'There was a joy about her that is gone': Parents speak out about Down syndrome regression

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2 days ago

Parents of those with Down syndrome are speaking out about their children beginning to regress when they reach adolescence or adulthood.
Many families in Ireland are affected by Down syndrome regression, a condition marked by the sudden loss of previously acquired abilities that can progress rapidly over weeks or months.
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The number of cases of Down syndrome regression is growing, yet in Ireland, there is no clear medical or support pathway for those affected.
Symptoms include loss of speech, motor difficulties, social withdrawal, compulsive behaviours, and in some cases, individuals become non-verbal, unable to care for themselves, or engage in previously enjoyed activities.
Sorcha Ward's daughter, Aoife, from Co Donegal, was around 18 when she began regressing in 2016.
A once happy, fun-loving, GAA-obsessed young woman, she started becoming slow to get ready in the morning, putting her clothes on back to front, and having bouts of crying for no apparent reason.
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I haven't given up for Aoife yet
She used to have excellent timekeeping, often being up and ready for the day before her mother even woke up, but quite quickly, she lost interest in almost everything.
'If an elephant fell from the sky in front of us, she wouldn't take any notice of it,' her mother, Sorcha, says.
That was around 2016, and now, eight years later, 'she's middling,' according to Sorcha.
'She's not like she was before she regressed, but she's better, with treatment, she's a bit better. She hasn't regained a lot of the stuff she lost; she's sort of happy enough, in some ways.'
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Sorcha took her daughter to the GP in 2016 to discuss the issues, and it was 2021 before they got a diagnosis of catatonia in Down syndrome.
A 'battle' for medication
Aoife received medication to try and combat the regression after a six-month 'battle' for it, but that has since been stopped.
According to experts in America, the longer you wait for a diagnosis, the less effective treatments are likely to be, Sorcha says.
Regardless, Sorcha says, 'I haven't given up for Aoife yet'.
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She had never heard of Down syndrome regression until it was mentioned to her, and Aoife's symptoms fit.
'I said, oh god yeah, she's slow getting up in the morning, she's putting her clothes on back to front, all these things, simple stuff, not knowing her numbers, stuff that she did know from school."
Even when Aoife would write a card for somebody, she began getting her letters mixed up, and Sorcha says, 'I was kind of getting annoyed with her, like 'Aoife, you know that', but she just didn't know'.
'She just lost interest in everything, lost interest in football, didn't want to go to anything… She must have spent about a year in bed, she didn't want to come out of that'.
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Sorcha knows that her daughter was always going to have challenges, 'and with the Down syndrome, there were things she wasn't going to be fit to do, but she enjoyed life'.
There was a joy about her that's gone, it's not there now
Aoife even had a job in a local café in 2016, 'and she thought she was mighty, heading into work,' her mum says.
But come 2017, she was no longer able for it, 'she was getting overwhelmed, then these terrible episodes of crying, but she was really happy, and messing before this happened.'
Aoife loved going on holiday and flying, and getting out of the house with her parents, even if just to do a food shop. She would answer the phone, she slept well, ate well, and 'she was as healthy as any of us in the house were, probably healthier, really'.
'It all changed'
'So that's the way she was, and then it all changed… she just got worse and worse'.
She stopped sleeping and would be up all night 'rocking' in bed.
'You'd be afraid she'd split her head on the back wall, [staying up] every other night with her,' Sorcha says, and the regression affected everybody in the house.
'We weren't getting sleep then, that alone, and then just having to watch her going through, sitting on the seat and just not speaking to us, saying simple things to her and her not even knowing you were in the room'.
'That's the sense you got because she didn't look at you, she didn't look you in the eye, she wasn't aware what was going on around her'.
'When she was very bad, along with the movements, she was making noises… it was tight [awful], I definitely wouldn't want to see anybody else go through it,' Sorcha says.
Awareness
Sorcha wants awareness that Down syndrome regression is something that can happen, and she wants that awareness within the medical community and families of people with Down syndrome alike.
'We can't be letting these people just be like this, it's not right. If I lost what Aoife lost, if I lost my speech, if I didn't know what day it was, if I didn't know how to write something anymore, there would be somebody testing me for things, I wouldn't be just left'.
'It's not right, why does it seem to be alright to think it's up to something else, it's not that serious or whatever, it's a very serious thing,' Sorcha says.
It's a whole life, it's a life-changing thing for everybody who is involved in looking after that person, it involves the whole house'.
Sorcha doesn't apologise for getting emotional anymore, she says, because 'there's no harm in getting emotional about stuff, that means you care'.
'I'm her mother. I don't want the best for Aoife, I've given up on that a long time ago, because I do believe she was let down. Had this diagnosis come earlier, I believe she might have been a better Aoife now, but I did my best.'
