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Seán (2) and Luke Ryan (4), who have Spinal Muscular Atrophy (SMA). Fran Veale

'Timing is key': Parents call for inclusion of rare genetic disease in newborn heel prick test

SMA is a degenerative disease that causes damage to nerves that develop muscle function and allow children to eat, move and breathe.

THE PARENTS OF two boys with Spinal Muscular Atrophy (SMA) are calling on the government to add the condition to the heel prick test for newborn babies to ensure early diagnosis and treatment.

SMA is a degenerative disease, the most severe form of which is SMA Type I, which is also the most common. Without treatment and ventilatory support, 90% of children with SMA Type 1 will die before the age of two.

Around six babies each year in Ireland will be diagnosed with SMA.

Clinicians have said that by the time children begin to show symptoms and get a diagnosis, which might happen at around three to four months of age, irreversible damage will have been done to the nerves that develop muscle function and allow children to eat, move and breathe.

Liz McMahon and David Ryan, parents of Luke and Seán Ryan, are calling on the government to include this condition in newborn screening.

Luke’s SMA was diagnosed when he was eight weeks’ old and treatment started at nine weeks. The now four-year-old cannot walk – and is never expected to walk – and has to be tube fed. He requires round the clock care, including a night nurse seven days a week.

His younger brother Seán, who was tested before birth, began receiving treatment at 10 days old and lives a largely normal life.

Speaking to The Journal, Liz McMahon said the experience with her two boys demonstrates the importance of early diagnosis and treatment. With Luke, his symptoms only began to show when he was around five weeks old and by the time he was diagnosed the condition had already done significant damage, she said.

Seán, on the other hand, was pre-symptomatic when his treatment started. He received the one-off gene therapy infusion Zolgensma, which his mother said has had incredible results. 

“Seán is two-and-a-half now and he’s walking around, eating, drinking, doing all of the things that a two-and-a-half year old should be doing,” she said.

Timing is key here, we can see that if it’s treated when they are pre-symptomatic they can have a normal life and outlook and future. The effect SMA has had on Luke means life for Luke will be much more challenging. 

“When I talk about the boys and I look at them and see how well Seán is doing and how challenging life is for Luke I always think ‘if only he got treatment that young’. That’s why it needs to be added to the heel prick test, parents shouldn’t have to think ‘if only’, and wonder how different things would be if it had been identified earlier.

“It seems to be a simple change and it would save a lot of heartache for children and families in this country.”

26062022_JB1-37 Liz McMahon and David Ryan with their sons Luke (4) and Seán (2). Fran Veale Fran Veale

Cost savings

McMahon said the cost of adding SMA to this test is estimated to be €300,000 per year. 

“When you think of the overall budget that’s a drop in the ocean,” she said. “It’s a small price to pay to give children a quality of life.

“If you look at cost, Seán’s treatment was expensive – around €2 million I think. But if you compare that to Luke, who’s had numerous hospital stays, a longterm stay in ICU as a baby, all of the administration, the nurse in-house seven nights a week and all of the additional interventions and therapies he needs, the costs are well beyond that. In the long-run it would be a saving for the government.”

The inclusion of the condition in the heel prick test is supported by clinicians who specialise in this area, who have highlighted the importance of early diagnosis and treatment for the quality of life of children with SMA. 

Professor Declan O’Rourke, Consultant Paediatric Neurologist in Children’s Health Ireland at Temple Street said there are now several treatments available for SMA, which have “completely changed the landscape” for treatment of the condition in Ireland.

“Some treatments however cannot be administered to children over the weight of a typical two year old, and in some cases these patients will have developed antibodies that means they are unsuitable for treatment,” he said.

“Early diagnosis and intervention is therefore critical. Children’s Health Ireland strongly supports the addition of SMA to the national newborn screening program.”

Expansion of programme

Health Minister Stephen Donnelly was recently asked about the possibility of including the condition in the test – known officially as the National Newborn Bloodspot (NBS) Programme.

In response to questions from Fine Gael TDs Neale Richmond and Michael Creed, he said the expansion of this programme is a priority for him and the  National Screening Advisory Committee (NSAC) has been progressing work on this.

A ninth condition, ADA-SCID (Adenosine Deaminase Deficiency Severe Combined Immunodeficiency), was added to the NBS programme on 23 May this year.

The minister said the NSAC has commissioned the Health Information and Quality Authority (Hiqa) to undertake a  health technology assessment looking at the addition of other SCID types to the NBS programme. He said he expects to receive a recommendation from the committee on this condition after the process is finalised later this year.

