the UK National Screening Committee had already recommended that an in-service evaluation should take place however the timescales were not clear. The foundations had been laid by many years of research, clinical work and community advocacy. 

It is also important to be clear that, although SMA UK was involved in the Amazon documentary, we have not received significant funding as a result of the documentary or Jesy’s involvement in the campaign. Securing funding was never the purpose of our participation. Our focus has always been on improving outcomes for everyone affected by SMA and securing newborn screening for all babies.

Jesy’s campaign added something powerful to that existing movement: awareness, strength and, most importantly, speed. Her story forced direct political engagement never seen before in the rare disease space. Her willingness to speak publicly following her daughters’ diagnosis helped bring the issue to a much wider audience, encouraged more people to act through the petition and added urgency to the call for all babies to have the opportunity of early diagnosis. 

The emotional cost of public campaigning
Alongside gratitude and hope, we also need to acknowledge the emotional toll that this very public campaign, with significant media attention, has brought to the existing SMA community. For many parents, the coverage has taken us back to diagnosis day: to the shock, fear, uncertainty and grief of learning that our children had SMA before newborn screening was available. 

Families have worked hard to move from that devastating early space into a more positive mindset. They are living full, loving and meaningful lives with children who have a wide variety of complex needs, and who are happy, fulfilled and deeply valued. Seeing repeated negative narratives portrayed by the media has been difficult for many people who know that SMA is not only a story of loss, but also one of love, adaptation, resilience, joy and possibility. 

We are also thinking of the families who have lost someone they love to SMA, some of whom have bravely contributed their own personal stories to this campaign. For them, the headlines and public conversations may have reopened grief in ways that are hard to describe, bringing back memories, questions and painful reminders of what might have been different if newborn screening and early treatment had been available sooner. Their loved ones are part of this story too, and their grief deserves to be held with care. 

We recognise that the campaign helped speed up progress. We also recognise that part of the cost of that acceleration has been carried emotionally by families whose children did not have access to newborn screening. Our stories, our pain and our children’s lives should never be reduced to headlines. They deserve respect, sensitivity and acknowledgement. 

Listening to adults living with SMA
Adults living with SMA have provided valuable insight throughout the long journey towards treatments for SMA and newborn screening. They have helped explain the realities of living with SMA across a lifetime, the importance of choice, dignity and independence, and the need for policy discussions to reflect the full diversity of the SMA community. 

We also recognise that, because this campaign has focused on newborn screening, adults living with SMA may at times have felt less visible in the public conversation. That can be difficult. Their experience, expertise and leadership remain integral to SMA UK’s work, and we are committed to ensuring that advocacy for future babies does not diminish the lives, successes, needs or priorities of people already living with SMA today. 

Looking ahead with gratitude and care
As we look ahead, we do so with enormous gratitude. Thank you to every family who has spoken out. Thank you to every researcher, clinician, policy expert, laboratory professional, charity partner, rare disease advocate and supporter who has helped build the evidence and momentum for change. Thank you to the UK SMA Newborn Screening Alliance and to the wider community who have kept going, even when progress felt too slow. 

It is important to remember that this remains an In-Service Evaluation (ISE) and it has not yet formally commenced. While reaching this stage is a significant milestone on the pathway towards a permanent recommendation, there is still considerable work to be completed before that outcome can be achieved. Maintaining momentum and ensuring the government meet agreed timelines will be critical to the success of the programme. In addition, Wales and Northern Ireland have not yet committed to participating in the ISE, meaning further engagement and collaboration will be required to ensure equitable access and representation across all nations of the UK, a true conclusion to the postcode lottery.  

This milestone should therefore be viewed as an important step forward, rather than the final destination, on the journey towards a permanent recommendation. 

Newborn screening for SMA will change the future for babies and families. It will not change the past for those of us who did not have access to it. Both truths matter. At SMA UK, we will continue to campaign for NBS across the UK, while also standing alongside children, adults and families living with SMA now, in all their complexity, strength and fullness of life.