Ray Harte
, of Portlaoise, Co Laois, first noticed a difference in his son,
Aaron
(28), around 10 years ago.
'It would've been just around the time he was leaving special school to move out into day services. That summer we noticed a whole change in his behaviours and lots of stuff like that,' Ray explains.
'The initial thing that we saw with them was like a zoning out, and we thought it might be something like some sort of epilepsy or something like that'.
What we found was that the current, I suppose, medical approach to Down syndrome tends to be to lump it in under 'it's Down syndrome'
'There was a dramatic change; he would zone out, and he could be staring into space, and that was the start of it".
Aaron Harte from Portlaoise.
Since then, Ray and his wife have brought Aaron for 'all types of tests,' scans and anything that 'might show up something'.
Tests for physical issues
They checked common ailments first, he explains, testing physical issues such as eyes, ears and teeth.
'Really, what we found was that the current, I suppose, medical approach to Down syndrome tends to be to lump it in under 'it's Down syndrome,' and a lot of diagnoses tend to be around depression and stuff like that'.
'We have been through the mill with this young man and he's been through the mill with us, but it has brought huge stress on the family because you're dealing with something that you don't really know how to deal with, because like some of the behaviours, we went through phases of extreme aggression, where obviously, Aaron didn't know what was going on'.
Aaron has flipped the kitchen table, thrown dinner plates, and gotten physically violent before, but Ray says that, although they have gone to multiple medical professionals and specialists, they have not been able to give him answers about what was going on with his child.
After doing his own research in 2020, finding Dr Jonathan Santaro in California and his research on Down syndrome regression disorder, Ray brought it to medical professionals, but noticed that they were not aware of the disorder.
Aaron has since been prescribed antipsychotic medication after the family worked with a specialist. It has helped in some areas, but 'again, nobody has said 'this is what the problem is''.
'Until you get that firm diagnosis, it's very, very difficult to deal with it. We can only deal with it in the traditional manners, which, a lot of it tends to be medication,' Ray says.
Work with Down Syndrome Ireland
Ray began working with Down Syndrome Ireland in 2024 to bring awareness to Down syndrome regression, after contacting them and asking for help.
Aaron is now in a person-centred day service, and they have a support worker who works with Aaron on a one to one basis, and helps the parents deal with some of the behaviours and issues they were going through with their son.
'You chastise your child no matter what, whether they have Down syndrome or not, you'll chastise them if you think his behaviour if there was a problem'.
However, Ray noticed there was nowhere for parents to be advised on how to deal with the behaviours that come with Down syndrome regression, 'you just didn't know what you were dealing with'.
'The element of nobody being able to actually put a finger on it, you find then at times it's a little bit hit and miss in trying to diagnose what's going on, because it could be depression, it could be anxiety, it could be psychosis, it could be, physical problems, but you can't get that,' he says.
Support
One thing he says helps him, though is having a support network, as he has been chairman of the local Down syndrome branch for years.
'When you did find you were under a lot of stress or pressure, that if you did have other parents you could talk to, it can always kind of lighten the load, and they always say that if you're able to talk to somebody, it makes it an awful lot easier.'
However, Ray hopes that the research into Down syndrome regression in America will eventually point towards what triggers it.
'This is what makes it so difficult is that we don't know what causes it and then trying to get a diagnosis on it is very difficult, so you're kind of in no mans land, you can imagine the element of stress and worry because you don't know what's going on and again we have the added problem our man is technically nonverbal so he can't really tell you what the problem is,' he says.
Short window for results
'The other concern I have on this as well is that in talking to Jonathan Santoro, from some of the work they've done in the States, there is a very short window in this from diagnosis to getting, if you want to call it, positive results. They say there's about 2.5 years that tends to be the gap where they get the best results'.
'Like my young lad now, and there's possibly other adults out there that maybe are going through this for longer periods, so we don't know, even if he does get treatment for this, we don't know where he's going to come back, where his baseline is going to be,' Ray says.
'But it's quite possible it won't be back where it was before we started out on this, and before we started out on this like he was a gregarious, friendly young lad, and goy involved in everything, everyone knew him, and now he's withdrawn, a lot of anxiety'.
It creates its own element of isolation, an exclusion
Ray describes his son's condition as 'as if you had a different person in the house'.
Regardless, family life continues. Ray has two other sons, one older and one younger than Aaron, with his wife.
'We have to live our lives, and we have to live the lives with our other children, and sometimes it's very difficult when a lot of attention is on one individual in the house'.
Ray is hopeful that they will be able to identify that Down syndrome regression disorder is what his son has developed.
'It kind of has to be done, as you say. It's your child, you have to look after them no matter what, no matter how things are.'
So he continues the fight, the research, and the hope, to get an answer for his son and any other family affected by the condition.