by Lucy Ashton
The local health board, NHS Greater Glasgow and Clyde, will now test newborn babies to see if they have Spinal Muscular Atrophy (SMA), a rare condition which causes progressive muscle wastage.
SMA can affect movement, breathing and swallowing. The Scottish Government and pharmaceutical company Novartis are funding a two-year evaluation to assess how well SMA screening can detect the condition earlier, allowing babies to receive treatment as soon as possible. The hope is that this test could enable earlier treatment and improve life chances.
Previously, people affected will have been tested once they displayed symptoms. Scotland is now the first part of the UK to screen newborn babies for the condition.
On average, three to four babies per year are born with SMA in Scotland. All parents are now offered SMA screening for their newborns through the existing blood spot test, which is taken around day four after birth.
Tony and Carrie Pearson’s daughter Grayce (3) has SMA and is an outpatient at the Royal Hospital for Children, Glasgow. She relies on her wheelchair to get around due to the impact of her condition and requires ongoing care to support her. Grayce was diagnosed at 14 months and given the treatment required that aims to stop the muscle wastage.
“Grayce’s treatment worked well but we believe that if we understood that she had SMA earlier, she would have been treated with the medication sooner and the outcome would likely have been better for her. We are pleased that this test is now routine for newborns. It is so important and incredibly helpful for families,” Tony said.
Last week, The Pearsons – including Grayce – visited the NHSGGC Laboratory where the testing will take place. They learned the process used and met with others involved in getting the routine screening underway included NHS Greater Glasgow and Clyde’s Consultant Clinical Scientist and Director of the screening laboratory Dr Sarah Smith.
Dr Smith said: “It was fantastic to see Grayce and her family, and to welcome others to our laboratory. Seeing Grayce’s smiling face is a reminder to all of us that behind every test we do, is a child who deserves the best chance at life.
“We are working closely with the UK National Screening Committee and other UK laboratories to assess the screen in a real-life setting. Our staff have worked tirelessly to begin screening as quickly as possible so we can start to understand the impact that earlier treatment may have on babies born with this condition.”
Health Secretary Neil Gray said: “Scotland is the first country in the UK to start the evaluation of SMA screening.
“SMA can have devastating implications for babies and their families, and this investment demonstrates our commitment to early detection through our screening programme.
“I thank SMA UK and local campaigners who have worked so hard to highlight this issue and Novartis for its funding. By detecting SMA before symptoms develop, screening could allow earlier treatment which could be life-changing and help secure the best possible care and support for babies and families.”
SMA UK charity CEO Giles Lomax said:
“This milestone represents an important step forward for the SMA community.
“With all three treatments now routinely available through NHS Scotland alongside newborn screening, the future for anyone diagnosed with SMA is very different compared to their peers who were diagnosed symptomatically.
“These babies will now have the opportunity to grow up without life-long health care needs and the complexity and challenges of living with SMA.
“I would like to thank the Scottish Government, the numerous clinicians and the Scottish Muscle Network as well as Novartis for their on-going support to drive change.”
UK and Ireland Chief Medical Officer at Novartis Rob Hastings said:
“We are delighted that Scotland has become the first nation in the UK to introduce newborn screening for SMA, helping ensure families benefit from timely diagnosis.
“This programme marks a significant step forward in early detection and intervention, giving babies the chance to receive the care they need as soon as possible.
“Early identification of SMA can make a meaningful difference to children and their families, and we are confident Scotland’s participation will provide the evidence needed to make SMA a long-term screening programme.”
Scottish Director of Screening Dr Tasmin Sommerfield said:
“I am delighted that Scotland is following the advice of the UK National Screening Committee and commencing this in-service evaluation of SMA screening.
“It will allow babies with SMA to receive the best care and treatment as soon as possible.”