22q11.2 deletion syndrome

In 1967, DiGeorge syndrome entered the medical lexicon (Lischner et al, 1967). More widely known as 22q11.2 deletion syndrome, it is the most common chromosomal condition after Down's syndrome, and has a frequency of around 1 in 4000 live births (O'Donoghue et al, 2023). It is a complex, multi-system disorder with over 180 age-dependent clinical features; in infancy, congenital heart defects, cleft palate and feeding difficulties, immune disorders and hypocalcaemia can be observed (O'Donoghue et al, 2023).

In an Irish study, O'Donoghue et al (2023) found that the families of those with 22q11 deletion syndrome experience difficulties ‘largely regarding the disclosure of diagnoses and the lack of adequate provision of support and information’, and that healthcare professionals have a poor understanding and a low awareness of 22q11 deletion syndrome. Although it is relatively rare, rare diseases are collectively common. Anne Lawlor is the Co-founder and Chair of a 22q11 deletion syndrome support group, 22q11 Ireland, whose daughter Áine was diagnosed with 22q11 deletion syndrome aged 15 years old. Anne explains that ‘over ten thousand rare diseases affect one in seventeen … and genetic screening at birth is vital’ (Winter, 2024). Midlands-based Julie Wootton, who founded the English 22q11 deletion syndrome charity Max Appeal agreed, highlighting that ‘at Max Appeal we're campaigning for 22q11DS to be added to the list of conditions screened through heel-prick tests of newborns’ (Winter, 2024).