Chapter 1: What is the main topic discussed in this episode?
The Clare Byrne Show on Newstalk. With Aviva Insurance.
Now, you may have heard this morning that the heel prick test will screen for two more rare conditions from today. And this will have a huge impact on future care for children born with these rare conditions. Joining me to tell me more is co-founder of SMA Ireland, Jonathan O'Grady. And I'm also joined by Stephen Lannan, whose daughter Nellie was born with SMA1.
And you're both welcome to the programme. Jonathan, I might start with you here on this one.
Chapter 2: What is the heel prick test and why is it important?
This is a long-fought campaign, but you surely welcome this news today.
Yes, hello, good morning. This is a really good news day. We're absolutely thrilled at SMA Ireland that SMA is going to be included in the Hillbrick test from today. We started this campaign, oh, I mean, in earnest, probably back in 2022, There's a lot of hurdles you have to overcome. HICWA has to do a health technical assessment.
The minister then takes that review and has to approve the test for inclusion. And then the long journey of actually implementing the test begins. And we were hoping that that would be done in a year. We were a little naive. Here we are some two and a half years later, but we're glad we got here.
Chapter 3: How will the heel prick test impact children with SMA?
Now, when we say SMA, we're talking about spinal muscular atrophy, aren't we? Explain to us what that is.
That's right. SMA is a neuromuscular condition. It's genetic. I have it myself. It's a spectrum condition. In its worst form, untreated, you would expect unfortunately a child with it to not survive past their second birthday. However, in its more milder forms, a child could crawl, may stand and fall over, or may even walk as a toddler and then cease walking later.
The important thing to know about SMA is that it involves the degeneration of the motor neurons. So your muscles gradually stop working.
And your experience of SMA, you live a full life, don't you?
I'd like to think so. Yeah, I've been very lucky. Despite my SMA, I went to college and I've worked all over the world and I've lived in Ireland now for the past 20 years. And yeah, I'm, you know, I think I'm just a typical example of many people out there with SMA. There are about 70 people in Ireland right now living with SMA.
And despite not being able to walk, currently I'm not strong enough to use my arms. With the love of my family, support that I receive from people like the Irish Wheelchair Association, and a number of other bodies, together with maybe some inner strength, one can lead a very full life. And I think most people with SMA surprise their parents and go on to do amazing things.
You know, that's what's so important about having SMA included in the Hillprick test is that now a child born with SMA will receive treatment really early, which means those motor neurons hopefully won't die as quickly and those children will physically be in a much better state.
Okay, and the treatment needs to happen immediately. It's pretty much from birth, isn't it?
Well, unfortunately, a lot of children up till now who've got SMA mightn't be diagnosed until they're 18 months or even older. But this is the difference, isn't it? And by that time, damage has been done. Yeah, this is the difference. And now they'll be diagnosed in three days.
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Chapter 4: What challenges were faced in including SMA in the heel prick test?
Stephen, tell us about Nelly.
So Nellie has SMA type 1. She's about 11 years old. Nellie was born just around the time when the drug was becoming available that they could treat it with. But she wasn't able to get on a trial for it. So she ended up getting the drug through here and there. She ended up getting the drug at about 18 months old. So she'd already had a lot of infections and she'd already become...
quite weak, I would say. So as a result, she lost her swallow and she lost a lot of movement. She lost her ability to cough and walk, sit up, hold her head. So she lost a lot in that 18 months. But the difference if she had had a heel prick test and then got the drug, because when she was a baby, a very small baby, she was kicking her legs up in the air. She was quite strong.
We didn't know she had anything until about six months. So if you're talking about giving her the drug before she loses all that movement, before she loses her swallow, so she can't swallow, which is a huge burden.
So if she got that heel prick test and then she got on a drug early, you know, I don't know where she would be now, but just the difference in terms of care requirement and quality of life for her would be just massive, you know.
Yeah, Stephen, is that hard for you to deal with, I would imagine, knowing the difference that it could make? And I know what you're saying, that the drug, you know, was just coming on at that stage back when Nellie, just after she was born.
So, you know, it's not clear whether it would have made that much of a difference because you might have been able to access it even if the heel prick test existed. But knowing how different her life could be, is that hard for you to process?
I suppose with Nellie, it's just we are where we are. We're lucky to have her. And, you know, we've had plenty of tough days in the intensive care in Temple Street where we're very well looked after. We're very well helped by the HSE with Nellie's care. But, you know, you can't take your eyes off her for a second because you can't swallow it.
And she's obviously, you have to lift her in and out of her chair. You know, everything is done for her. But, you know, we have nurses coming in and out of the house and so on. So we are well helped. It's difficult to manage, as I'm sure Jonathan as well knows there. But she is, you know, I suppose we are where we are. It's not really, you know, it's like saying the grass is green.
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Chapter 5: What is spinal muscular atrophy (SMA) and its implications?
And Nellie does go to school every day, which is great to hear.
Yeah, she goes to school every day with a nurse and an SNA. But, you know, you just have to, you can't take your eyes off her because of not being able to swallow. So if she had had a heel break test and then she didn't lose her swallow, she lost her swallow at about six months. She was still breastfeeding and so on.
So if she had kept her swallow, even that alone would make such a difference in terms of care because, you know, you can't take your eye off her for a second. So, yeah, it just would have made such a difference. Yeah. We are where we are.
Can you explain to us how you deal with that inability to swallow? What does that mean for you and how you look after Nellie?
But yeah, so she can't swallow, she can't really cough, so she gets a lot of chest infections. She spends a fair bit of time in Tempo Street. Now, she's a bit better the last couple of years, but you just have to watch her like a hawk all day long. And if she's literally on the other side of the room, I'll be always calling, Nelly, are you okay? Nelly, are you okay?
Like every 60 seconds or 90 seconds. I'm like a parrot. Are you okay? Are you okay? Because you can't tell. She could be coughing and choking on the other side of the room. You won't know.
And do you have to do sort of suction with a device or drainage?
Like how do you manage it? Yeah, we suction her all the time. So instead of being able to swallow, we just have a suction machine that she takes. She would take two suction machines and a charger to school with her. Every time we leave the house, we take BiPAP with us when we leave the house as well.
Yeah. You must feel that for future families, this is a big day today, isn't it? For families who would be facing this situation, this is really life-changing, isn't it?
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