'My baby didn't have to go through this' Mother calls for expansion of newborn screening
Lisa ODonnell
A mother whose child could have avoided the life-changing effects of a muscle-wasting condition has called for the country's newborn screening service to be expanded.
Liz McMahon's son, Luke Ryan, now three years old, cannot walk and needs to be tube-fed due to a genetic neuromuscular disorder.
However, a simple blood test for the condition at birth would have led to him being diagnosed early and receiving treatment soon after he was born. This would have ensured many of his current health issues would have been avoided.
Under the newborn screening service, babies are currently screened for eight conditions, which are rare, but treatable if detected early.
Pic: Supplied
This is known as the 'heel prick' test, as it involves taking a droplet of blood from the baby's heel shortly after birth. Some of the conditions tested for include cystic fibrosis and congenital hypothyroidism.
However, there have been warnings that Ireland is lagging behind its European counterparts in the area, with countries such as Italy testing for up to 40 conditions, and some US states testing for more than 50.
Last year, the Department of Health set up a National Screening Advisory Committee (NSAC) to advise the Minister of Health on national screening programmes.
However, parents whose children's quality of life could have been improved by early detection are calling on the Government to ramp up the programme as soon as possible, to help children such as Luke to benefit from early detection of such conditions.
McMahon, from Co. Meath told the Irish Daily Mail that when Luke was six weeks old, she noticed that he was sleeping a lot and that his movements were limited.
It wasn't until he was hospitalised with RSV bronchiolitis that doctors discovered that he was suffering from the effects of spinal muscular atrophy (SMA), a rare, genetic neuromuscular condition which causes progressive muscle wasting and weakness, leading to loss of movement.
It affects walking and upper-body movement, as well as breathing and swallowing. Luke was put on treatment for the condition at just nine weeks old.
However, this was too late for him to escape the devastating impact of the disease. 'We'd never heard of SMA and you're told that your baby has this condition and it's just devastating,' McMahon said.
Pic: Shutterstock
'It's a simple blood test and if it was included in the heel prick test, you've a good week or two weeks to start treatment and then the child will never suffer the effects of SMA. That would just be amazing. Any child born and the heel prick test tested for SMA, they'd never have to go through what Luke goes through on a daily basis.'
Due to awareness that the condition was in the family when McMahon fell pregnant with her next child, the baby was tested for SMA before birth, and the result was positive.
And thanks to the early diagnosis, baby Seán was able to start treatment at just 10 days old. While Luke needs to be tube-fed, cannot stand and needs regular physio, his brother Seán has largely avoided the effects of the condition.
'It meant that we could prepare for when he [Seán] was born. He started treatment when he was 10 days old and the difference is amazing,' McMahon said.
'Seán is just like any other 15-month-old baby - shouting, starting to walk, eating, drinking and doing everything that a 15-month-old baby should do.
'The Government, if they would just think with their business head, would save themselves millions in the long run because they wouldn't need the follow-up treatment that all other SMA children are getting at the moment. To me, it's a no-brainer, it's an absolute must that they should test for it.'
The CEO of Rare Diseases Ireland, Vicky McGrath, said other countries are 'streaking ahead' of Ireland in the area of newborn screening.
'For people living with rare conditions, it would be hugely beneficial to get an early diagnosis, because, at the moment, you're talking about five, six, seven years to get a diagnosis,' she said. 'There are therapeutic products on the market now - there are more coming to market that the earlier the intervention, the more likelihood there is of benefits to quality of life.'
McGrath added that it would also help create a record of those living with rare conditions in Ireland, which she says the health system is currently lacking. 'Even simple things like planning, certainly in Ireland where we don't have any type of access to databases, and that is very clear with what's going on with vaccine rollouts at the moment,' she said.
'There's no joined-up system and newborn screening is a way of providing a joined-up system that we actually understand how many people are living with particular conditions.'
Karen O'Flaherty's daughter Rose, now four years old, was diagnosed with SMA at nine months, and O'Flaherty has also joined calls for more conditions to be added to the heel prick test.
Rose, from Tralee, Co Kerry, was 11 months old when she started treatment, and now needs constant care. She has also developed the spine-warping condition scoliosis as a result of SMA causing her muscles to deteriorate.
'There were a lot of months wasted where she could have saved a lot - she was getting weaker and weaker all the time, she was starting to lose her swallow, she could not cough, she couldn't even cry,' O'Flaherty told the Mail.
'Rose is 24/7 dependent on somebody, from the minute we wake up in the morning… She's still in nappies at four years of age, she can't dress herself - she can feed herself, she didn't lose the ability to swallow. If it was a simple thing like putting it in the heel prick [test], Rose would not be losing out on so much in life.'
A Department of Health spokeswoman said last year that the NSAC made a recommendation to Health Minister Stephen Donnelly to add adenosine deaminase deficiency-severe combined immunodeficiency (ADA-SCID) to the list of conditions screened as part of the newborn screening programme and that this recommendation was approved by the minister.
The HSE will now proceed to implement this addition, which will bring to nine the number of conditions screened for in Ireland. The minister has asked the NSAC to look at further expansion of the programme this year.
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