“Given that this is a complex area, careful consideration must be given to the expansion of the NBS programme and these things can take time, however, it is important that decisions are made based on internationally accepted criteria and scientific rigour,” he said.

“I am aware of how difficult it is for parents whose children have received a diagnosis of a rare disease, and how challenging daily life can be for them, their families and their children.

“It can be an overwhelming situation and can be very isolating for many families because of the significant work that is involved when a rare disease is diagnosed. I am committed to the further expansion of newborn screening in Ireland and in identifying opportunities for future additions to it.”

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    Mute Luke Sarpish
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    Jan 16th 2016, 4:31 PM

    So basically we have to apologise for everything we say.

    271
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    Mute Jbob How
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    Jan 16th 2016, 4:35 PM

    Only the stupid shit. I don’t know how that affects you…

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    Mute Deborah Behan
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    Jan 16th 2016, 5:42 PM

    I lost a close friend a year ago. I would not be able to joke about it now because the pain is so bad. He was right to apologise. Just because someone is famous it does not mean people don’t have the same pain.

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    Mute Lurfic
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    Jan 16th 2016, 5:51 PM

    Deborah you should try joking about it. It’s a very good way of helping yourself get through it.

    92
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    Mute Wolves 1966
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    Jan 16th 2016, 5:55 PM

    Jon Snow should have to apologise for being Jon Snow. Channel 4 would be a much better place without the likes of him.

    11
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    Mute Luke Sarpish
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    Jan 16th 2016, 6:19 PM

    I’m sorry for your loss Debbie.Ok.

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    Mute Enda Kenny
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    Jan 17th 2016, 4:33 AM

    @ Deborah Behan

    sorry

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    Mute Keith D'Arcy
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    Jan 16th 2016, 4:32 PM

    You can’t even joke about the dead now. The PC brigade have finally put a nail in that coffin.

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    Mute Patrick Hurley
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    Jan 16th 2016, 9:14 PM

    Remember when that French comic made a joke about that dead Arab fella.

    19
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    Mute Louis Jacob
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    Jan 16th 2016, 4:28 PM

    FFF… There’s always room for a bit of humour. The joke wasn’t funny but he’s worse to apologise.

    119
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    Mute Enda Kenny
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    Jan 16th 2016, 8:10 PM

    Kevin Costner was gonna play Michael Collins (and direct)

    Alan loved working with Costner on robin hood prince of thieves

    i reckon the ‘dances with wolves’ stars involvement is what attracted Rickman to the project

    he was probably ashamed of himself for being involved in what Neil Jordan eventually made

    same as Gabriel Byrne was ashamed of what Jim Sheridan did with Gerry Conlon

    3
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    Mute Len Brennan
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    Jan 16th 2016, 8:37 PM

    Did you for get to take your tablets again Enda?

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    Mute T Beckett is back
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    Jan 16th 2016, 8:57 PM

    @Ek

    The Costner interest in Collins is true, but it was Jordan that pitched for that film. He got Rickman involved.

    Costner probably would have been more historically accurate though!

    Don’t know what you’re on about with Gabriel Byrne but I’d take Danny Day over him any day of the week ;)

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    Mute Enda Kenny
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    Jan 16th 2016, 9:06 PM

    would an irish actor make a film that glorified

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    Mute Louis Jacob
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    Jan 16th 2016, 9:24 PM

    True Enda Kenny and guess who’s script they were going to use.

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    Mute Louis Jacob
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    Jan 16th 2016, 9:26 PM

    I’ll give you one guess… Otherwise I won’t tell you.

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    Mute Enda Kenny
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    Jan 17th 2016, 4:31 AM

    @ T Beckett is back

    imagine the hatred british people must have had for DDL when he made in the name of the father

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    Mute Cosmo Kramer
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    Jan 17th 2016, 5:08 AM

    DDL played Gerry Conlon.. An innocent man framed by the British for murders he didn’t commit.. Why would British people have hatred for him playing that part??

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    Mute Grumpeee Oldman
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    Jan 16th 2016, 4:49 PM

    Kinda funny though… Would Mr Rickman have minded?

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    Mute Walter Black
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    Jan 16th 2016, 4:56 PM

    Mountain out of a molehill

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    Mute David McShite
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    Jan 16th 2016, 5:05 PM

    One of those moments when something seems funny in your head until it escapes and is savaged by the delicate flowers looking to be injured by any perceived slight.

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    Mute Vinnie_the_yute
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    Jan 16th 2016, 5:29 PM

    Injured on behalf of a dead person they have no connection with whatsoever.

