WHEN YOU ASK Kielan Kenny how old he is, he replies 15. He has lost three years of his life.
He was social. He had a dry sense of humour. Now he needs 24-hour care.
Kielan turned 18 last September. He is, by definition, now an adult. But, in his mind, he is still a child. Time has stood still for Kielan since 2021 when he had an intense psychotic episode at the age of 15.
In the years leading up to this, like many children, Kielan had periods of anxiety. However, unlike many, he also has a rare genetic condition – his brain and body were developing in a different way.
Kielan has 22q, he is also autistic and has cognitive issues. He experiences regular psychotic episodes – which can last weeks at a time – and displays symptoms of schizophrenia.
Sometimes referred to as 22q11.2 deletion syndrome or DiGeorge syndrome, 22q is the most common rare chromosomal condition after Down syndrome.
People with 22q have a 25% chance of developing schizophrenia, much higher than the 1% chance among the general population. The only other situation where a person is so predisposed to develop schizophrenia is if both their parents have experienced psychosis.
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Kielan had to drop out of school and his mother cares for him full time. Karin Kenny believes her son would be in a very different position now if he had received early intervention when he first displayed signs of psychosis at age 12.
Because he needs help across a variety of medical disciplines, he has largely fallen through the cracks.
Karin said she has been referred from doctor to doctor, at various times being told Kielan needs to be treated via the Child and Adult Mental Health Services (CAMHS), the Children’s Disability Network Team (CDNT) or psychosis services.
Autistic children are often excluded from CAMHS and instead referred back to their local disability team – despite the fact they may have ill mental health. If conditions like anxiety and depression are untreated before puberty, the severity often deteriorates and in some cases develop into psychosis.
Delayed treatment for psychosis can impact people’s quality of life for decades. As previously reported by The Journal, nobody under 18 has access to an early intervention psychosis (EIP) team in Ireland.
However, the country’s first CAMHS EIP team is expected to start seeing patients in the near future. This will serve the Dublin and North Wicklow area and “will allow young people to transition in a seamless manner if required”, a HSE spokesperson said.
Since he turned 18, Kielan is essentially back to square one – there is confusion over whether or not he needs to be treated by Adult Mental Health Services, EIP services, or a disability team.
When asked about the Kenny family’s struggle to access services, a spokesperson for the HSE said that they “regret that any child and their family would have difficulty in accessing our services”. They added:
In all such circumstances the HSE endeavours to work with all relevant people, including the children’s family, to ensure that they receive appropriate care and timely intervention.
Up to one in 2,000 people are thought to have 22q, but it remains largely unknown and often misunderstood – even in the medical community. It’s estimated about 2,500 people in Ireland have 22q, but many are undiagnosed.
The condition occurs when a small part of chromosome 22 is missing. There are around 180 ways 22q can affect a person including psychosis, which occurs when people lose contact with reality.
The main symptoms associated with a psychotic episode are hallucinations and disturbed thoughts. Some people have a one-off psychotic episode, but don’t develop a related disorder. However, others develop schizophrenia, delusional disorder or schizoaffective disorder.
The earlier a person’s symptoms are treated, the better the outcome. If there is a delay in treating psychosis, it can develop into schizophrenia and severe cognitive decline. Schizophrenia is treatable but not curable.
Kielan first started displaying signs of paranoia when he was 12.
“He removed all the posters off the wall in his bedroom and removed all the toys. He thought they were looking at him. He would keep the curtains closed all the time,” Karin explained.
“He started shoving things down the toilet and start screaming at the toilet.”
During one of his first psychotic episodes, Kielan kept referring to Alex. When asked who this was, he pointed into his mouth. Alex was inside him.
Kielan has been on various antipsychotic medications since then, but Karin believes doctors have not yet landed on a combination that works for him.
“He has lost three years of his life. When you ask Kielan how old he is, he replies 15. It’s like he has not moved on in life,” she said.
His psychotic episodes regularly last for weeks at a time, sometimes with one week of a break in between.
