22Q at the Zoo

This past Sunday, my family and I joined hundreds of others all across the globe in raising

awareness for 22Q!

It is so dear to our hearts because our oldest daughter, Caitlyn has 22Q…also known as

DiGeorge Syndrome (DGS) or Velocardiofacial Syndrome (VCFS).

We have been so blessed in the fact that our Catie is quite healthy

considering she has the syndrome.

We had a beautiful day and feel very thankful for all those who came out to support

Catie and raise awareness!

What is 22q?

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22.

The deletion occurs near the middle of the chromosome at a location designated q11.2.

How common is 22q?

22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mistaken for other disorders with overlapping features.

What are symptoms of 22q?

22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family. Common signs and symptoms include heart abnormalities that are often present from birth, an opening in the roof of the mouth (a cleft palate), and distinctive facial features. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system, and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease in which the immune system attacks the body’s own tissues and organs. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones.

Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and learning disabilities.

http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome

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