Bristol mum calls for newborn heel prick test to include life-saving SMA screening
Amy Moffat is joining calls from Little Mix star Jesy Nelson
A Bristol mother has urged for spinal muscular atrophy type 1 (SMA type 1) to be included in the newborn heel prick test, which could transform lives with early detection.
37-year-old Amy Moffat lives in North Bristol and is mum to four-year-old Oakley, who has SMA type 1, a rare neurological and muscle-wasting condition.
Amy said: “For the cost of a heel prick test, a child wouldn’t have to go through what they do on a daily basis and would go on and live a healthy life, without the need for major interventions.”
Amy explained that introducing the screening at birth would allow children with SMA to receive vital therapies sooner, improving their milestones and independence later in life.
The impact of early treatment
There is still no cure for SMA, but very specific therapies can help manage the condition and improve outcomes drastically.
Amy’s son Oakley received Zolgensma gene therapy when he was just 14 weeks old.
Since then, rigorous physiotherapy and orthotic equipment has allowed Oakley to make remarkable progress.
Amy said his achievements demonstrate “what true resilience and determination are all about.”
Though Oakley uses a wheelchair and requires full-time care, advancements in managing SMA have drastically improved outcomes for children.
If Oakley was screened at birth, he would have received treatment sooner, and Amy believes he could have lived a life like his peers.
"Me giving up work and having to adapt our home for him, changing our living room into a physio-studio, - none of that would have had to happen if he was screened at birth.
"A lifetime of surgery and care doesn't have to happen,"
Support for SMA families
Amy also shared a heartfelt message for Jesy Nelson of Little Mix, whose twins were recently diagnosed with SMA.
“The entire SMA community feels great empathy for Jesy,” Amy said. “Among the grief, the shock, the tears and the sadness, as I say to all the SMA Mummies, look for those glimmers.”
Amy emphasized the importance of cherishing special moments and staying connected to other parents who can support and guide each other through the experience.
“SMA may be rare, but rare is still many,” Amy said, calling on decision-makers to prioritize SMA testing to save lives and alleviate suffering.
Department of Health statement
Responding to calls for SMA testing to be included in the heel prick test, a Department of Health and Social Care spokesperson said:
“Our hearts go out to Ophelia-May and her family, and to all those affected by spinal muscular atrophy (SMA). We are grateful to all those who have campaigned tirelessly on this issue, including SMA UK and the many families who have shared their experiences over the years. We have heard their concerns and understand their frustration.
“The UK National Screening Committee has recommended a large-scale study into newborn screening, and a call for research is now live. As part of a trial in the NHS, hundreds of thousands of babies will be screened for SMA.
“There are also now more treatments available for SMA than ever before, making early detection more important than it has ever been. We are determined to ensure families get the support and diagnoses they need as quickly as possible.”