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November is Awareness Month

by Summerly Rowlands

November is 22q11.2 deletion syndrome awareness month!

22q11.2 deletion syndrome is the second most prevalent genetic disorder following Down syndrome. The disorder occurs when there is a missing portion of the 22nd chromosome which can affect every system in the human body.

Efforts are being made to raise awareness for 22q11, but the syndrome is nearly unheard of. About 1 in 4,000 children are affected, but often times the diagnosis is delayed or missed entirely, which leads professionals to believe that the numbers are even higher.

22q11 is also known by other historical names depending on the specific symptoms such as DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and Shprintzen syndrome (to name a few).

More in-depth explanations including definition, causes, symptoms, diagnosis, treatment, etc. can be found here.

Awareness and detection of 22q11 is critical for intervention & outcome – not only for the affected individual, but also the family. This diagnosis can be life-altering, so the more people know, the better. Medical personnel can also increase their knowledge and understanding of this diagnosis, as it dawned on us while our daughter was in the hospital that there seems to be a lack of information regarding this syndrome. While a specialist like the geneticist could help answer our questions about Izzy’s diagnosis, some of her other doctors only had knowledge of their own treatments and very basic understanding of DiGeorge syndrome with almost zero awareness of the technical term 22q11.2 deletion syndrome.

In fact, when we were given the lab results confirming DiGeorge syndrome, they sent in a resident to tell us and she began her sentence with, “Good news!” and then continued by saying, “We got the bloodwork back sooner than we thought and it does look like she has DiGeorge… let us know if you have any questions!” Because the suspicion was already there for us, Izzy’s dad and I had done our own research, and clearly knew the impact of what she was telling us much more than she did, so we blankly stared at her and said, “Okay, thanks.” And she walked out.

With the help of professional & personal websites, knowledge-based articles, free resources, non profit organizations, fundraisers, educational events, and word of mouth, 22q can be talked about and learned about, as it should be.

The diagnosis is complex. The obstacles that may have to be faced are complex. The support that is required for treatment is complex. But these children are worth all that it takes.

Become aware. Become an advocate.

My aunt said to me during our hospital stay, “While you certainly couldn’t have foreseen everything you guys would experience in these past weeks, I hope you realize how much you’ve already helped Izzy by making yourselves so educated and informed and being the biggest and best advocates she could ever have.”

We didn’t know about 22q, but we learned. It’s time that everyone learns.

The most common genetic disorder
no one has ever heard of.