Increased prevalence of 22q

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!


3 thoughts on “Increased prevalence of 22q

  1. Lovely post. I am a adult with 22q I am 32 years old. I have a father and three siblings who have 22q I also have my daughter who is 8 years old with 22q. I started my blog for this very reason to get hope to the hopeless for those out there who were lost and scared when they first were diagnosed with something so rare and unknown by the medical community, teachers and other professionals. I blog about our journey when I was 21 I was diagosned just after my brother had a seizure and got diagosned after having a FISH test my parents had their Fish test and my step mom didn’t have it but my father did. My mother doesn’t have 2q we have all been tested. Testing is key. However there is a controversial feelings towards testing because like you said no two people with it have it exactly alike. I didn’t have much wrong health wise until after I was tested and treated and that is simply because I didn’t know about it. I lived life like I was just like any other kid and I was even in advance classes. My daughter is a splitting image of myself and she has a mild form of cp on top of the 22q. It’s such a fight to get the 22q moms and adults on the same page that there isn’t a support group out there for me I don’t fit in. That’s ok I was born to stand out and that’s another reason I blog. I am glad I found your post today I would love to connect on social media.

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