During an episode, Kielan typically wants to shower up to 15 times a day or be constantly driven in the car. He often does not eat for days at a time.
Kielan can get incredibly agitated, at times becoming violent. Sometimes he will repeatedly hit his head on a wall.
“I do get scared, he’s big, he’s strong,” Karin said.
Karin firmly believes if Kielan had received early intervention for psychosis, he would be a very different person now and could have finished school.
“If he got help with his anxiety, that could have prevented the cognitive decline and the psychosis. We probably would still have the child that we had before 15, but he’s not there anymore.”
People like Kielan often struggle to access support because they don’t “neatly fit” into “narrow” service provision parameters, Wesley Mulcahy, 22q complex care coordinator at CHI Crumlin, explained.
Mulcahy said – due to a lack of understanding of 22q among some medical professionals and a lack of communication between services – the “complex” nature of children’s needs isn’t always “appreciated” by the teams who treat them.
Some medical staff “fight to the bone” to not take on certain children, he said.
“I’ve heard things like, ‘That child is now 16 and a half, he’s only with us until he’s 18, will we just wait?’ It’s very frustrating because I can only take things to a certain point and, even if I’ve done all I can do, that doesn’t guarantee a positive outcome.”
If a child’s anxiety or depression is treated sooner, they are much less likely to experience psychosis – whether or not they have 22q.
“By managing those symptoms, we might not find ourselves having the numbers of psychotic young people that we have,” Mulcahy explained.
Paediatric consultant Dr Suzanne Kelleher said CAMHS will sometimes not treat a child because their symptoms are not severe enough.
“CAMHS will say, ‘They’re not bad enough for us, we’re only seeing children who are self harming, with suicidal ideation’. And yet, we know that untreated anxiety in this population exponentially increases the risks of development of psychosis,” she said of children with 22q.
A number of recent reports have highlighted that CAMHS are under-staffed, under-regulated and under-funded.
When we put these issues to the HSE, the spokesperson said that teams across Primary Care, Disabilities and CAMHS have a joint working protocol which “aims to make the referral process between these services more seamless”.
In cases where it appears that more than one service could best meet a child’s needs, “consultation should take place with the other service(s) to determine which is the most appropriate or whether a joint approach is needed”.
When deciding if a child or adolescent needs to attend CAMHS, “a number of factors are considered” including the person’s clinical presentation, their level of social and family support, and the availability of resources and treatment options at primary care level or within community networks.
If a young person presents with complex needs and a moderate to severe mental disorder at the same time, it is the role of CAMHS to “provide appropriate multidisciplinary mental health assessment and treatment for the mental disorder”.
This may involve shared care with other agencies.
Kelleher said 22q could be diagnosed sooner if it was added to the list of conditions covered by the heel prick test – screening carried out on newborns to diagnose rare but serious conditions. Prenatal screening could also detect 22q, but it is not typically included in the conditions tested for in Ireland.
A spokesperson said expanding the heel prick test is a priority for the Minister for Health, and the National Screening Advisory Committee (NSAC) has been actively progressing work in this regard.
NSAC, an independent expert group, invites stakeholders – including members of the public, the HSE and other medical professionals – to make proposals for the introduction of new population-based screening programmes or changes to existing programmes.
In its 2021 call for submissions, NSAC received a proposal for a screening programme for 22q. It was one of 34 rare but serious conditions put forward for consideration.
All proposals will be examined by NSAC before a decision is made on whether or not to put it forward to the next stage – an evidence review which examines aspects such as clinical effectiveness and safety.
“Early screening means you can do something that could change the trajectory of the person’s life, saving a lot of money and suffering,” Professor Stéphan Eliez said.
Eliez, who works at Geneva University’s Laboratory in Child and Adolescent Psychiatry, said if anxiety disorders were treated sooner it would prevent some people from developing psychosis.
“If you treat them you can avoid cognitive decline during puberty and significantly reduce the emergence of psychosis.”
Not investing in early intervention for psychosis is the definition of “penny-wise, pound-foolish”, according to Professor Jacob Vorstman, who specialises in child and adolescent psychiatry.
