My current project about information seeking in 22q11.2 Deletion Syndrome families means that I am constantly with ears pricked for any new article or news.
As many parents and support group representatives have told me, it is only a matter of time before someone realises that 22q is more common than people are saying. 22qIreland tell me that although part of the Rare diseases group, this might not be the case for long.
Sure enough, a study into microdeletions and microduplications (small additions/deletions of DNA) in prenatal cases revealed 1 in 992 pregnancies have the 22q11.2 DS. This is different to the 1 in 2,000-4,000 I have quoted in my literature review!
Will this change things? I doubt it. The condition is so complex that although finding it isn’t rare allegedly, the combinations of issues are plenty and one child is not similar to another. This means that GPs will not know the sure signs that could help make diagnosis easier. The information around 22q can fill up volumes of management criteria that GPs may just have no time to read. As a parent told me, 22q can often be invisible, which adds to the difficulty in assessing.
So although the prevalence shows an increase, I think it will be a long way before the condition is treated like Down Syndrome, and the awareness is similar. But this is a step in the right direction, at least that is what the support group thinks. However, do not remove it off the rare diseases spectrum yet. Like many other rare diseases, the difficulties faced are similar – lack of knowledge and experience with the condition, parents are blaming for their child’s behaviour, difficulty in obtaining school support, and they still miss out on strength in numbers, finding communities only in an online environment.
This is why they are so inspirational to me!