22q11.2 Deletion Syndrome
November is 22q awareness month! Our son, John, our 22q Cutie, recently wrote a short story and has asked me to share it. He’s quite proud of it and should be! The Unknown Trail is about four friends on an adventure. You can check it out here.
22q11.2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome. This tiny missing portion of chromosome 22 can affect every system in the human body. 22q can be the cause of nearly 200 mild to serious health and developmental issues in children. It is often times not diagnosed or recognized as the cause of a child’s health and/or developmental issues for years. It is believed to be the second most common genetic disorder behind Down’s Syndrome, yet most have never heard of it! Because each person diagnosed with 22q presents a unique set of the possible 180+ symptoms, it is difficult for even the best doctors to recognize. Many times, this scattered collection of issues impedes the proper diagnosis for years. This knowledge has yet to catch up to the general public or health care professionals. This leads many to believe the 1 in 2000 to 4000 estimated number of children born each year with 22q, is likely a gross underestimation of the actual numbers.
You may be surprised to learn that the issues most commonly linked to 22q are among some of the most commonly recognized health issues for newborns and children worldwide. This list includes but is not limited to the following: growth delays, feeding problems, congenital heart disease, gastrointestinal difficulties, serious breathing concerns, cleft and craniofacial issues, calcium deficiencies, immune deficiencies, kidney problems, and skeletal anomalies. This list also includes the possibility of speech, developmental and cognitive delays, as well as ADHD, Autism and many anxiety-type disorders. Early diagnosis of 22q deletion syndrome is the key to properly addressing all 180 issues which can be associated with the disorder.*
