In 2022/2024 the Oxford, Thames Valley and Wessex newborn screening research study took place.  The results from the study are feeding into the National Screening Committee’s decision on whether to include SMA as part of the standard UK newborn screening blood spot program.   

The “heel prick test” (blood spot screening for newborns) currently screens for nine, rare but serious conditions (cystic fibrosis, sickle cell disease, congenital hypothyroidism, phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1, and homocystinuria) when the baby is around five days old. SMA is still not included. 

By the end of 2024, the Oxford, Thames Valley and Wessex research study had recruited 32,274 participants and screened a total of 29,179 babies. Theo, Hattie and James’s son was one of the participants in the study.   

Theo was born at the end of 2023 and is James and Hattie’s first child. Theo had jaundice so had to stay in hospital a few extra days after birth for treatment. During this time, James and Hattie were approached by a representative from the Oxford Newborn Screening Study, being conducted in their area, and signed up to be part it. The standard screening tests came back all clear but Theo was found to be positive for SMA Type 3. There was no known SMA on either side of James and Hattie’s families and in response to his diagnosis, Theodore started Risdiplam at the beginning of January 2024. 

Hattie says,  

“Theo is doing really well and is a true toddler, running around causing havoc! He started walking at 15 months and hasn’t looked back! He’s hitting his developmental milestones so far which is great and the physios at his hospital appointments are pleased with his progress. He is on Risdiplam every day which he takes happily. He’s started nursery and we’re both back at work four days a week, so we both have a day with him during the week which we really value”. 

Theo’s story highlights the importance of screening early for SMA. SMA UK are working with partners to ensure the work of the Newborn Screening Alliance (consisting of leading SMA experts in the clinical and academic community, SMA UK and MDUK) continues to pursue its objectives and we do all we can to secure the earliest possible introduction of newborn screening for SMA in the UK.  

Find out more about newborn screening and the Oxford, Thames Valley and Wessex pilot here.