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    Mute Rasputin
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    Jan 16th 2016, 4:54 PM

    I wonder how they’d handle us Irish where in the face of even overwhelming tragedy the first thing out of our mouths is usually a joke…

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    Mute Harry Whitehead
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    Jan 16th 2016, 7:24 PM

    Unless Richard Wilson himself has complained, I fail to see what gives everyone else the right to take offence on his behalf. Still, you’ve got to hand it to these self-appointed guardians of decency – they never waste an opportunity. As usual, they leapt aboard the outrage bus faster than Usain Bolt at the 100 metre finals.

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    Mute @dela
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    Jan 16th 2016, 4:37 PM

    Look once he realised himself it didn’t sound right I’m cool with that. If he apologised cos of some tweets I know we’re near Armageddon. Especially tweets from weirdos who live, sh|t, breathe and fester by that medium.

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    Mute Shane Gubbins
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    Jan 16th 2016, 4:44 PM

    You know nothing jon snow.

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    Mute Neil Holland
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    Jan 16th 2016, 5:31 PM

    What’s it like to be so predictable?

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    Mute Shane Gubbins
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    Jan 16th 2016, 5:37 PM

    You must be fun at parties

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    Mute Tom Burke
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    Jan 16th 2016, 5:28 PM

    Some people are just waiting to be offended.

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    Mute Deborah Behan
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    Jan 16th 2016, 5:47 PM

    Ordinarily I would agree but the pain of losing someone is so great that this joke in the week they died is simply horrible. Could you joke about your friends death the week they died?

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    Mute Suzie Sunshine
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    Jan 16th 2016, 7:07 PM

    People need to lighten up a bit .

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    Mute ted hagan
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    Jan 16th 2016, 8:28 PM

    Yea lighten up a bit people. It was only someone’s death we’re talking about. Anyone got any jokes?

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    Mute Suzie Sunshine
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    Jan 16th 2016, 8:36 PM

    The joke was aimed at Wilson so he wasn’t being disrespectful towards Alan . no harm done .

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    Mute Kieran Roche
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    Jan 16th 2016, 10:00 PM

    I really dont know why I read this tripe

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    Mute Hugh G. Johnson
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    Jan 16th 2016, 4:30 PM

    Well as Richard Douchet has already proven, British journalists are masters of putting ones foot in their own mouth.

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    Mute Con O'Donnell
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    Jan 16th 2016, 5:28 PM

    I don’t believe it!!

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    Mute Kirsha Sova
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    Jan 16th 2016, 4:40 PM

    Not just bad taste ,but also a terrible joke .

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    Mute Grot Master
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    Jan 16th 2016, 4:50 PM

    Generation Wuss, indeed.

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    Mute Evelyn Murphy
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    Jan 16th 2016, 8:34 PM

    Absolutely ridiculous. People need to get a grip on themselves. We won’t be able to say anything at all soon for fear of upsetting someone. Alan Rickman would uave probably appreciated the joke for goodness sake.

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    Mute Evelyn Murphy
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    Jan 16th 2016, 8:37 PM

    *have*

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    Mute Enda Kenny
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    Jan 17th 2016, 4:39 AM

    @ Evelyn Murphy

    once obama was elected people started sniffing around looking to be offended and when there isn’t anything to be offended by.. t

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    Mute Patrick Fitzgerald
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    Jan 16th 2016, 8:12 PM

    There is a big difference from saying something offensive to saying something in bad taste or some thing stupid or something really awkward. He made a tit of himself and apologised. There is no mention in the article or the tweets about masses of people taking offense. If you just read the comms here youd swear the whole world was up in arms about. Calm down lads. He was right to apologise out of respect alone. Red thumb away

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    Mute FlyingDogThing
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    Jan 16th 2016, 11:30 PM

    You know nothing Jon Snow.

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    Mute Eugene Walsh
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    Jan 16th 2016, 5:05 PM

    All these celebrity DJ, tv anchor newsreader types, tv hosts and presenters need all to be put out to pasture. Sick to the back gnashers of the lot of em. Condescending, contemptuous, over bearing over paid egotistical self righteousness and centred maggots. Ya you heard me !!

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    Mute Peter McGlynn
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    Jan 16th 2016, 5:27 PM

    What u expect from a man that knows nothing.

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    Mute James Stratford
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    Jan 17th 2016, 6:02 PM

    Saw the interview, didn’t cross my mind that it was inappropriate at all. Was a very personal and difficult enough conversation to have, I thought Jon Snow did his job admirably and it was a moment that lightly trivialised the sad news, which is exactly the normal human response to dealing with something tragic that we don’t want to believe has happened. I’d say most people upon hearing the news of Rickman’s passing couldn’t believe it. It was perhaps just a subtle side note that ironically the person who was famous for the phrase could sadly believe it all too well.

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