22q at the Zoo

 Today was 22q at the Zoo, an international event to raise awareness of the microdeletion of chromosome 22q11.2.  People from across the globe gathered at their local zoos in support for the 22q population. We, of course, took part in honor of our Dancing Queen.

 

The microdeletion of 22q11.2 is what I regularly call on this blog as DiGeorge's Syndrome or Velo Cardio Facial Syndrome.  DQ more classicly falls into the category of DiGeorge's Syndrome because her manifestations of the 22q deletion include the heart problems, immune problems, and hypocalcimia/hypoparathyroidism.  But, all of the syndromes are really just manifestations of the 22q deletion.

Over 187 different types of manifestations have been connected to the deletion of chromosome 22q11.2 and it regularly affects the following systems: heart, pulmonary, kidneys, GI, ears, eyes, facial features, endocrine system, immune system, teeth, and palate, and frequently causes learning disabilities and psychological problems as well.  Most people, if they exhibit any symptoms, only have a dozen or so that manifest over their lives.   So far, DQ has exhibited approximately 30 of the various manifestations and she frequently sees specialists to make sure new problems are not missed.  DQ has dealt with issues in all of the areas listed above, except psychological problems and her learning disability so far (if you can call it that), was late speech.

The 22q11.2 deletion is very common--the second most common chromosomal abnormality behind Down Syndrome, but some people believe it is just as common as Down Syndrome, just not diagnosed. At least 1 of every 4,000 people are born with the 22q deletion.  Today, we met with several families living with 22q deletion at the Detroit Zoo.  It was wonderful to see them and raise awareness. We did have at least one person ask about 22q, so we did our part.

Next year, we hope the event will be bigger and reach more people.