Glasgow couple call for screening to be introduced for rare condition

Tony and Carrie Pearson’s daughter Grayce was diagnosed with Spinal Muscular Atrophy (SMA) type 2 earlier this year.

SMA is a neurological condition which causes progressive muscle wasting and weakness, with type 2 being diagnosed in children aged between six months and 18 months.  

Tony and Carrie, who live in Possilpark, first became aware something was wrong when Grayce, 16 months, stopped moving her legs as much as she had.

Carrie, Tony and Grayce Pearson (Image: Gordon Terris, Newsquest)

Tony, 35, explained:  “In the first six months she was kicking her legs and then we started to notice that she wasn’t really moving her legs.

“She was flopping over and she was tired a lot.

“We asked the health visitor but they were unsure what was going on because it was so rare so we went to our GP and they referred us to a specialist in SMA.

“They tested her and she was diagnosed with SMA type 2.”

Tony and Carrie says they were “gobsmacked” by the news.

Carried said: “It’s hard because you’re told your child’s going to be different.”

Except in rare cases, SMA is inherited in an autosomal recessive manner meaning the affected individual has two mutated genes, often inheriting one from each parent.

Tony and Carrie, 30, were unaware they both carried the gene and now want to see the condition screened for during pregnancy or for newborn babies.

(Image: Gordon Terris, Newsquest)

Tony said: “They don’t screen for this because it’s so rare.

“We’re trying to push to raise awareness to get the government to change this.”

Since she was diagnosed two months ago, Grayce has started taking daily medication, which has only been available for six years, which will help her start to walk by time she is around five years old.

Despite only taking risdiplam for a couple of months, Tony and Carrie have already seen a difference and she’s already been trying to pull her legs up.

Carrie said: “It’s given us hope, we’re seeing progress.

“We’ve caught it in time and we’re doing everything, we’re going in the right direction.”

(Image: Gordon Terris, Newsquest)

Tony, who is a support worker, will now be doing the Edinburgh Kiltwalk on Sunday, September 15, to raise money for SMA UK.

The charity supports practical and emotional support for those affected by and living with SMA, and supports families and individuals to access funding for specialist equipment and wheelchairs.

They also provide information accredited by the Patient Information Forum to the SMA Community, health care professionals and those affected by SMA and they advocate to authorities that regulate access to drug treatments, care and services.

Tony says the charity has been there for the family since Grayce was diagnosed and provided emotional support. 

Giles Lomax, CEO of SMA UK, said: “To prevent life-changing consequences for babies born with SMA in the UK, it is vital SMA is added to the newborn screening programme. 

“We see firsthand the difference early diagnosis and treatment makes.

“Where families have two affected children, one treated after symptoms have progressed and one treated at birth following genetic testing, the differences in the health and mobility of the children are striking.

“SMA UK will do all we can to ensure that newborn screening happens.”

A Scottish Government spokesperson said: "UK-wide independent expert advisory group the National Screening Committee - which the Scottish Government is represented on - is set to review the evidence for a new-born screening programme for Spinal Muscular Atrophy.

"Any decisions would take into account its effectiveness, including balancing potential benefits and harms as well as assessing the availability of effective treatments that can improve symptoms."