“The most important reason [to intervene] is because you mitigate the trajectory of the child developing psychosis. But also, in the long run, a child going without appropriate care is going to cost a lot more because the prognosis is much worse.”
Vorstman, who is conducting research on 22q at The Hospital for Sick Children (SickKids) in Toronto, said the earlier the intervention, the more likely a child is to stay in school, socialise and lead a fuller life.
“The longer you are in a state of psychosis without it being properly treated, the worse it is for your brain.”
Kelleher started a 22q clinic at the children’s hospital in Crumlin in 2017. Referrals kept increasing and in 2021 – working alongside the advocacy group 22q11 Ireland – she secured funding from the HSE for the complex care coordinator role. Mulcahy took up the position in November 2021.
The clinic takes place every second Tuesday. The plan is to have weekly sessions but, due to a HSE embargo on recruitment, this hasn’t happened yet. While Mulcahy’s role is funded until 2026, more administrative support is needed.
Around 120 children were seen at the clinic in 2023. Kelleher typically meets five children per clinic and spends at least 45 minutes with each child and their parents. They discuss the child’s needs, and she links them to other specialists.
While under 18s currently don’t have access to EIP teams, adults with 22q – and indeed people with other rare genetic conditions – don’t have access to a care coordinator. The 22q clinic tries to ensure a smooth transfer of care from child to adult services, but this is not always possible.
We put this to the Department but did not receive a direct response to this query. The spokesperson did refer to the ongoing development of the Rare Disease Plan and resulting actions that will be required for services.
Ideally, this model of care coordination could be replicated at other hospitals to cater for adults with 22q and patients of all ages with other rare diseases, Anne Lawlor said.
She set up 22q11 Ireland in 2007 due to a lack of support for people who have the condition. Anne’s daughter Áine (40) has 22q and, throughout her life, has struggled to get access to appropriate and timely care.
The HSE funded Mulchay’s role after Lawlor and Kelleher submitted a business plan, outlining why a care coordinator was needed. While welcoming the fact his position has been funded until at least 2026, Lawlor said more needs to be done.
“We had to really fight to get Wesley,” she said, adding that administrative staff and a psychologist should also be hired to work at the clinic.
The care is well coordinated within the walls of Crumlin hospital, but outside that we’re back to abysmal, to long waiting lists. And what happens when the kids turn 18?
Ultimately, Lawlor believes Ireland needs a rare disease centre where patients can be treated and the conditions themselves can be researched.
In December 2023, Health Minister Stephen Donnelly announced a new patient forum to “ensure that patients and families’ voices are central” to the Government’s new Rare Disease Strategy. Earlier this month, the HSE approved funding of €20 million for seven “life-enhancing” drugs for rare but debilitating conditions.
Lawlor, who is also on the board of Rare Diseases Ireland, said news like this is welcome but promotes the misconception that treating rare conditions is “all about very expensive drugs”.
“I don’t want millions of euro, I want an ENT (ear, nose, and throat) appointment for my daughter.”
Until rare diseases are researched in more detail and their treatments better funded, Lawlor said families like hers will continue to “live in fear”.
“They’re dependent on people who have the power, at the stroke of a pen, to either grant services or take away what they already have.”
Today is Rare Disease Day. For more information and support related to rare diseases, click here. More information and support related to 22q can be accessed here.
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FALLING THROUGH THE CRACKS
How are inadequate services impacting young people with psychosis?
By Órla Ryan
This article is part of a wider series, Falling Through the Cracks, by The Journal and Noteworthy which is exploring access to services for people with psychosis and/or schizophrenia.
We would like to hear from teenagers and young adults – or their parents / guardians – who have been impacted by the lack of services available to them. Please email orla@thejournal.ie to share your story.
Supported by the Rosalynn Carter Fellowship for Mental Health Journalism in the Republic of Ireland in partnership with Headline, a Shine programme.
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If you have been affected by any of the issues mentioned in this article, you can reach out for support through the following helplines. These organisations also put people in touch with long-term supports:
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