Parents ‘devastated’ by child’s devastating diagnosis after noticing minor change in behaviour

Tony and Carrie Pearson were shocked by their daughter’s rare and devastating diagnosis after becoming concerned about the 16-month-old’s behaviour. The parents noticed that little Grayce wasn’t moving her legs as much as she had until her first birthday.

The baby seemed to tire more easily and had little interest in moving, a steady decrease in energy from the once active baby. The Possilpark residents took their daughter to their GP, who then referred them to an SMA specialist earlier this year.

Spinal muscular atrophy SMA is a neurological condition that causes progressive muscle wasting and weakness. This eventually leads to mobility problems and type two, which Grayce was diagnosed with, usually occurs in children between six and 18 months.

The 35-year-old dad recalled: “She was tossing and turning and very tired. We asked the health visitor but they weren’t sure what was going on as it was so rare so we went to the GP and they referred us to an SMA specialist. They tested her and she was diagnosed with SMA type 2.”

The parents felt “overwhelmed” by the news they received just two months ago. Grayce was then given a daily medication, risdiplam, in the hope that it would help her start walking around the age of five. Despite only being on the drug for a few months, Tony and Carrie praised the improvement it brought to their daughter, saying it “gave us hope”.

Tony and Carrie are grateful they “caught it in time” and think the signs of progress in Grayce prove it, but since the diagnosis, they’ve worked to raise awareness of the genetic disease that parents can be tested for. Tony shared, “They don’t check this because it’s so rare. We are trying to push to raise awareness to get the government to change this.”

A Scottish Government spokesman said: “The UK-wide independent expert advisory group, the National Screening Committee – on which the Scottish Government is represented – is to review the evidence for a newborn screening program for muscular atrophy spinal. Any decision would consider its effectiveness, including balancing potential benefits and harms, as well as assessing the availability of effective treatments that can improve symptoms.”

SMA is a recessively inherited disorder, meaning that both parents must have one of the mutated genes. Tony and Carrie didn’t know they were both carriers of the gene and are pushing for pregnancy and newborn screenings, including the rare condition.

Support worker Tony is set to join the Edinburgh Kiltwalk in September to raise money for SMA UK, which provides practical and emotional support to those affected by SMA, as well as access to funding for specialist equipment and wheelchairs. The charity also advocates with authorities that regulate access to treatments, care and services and provides information to the wider SMA community.