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 22q, 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.
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.
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.
More in-depth explanations of what it is, the causes, symptoms, diagnosis, treatment, etc. can be found here.
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.”
I will never stop advocating. I will never stop fighting. I will never stop praying for advances in science and medicine. I will never stop trying to raise awareness.
We didn’t know about 22q, but we learned. It’s time that everyone does.
The most common genetic disorder
no one has ever heard of.