Colm Fitzpatrick
Anne Lawlor with her daughter Aine celebrating 22q11 Ireland winning the GSK Health Impact Award. Colm Fitzpatrick writes about a rare syndrome impacting Irish families today
“I love what I’m doing because I can see the difference it’s making. I can see the difference it’s making to families.”
These words come from a passionate mother fighting for the voices of suffering parents and children to be heard loud and clear.
Established in 2007, Anne Lawlor is the co-founder of the 22q11 Ireland Support Group, a charity which aims to provide help, support and accurate information to families who have been affected by the 22q11.2 Deletion Syndrome.
Widely unknown in Ireland, the deletion syndrome is caused by a missing section (microdeletion) of chromosome 22, which is present from the time a child is conceived. Present in one out of every 1,000 live pregnancies, in one in 68 children with congenital heart disease, and in 5-8% of children born with cleft palate, the 22q11.2 deletion is almost as prevalent as the better-known Down syndrome.
Anne, whose daughter was diagnosed with the condition when she was 15, says that it is a very complex illness, with symptoms ranging from heart defects to kidney issues.
“The symptoms can range from more serious ones like congenital heart disease to a set of minor disparate symptoms. So, on their own, they might not be considered too much of a problem, but when you put them altogether it can cause a significant disability because you’re dealing with several different things,” she says, adding there are still people being diagnosed at “all ages” because as children they don’t present with enough explicit symptoms.
Notably, not every person with the syndrome is affected in the same way. Anne explains that there are upto 200 anomalies which affect sufferers, and so it’s essentially a “roll of the dice” in knowing what way your child will be impacted.
Harsh effects
The harsh effects of the condition are not only physical, and most sufferers experience mental health issues, including anxiety and other psychiatric illnesses. Indeed, one in four people diagnosed with the condition have a chance of developing schizophrenia.
The 22q deletion is most often a ‘de novo’ event, meaning that it is not inherited from either parent and does not usually run in a family. Only about 10% of children with the 22q11.2 deletion have a parent who is also affected. For parents who do not have the deletion, the chance that a future child might be affected is very low. For individuals with it, there is a 50% chance of passing on the deletion to a child with each pregnancy.
“It’s astonishing the number of people who are walking around and have this syndrome and don’t know about it,” Anne says, noting that parents can find it very difficult to come to terms with the reality of their circumstances.
“When you speak to them about this diagnosis in adulthood it’s really difficult. Number one, because there’s no support for them and number two, they feel like ‘I’ve casted this onto my child and I didn’t know about it’,” she says.
Lack of support
Given the lack support for people suffering from this condition, Anne established the charity in 2007 with just three families, and very little information on the issue. There are now 150 families nationwide who are knowingly affected by it and thanks to Anne’s work are much more clued in about their children’s needs. Through the charity, parents are helping to educate doctors, dentists, consultants, nurses, therapists, teachers, social workers and a host of other professionals about 22q.
Anne explains that when she set up the group, she began to bring over 22q experts stressing that “much to her astonishment and everybody else’s” they explained information that the families had not heard before. This included simple advice such that all diagnosed children should be given vitamin C and calcium checks every year.
For Anne, whose daughter was labelled mildly mentally retarded when she was six, this type of information allowed her to understand why her daughter never hit any of her developmental milestones and why she struggled in school. Before this time, she says that diagnoses were always “vague”, and that the medical professionals in Ireland could not tell her what was ahead.
Today, there is much more help available, and Irish academic institutes are also contributing to the cause. In University College Dublin (UCD) for example, psychosocial research is taking place to analyse how this condition affects family life, whereas in Trinity College, clinical research on schizophrenia and also speech and language research is making headway.
Although the families benefit from this research alongside conferences and social media support, Anne believes that the most valuable resource they have is each other.
“[The family get-togethers] are probably the best thing ever, and better than any piece of research. You can read about something and you know about it on a level but unless you live with something you can’t really know…every time I meet another mother, I meet myself and I don’t have to explain my child to them and I don’t get these weird looks and I don’t get this blank expression”, she says.
“It’s such a relief to be able to sit down with families and parents and share information. We are a very valuable resource to each other.”
Not only is vital advice shared, but children with the condition are able to interact and play with one another, which is a rare experience in normal social situations. Anne explains that it’s very important sufferers meet and realise that there are other people like them. With difficulties initiating as well as maintaining friendships, this provides a wonderful source of hope and joy for those with the condition.
Among the many expectations that Anne has for the future of the charity, she hopes that integrated care will become a reality in Ireland.
“Really what we are working towards is integrated care. Up to very recently, you could see anything between 10-12 specialists when your child is young. They don’t necessarily communicate with each other. Those specialists are looking at the symptoms; they’re not looking at the child,” Anne says.
She adds that the “classic trajectory” of children with 22q is “lots and lots” of appointments when they’re young, including coping with behavioural and mental health issues. This can be difficult to address given that teachers don’t know what it is, which is compounded by the fact that the Department of Education (DOE) don’t recognise the condition officially. This lacuna in integrated care means that parents are generally responsible for coordinating medical appointments and therapies which can be “really, really difficult” to organise especially if you live outside of Dublin.
One avenue, only in its genesis, which is tackling this issue, is a tiny clinic in Crumlin hospital which sees families for an afternoon every month. By having a clinical lead, it means that medical professionals are able to treat the child holistically, review their symptoms and decide where they need to go next. Anne’s vision for the future is that this clinic expands its footprint and also provides more opportunities for transition from paediatric to adult care. Alongside this, her final hope is that 22q becomes as well-known as Down syndrome, and that the charity will be “trailblazers” in showing how to properly coordinate and care for these very “complex” chromosomal syndromes.
In the meantime, Anne says she will continue to try secure funding for more research as well as speak at schools and conferences about this unknown but very real condition.
“I have come to actually love speaking to students. I present now at several conferences, different types of conferences. I love taking part in the research. I love it all, I absolutely love it.”
For more information about 22q11 Ireland and to donate, see: https://www.22q11ireland.org/