Bristol Mum calling for heel prick tests for newborns for neurological condition SMA1

A Bristol mother is calling for the neurological condition SMA to be included in the heel prick test for newborns.

Little Mix’s Jesy Nelson made the same plea recently after her own twins were diagnosed with the condition.

Amy Moffat, 37, who lives in North Bristol, said: ‘For the cost of a £4 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. We know having screening at birth would mean children no longer have to suffer and will go on to meet major milestones like their peers. It’s as simple as that.

‘SMA may be rare, but rare is still many and we have to stop allowing decision makers to not bring SMA into new born screening knowing what happens if we don’t. These decision makers have known for years how much a simple test would save lives. It’s a question of ethics in my view.’

‘The entire SMA community feels great empathy for Jesy. I would like to say to her, among the grief, the shock, the tears and the sadness, as I say to all the SMA Mummies, look for those glimmers.

Four-year-old Oakley Moffatt has the rare genetic condition spinal muscular atrophy type 1 (SMA type 1).

He was treated with the Zolgensma single dose of gene therapy at 14 weeks old. Before this drug was made available, children with this muscle wasting condition typically would not survive for more than two years.

There is still no cure for SMA, but very specific therapies can help manage the condition and improve outcomes drastically. This has been a huge leap for the NHS and many crucial pieces of equipment are provided. However, families have to fundraise to cover essential ongoing regular specialist physiotherapy and for key newly developed orthotic equipment through private specialists.

Oakley is a wheelchair-user and will always need full time care and assistance with mobility, but thanks to many hours of rigourous physiotherapy his capabilities have progressed enormously over the past two years. With his mum Amy as full-time carer, ongoing financial support is critical for the best chance of greater independence in the future.

Dad Nick Moffatt, 43, said: ‘Oakley has a fun and warm personality, he is very bright, communicative, clearly loves life and engages in fun activities and learning every single day. He is thriving thanks to the support he receives, and we are confident he could go on to attain greater independence and give a lot back to society.’

‘For him to continue to progress, we need further support financially to help Oakley reach his ultimate ability. We’re also certainly saving the NHS money in the long run as the more we support these kids now the less in-person assistance and surgeries they’ll need later.

‘2026 fundraising priorities are for Oakley’s continued private physiotherapy which costs around £15,000 per year, and specialised orthotics which need to be changed as he grows at around £9,000 per year. This should increase his quality of life and increase independence, reduce likelihood of or severity of future operations on his hips, spine, and decrease chances of future skeletal pain.’

Oakley’s family is being supported by children’s charity Tree of Hope which helps families fundraise for children like Oakley with healthcare needs which cannot be provided by the NHS and provides charity status to benefit from gift aid, corporate support while also providing donor reassurance.