‘Gobsmacked’ parents discover baby girl has devastating condition with no cure after she stopped kicking her feet
A MUM and dad spotted their baby daughter’s muscle wasting condition – when she stopped kicking her feet.
Tony and Carrie Pearson’s 16-month-old 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, leading to issues with mobility – with type 2 typically appearing in children aged between six to 18 months.
Tony and Carrie, who live in Possilpark, Scotland, first became aware something was wrong when Grayce, 16 months, stopped moving her legs as much as she had.
Grayce, who had been an active baby up until that point, began to tire more easily and became less interested in moving around.
Tony, 35, said the family are now calling for more screening to spot the symptoms.
Being told your child is going to be ‘different’
He said: “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.
Carrie, 30, said: “It’s hard because you’re told your child’s going to be different.”
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 say that Grayce has 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.”
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.
Call for screenings
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.
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.”
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.
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.
“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.”
Spinal Muscular Atrophy: Everything you need to know
Spinal muscular atrophy is a disease which takes away a persons strength and it causes problems by disrupting the motor nerve cells in the spinal cord.
This causes an individual to lose the ability to walk, eat and breathe.
There are four types of SMA – which are based on age.
- Type 1 is diagnosed within the first six months of life and is usually fatal.
- Type 2 is diagnosed after six months of age.
- Type 3 is diagnosed after 18 months of ages and may require the individual to use a wheelchair.
- Type 4 is the rarest form of SMA and usually only surfaces in adulthood.
What are the symptoms?
The symptoms of SMA will depend on which type of the condition you have.
But the following are the most common symptoms:
• Floppy or weak arms and legs
• Movement problems – such as difficulty sitting up, crawling or walking
• Twitching or shaking muscles
• Bone and joint problems – such as an unusually curved spine
• Swallowing problems
• Breathing difficulties
However SMA does not affect a person’s intelligence and it does not cause learning disabilities.
How common is it?
Majority of the time a child can only be born with the condition if both of their parents have a fault gene which causes SMA.
Usually the parent would not have the condition themselves – they would only act as a carrier.
Statistics show around 1 in every 40 to 60 people is a carrier of the gene which can cause SMA.
If two parents carry the faulty gene there is a 1 in 4 (25%) chance there child will get Spinal muscular atrophy.
It affects around 1 in 11,000 babies.