Case study: Taking part in spinal muscular atrophy research: Grace's story

Grace Johnston, from Lewknor in Oxfordshire, volunteered daughter Lyra to take part in a screening study for spinal muscular atrophy (SMA) at Oxford’s John Radcliffe Hospital, managed by Oxford University Hospitals NHS Foundation Trust, when she was 5 days old.

The study, Newborn Screening for SMA, involves testing for SMA in the blood that is already taken as part of a routine test offered to all newborns in the UK to screen for other conditions.

SMA is a rare genetic condition that makes the muscles weaker and causes problems with movement, including weak arms and legs, difficulty sitting up or crawling and breathing difficulties. Symptoms become more severe over time. There is no cure but gene therapy treatment can be given if detected before 3 months old to slow development of the condition.  

Grace, who gave birth in April, said: “Previous to getting pregnant with Lyra, I had suffered a miscarriage. I think my anxiety about the baby's health was a lot worse because of the previous loss.

“I felt fortunate that the John Radcliffe Hospital in Oxford included the SMA screening and knew that having it would relieve me of one less anxiety.”

Grace, 30, a strategist in IT and married to Matt, said: “Having the SMA screening was so easy. It didn’t feel like an additional test as it comes from the same blood that would have been taken and checked anyway.”

The study revealed Lyra tested negative for SMA. “For me, the biggest benefit was knowing that if she did have it, it was treatable. Knowing I might be able to protect my child from a very different type of lifestyle boosted my confidence as a first-time mum.”