Who knew about 22q?

In my previous post, I talked briefly about 22q11.2 deletion syndrome. I hope I can explain a little more about it, and make more people aware of it's existence.

The many faces of 22q11:

"What you are not seeing, are the features that make life with 22q11 so challenging."

And this summarizes exactly why more people need to know about it. When you encounter a person with Down syndrome, most people know more or less know what to (not) expect. With 22q11, even if you know of it's existence, it's usually not immediately apparant that there is anything "wrong".
That being said, I really do not intend to compare different syndromes or medical conditions, but I hope I made my point.

People with 22q11 can have many possible symptoms and combinations thereof, ranging from mild to very serious. There's also a combination of mental and physical conditions involved.
Children with 22q11 usually have a below-normal IQ, delayed development, and delayed language acquisition, amongst many other things. Some can attend normal schools, but others need specialized forms of education (like my son). Adults have a high risk of developing mental disorders, such as psychosis and schizophrenia.

Wikipedia:

"The signs and symptoms of 22q11.2 deletion syndrome are so varied that different groupings of its features were once regarded as separate conditions. These original classifications included velocardiofacial syndrome, Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal anomaly face syndrome. All are now understood to be presentations of a single syndrome."

Rough estimations say 1 in 2000 babies are born with 22q11, but some researchers and doctors actually think the syndrome may be just as common as Down syndrome (1 in 1000). The technique to detect the 22q11 deletion is relatively new, and as many doctors don't know of it's existence, a lot of cases probably go undetected. I actually asked around our local health center and just one (!) of about 12 doctors I spoke to knew about the syndrome. It might give you an idea of how many cases might go undiagnosed, which makes the lives of the affected people (and their families) unnecessarily difficult.

If you have some spare 10 minutes, I encourage you to watch this:

And as for me; What did I learn so far? I learned to be less judgmental about people with mental challenges. These people struggle with simple things I myself take for granted. They are in many ways so much stronger than me, and I can have nothing but a lot of respect for that.

Thanks for reading!

Brgds and Steem on!