Scotland becomes first in UK to test newborns for rare genetic condition

## Summary
Scotland becomes first in UK to test newborns for rare genetic condition 7 hours ago Share Save Catherine Lyst and Laura Goodwin , BBC Scotland Share Save Forever Timeless Photography Grayce is a happy three-year-old who loves nursery Scotland has become the first part of the UK to test newborn babies for Spinal Muscular Atrophy (SMA). Grayce is on medication that helps her symptoms The test has come too late for Grayce Pearson, now three, from Milton, Glasgow, who was diagnosed with SMA when she was a baby. 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." Forever Timeless Photography Grayce's parents noticed that she had stopped kicking her legs and attempting to crawl when she was about six months old On average, three to four babies a year are born with SMA in Scotland. 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." Forever Timeless Photography Tony and Carrie say Grayce has achieved things they didn't always think were possible 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." Getty Images Jesy Nelson's twin daughters were diagnosed with SMA type 1 last year Jesy Nelson has been calling for all babies in the UK to be offered testing after her twins were diagnosed with SMA type 1.

## Article Content
Scotland becomes first in UK to test newborns for rare genetic condition
7 hours ago
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Catherine Lyst
and
Laura Goodwin
,
BBC Scotland
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Forever Timeless Photography
Grayce is a happy three-year-old who loves nursery
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.
The condition was
recently highlighted by singer Jesy Nelson
, formerly of Little Mix, whose twin baby daughters have been diagnosed with SMA.
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.
Grayce is on medication that helps her symptoms
The test has come too late for Grayce Pearson, now three, from Milton, Glasgow, who was diagnosed with SMA 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.
Pearson family
Grayce was diagnosed at 14 months and now uses a wheelchair
Grayce was eventually diagnosed with SMA type 2 - which is less severe than SMA type 1 - 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."
Forever Timeless Photography
Grayce's parents noticed that she had stopped kicking her legs and attempting to crawl when she was about six months old
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."
Forever Timeless Photography
Tony and Carrie say Grayce has achieved things they didn't always think were possible
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

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## Expert Analysis

### Merits
- 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." Forever Timeless Photography Tony and Carrie say Grayce has achieved things they didn't always think were possible 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." Getty Images Jesy Nelson's twin daughters were diagnosed with SMA type 1 last year Jesy Nelson has been calling for all babies in the UK to be offered testing after her twins were diagnosed with SMA type 1.

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

### Implications
- As part of a two-year pilot, this test will now be given to all babies born in Scotland.
- 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.
- 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." Forever Timeless Photography Tony and Carrie say Grayce has achieved things they didn't always think were possible 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." Getty Images Jesy Nelson's twin daughters were diagnosed with SMA type 1 last year Jesy Nelson has been calling for all babies in the UK to be offered testing after her twins were diagnosed with SMA type 1.

### Expert Commentary
This article covers sma, babies, scotland topics. Notable strengths include discussion of sma. Areas of concern are also raised. Readability: Flesch-Kincaid grade 0.0. Word count: 1121.