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22q11: ‘Nobody else would do the work needed for our families and I had to find my tribe’

“As a mother,” said Lawlor, “22qDS means a very different maternal journey”

November 22nd is International 22q11 Syndrome Day

George Winter
Fri Nov 17 2023 - 06:01

“If only they’d given Kielan the early intervention when it was needed, we probably wouldn’t have been in this situation,” says Karin Kenny. “My oldest son never gets a look-in because our lives revolve around looking after Kielan. Early intervention is key.”

Born in 2005, Kielan was diagnosed – aged 7 and a half – with 22q11.2 Deletion Syndrome (22qDS), the commonest rare chromosomal disorder after Down Syndrome.

The fifth European Conference on 22qDS recently convened in Dublin to hear the lived-experience voices of those such as Kielan and Karin; extend awareness of 22qDS; and bring families, researchers and clinicians together. With a prevalence of between one in 2,000 and one in 4,000 live births, 22qDS encompasses diverse complex medical, developmental and mental health problems. Included among over 180 documented outcomes are those related to the heart; learning and behaviour; speech and hearing; and mouth and feeding.

Anne Lawlor, chair of the 22q11 Ireland Support Group (22q11ireland.org) emphasises that “while rare diseases are individually rare, they’re collectively common, with over 10,000 rare diseases affecting one in 17”. Genetic screening at birth is vital, observes Lawlor: “No newborn screening means that unless babies are born with obvious heart defects or serious immune issues, they’re likely to go undiagnosed.”

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Thus, according to prevalence rates, Ireland should have some 2,500 people with 22qDS. There are currently around 200, including Áine Lawlor, Anne’s daughter, who was diagnosed aged 15.

“As a mother,” said Lawlor, “22qDS means a very different maternal journey: Áine will always need supervisory care that I’ll need to provide until I no longer can. I co-founded 22q Ireland in 2007 because we needed charity status to fundraise and undertake research. Nobody else would do the work needed for our families and I had to find my tribe.”

Addressing the challenges faced by those with 22qDS, and their families, Lawlor combines motivation with intellectual rigour. For example, a recent investigation into the experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland cited a 2017 study in the International Journal of Integrated Care – lead author Anne Lawlor – on developing integrated care in the context of rare chromosomal conditions.

What hinders progress in Ireland in relation to 22qDS?

“Ignorance of the genetic causes of complex care needs amongst the public and health & social care professionals,” asserts Lawlor, “and a lamentable lack of knowledge in schools. Interdisciplinary research would go a long way to resolve this”.

In terms of a psychiatric dimension to an interdisciplinary approach, consultant forensic psychiatrist Prof Gautam Gulati of the University of Limerick notes a higher prevalence of illnesses such as schizophrenia spectrum, plus mood and anxiety spectrum disorders among individuals with 22qDS. “There may therefore be value in screening for these illnesses and working with individuals and their families to provide monitoring, support, and effective treatment pathways. This requires specialist input as many of the physical conditions that potentially occur in 22qDS – like seizures, low calcium concentrations or low thyroid hormone concentrations – can mimic psychiatric conditions and care is needed when prescribing psychotropic medication, given potential heart conditions associated with 22qDS.”

And Prof Gulati indicates that “a higher prevalence of intellectual and/or developmental disabilities associated with 22qDS means that schoolchildren with the condition could benefit from screening and individualised support for attention deficit and/or support with communication and socialisation.”

What would improve life for those with rare conditions in Ireland?

Anne Lawlor stresses that robust research demands databases and rare disease registries. “Collaboration, at home and abroad, would be welcome and research studies need to be co-designed with families and include psychosocial elements.”

Adult services, says Lawlor, are non-existent for the most part. “What would really improve life for those with rare diseases would be a rare disease centre like Agrenska in Sweden which, since 1989, has developed programmes for children and adults with rare disorders, in collaboration with their families and health professionals.”

Wesley Mulcahy – a clinical specialist occupational therapist, working as Ireland’s National Care Co-ordinator for young people with 22qDS – will address the Dublin conference, highlighting the benefits of collaboration. Wesley Mulcahy’s post was established two years ago “through the efforts of young people with 22qDS and their families. Research demonstrated that care for people with 22qDS was fragmented and caused significant stress, both to patients and their families. A business case was submitted to the HSE to use 22qDS as an exemplar condition for a care coordinator; a novel approach to meeting the needs of a rare disease population by having a single point of contact supporting integrated care.”

Integrated care, Mulcahy explains, is an evolving concept, and measuring its effectiveness can be challenging: “I undertake medical and functional assessment with a consultant paediatrician, ensuring complex needs are captured and addressed and design a model of care for young people with rare disease, one that is transferable across other diseases.”

Mulcahy’s model includes delivering parental and patient education, parenting support, developmental input, data collection, and “I’m currently designing animated explainer videos for young people, families and healthcare workers to improve their health literacy and recognition of 22qDS.”

Prof Gulati is clear that “the emphasis, as always, needs to be on individuality, inclusion, equality, and effective participation as the cornerstones of the UN Convention on the Rights of Persons with Disabilities. 22q11 Ireland, as a representative organisation for people with 22qDS, has been invaluable in promoting these values and for its role in research, providing a depth of understanding of the condition through lived experience.”

Anne Lawlor was co-winner of the Unsung Hero Award 2022 at the Biennial International 22q11.2 Conference in Croatia. As Karin Kenny says, “without Anne and the group I honestly don’t know where we would be.”

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