Scotland begins testing newborn babies for rare genetic condition

Scotland has become the first part of the UK to test newborn babies for Spinal Muscular Atrophy (SMA).

The rare genetic condition causes progressive muscle weakness and, without treatment, can limit life expectancy to just two years.

Babies can be identified as having SMA through a heel prick test and early treatment can prolong their lives. As part of a two-year pilot, this test will now be given to all babies born in Scotland.

The test has come too late for Grayce Pearson, now three, from Milton, Glasgow, who was diagnosed with SMA type 2 when she was a baby.

She lacks a protein vital for muscle development which affects everything from walking to swallowing and breathing.

Her father Tony said: "Overnight she stopped kicking her legs and wasn't attempting to crawl. She wasn't trying to reach out for things."

Getting a diagnosis is a race against time because as nerve cells die, treatment options and outcomes change.

After raising concerns about her six-month-old baby's decline in movement, her mother Carrie said she was at first told she was just being an over-anxious mother.

"A child just doesn't stop being able to physically move her legs altogether," she said.

Grayce was eventually diagnosed when was 14 months old.

Carrie said: "Grayce's age when she was diagnosed, she couldn't get gene therapy, which would have been a one-off and she probably would have been making her milestones."

Grayce is now taking medication which improves her symptoms.

"Even the fact that she's twisting around and reaching for stuff, she couldn't do that at all," Carrie said.

Grayce is a happy three-year-old, who loves going to nursery, playing music and whizzing about in her wheelchair - things her parents weren't always sure she would achieve.

Tony said: "After two years on the medication they don't tend to see progression after that but as a parent you remain optimistic to what you physically can do."

It was recommended that the couple take Grayce swimming as much as possible as water resistance helps to build muscle.

"I take her every two or three days," Tony said. "I need to be doing it to try and fight for her."

Carrie and Tony have been campaigning for SMA to be added to the conditions screened for in the heel prick testing offered to newborns.

"As soon as that baby is born, if the parents find out their children have got SMA they can start gene therapy and show little to no symptoms," Tony said.

"For what we've had to go through, I just want other parents to be saved that scary moment of diagnosis."

On average, three to four babies a year are born with SMA in Scotland.

The Scottish Newborn Screening Laboratory in Glasgow tests about 50,000 heel prick samples every year.

Until now, it has tested for 10 rare, but serious, conditions and now SMA will be added to that.

Director Sarah Smith, who is also NHS Greater Glasgow and Clyde's consultant clinical scientist, said: "We're testing babies that haven't shown the symptoms yet.

"So they appear to be perfectly, lovely, healthy babies and the parents don't know what's going to come in the future with these diseases.

"So by picking them up pre-symptomatically, we can get them onto the treatment and in a lot of cases the symptoms of those diseases will never actually present themselves."

Health Secretary Neil Gray said: "Scotland is the first country in the UK to start the evaluation of SMA screening.

"All babies born in Scotland as of the 23 March will now receive the SMA test as part of the blood spot test that every baby in Scotland receives.

"This is a pilot across Scotland to help inform the UK screening committee about its efficacy and to allow them to take a further recommendation about its wider rollout."

He added: "SMA can have devastating implications for babies and their families, and this investment demonstrates our commitment to early detection through our screening programme.

"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 chief executive 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 lifelong health care needs and the complexity and challenges of living with SMA."

Jesy Nelson has been calling for all babies in the UK to be offered testing after her twins were diagnosed with SMA type 1, which is more severe than type 2.

In a video shared on her Instagram account in January, Nelson revealed her daughters would "probably never walk."

She told her 9.7 million followers the twins had not been showing as much movement in their legs as they should have been, and they were struggling to feed properly.

She launched a petition which gained 100,000 signatures within a day, meaning it will now be debated in the House of Lords.

In response, she shared another video post in which she said: "You have no idea how much this means to me and the SMA community.

"I cannot actually put into words how grateful I am that this moment has just happened right here! And it is all thanks to you guys.

"This is the first hurdle but we bloody did it and I truly believe that together we are going to make change."