Monday, March 19, 2012

DiGeorge Syndrome Symptoms

"Hey Dad, I just threw everything on the floor"
        DiGeorge Syndrome symptoms are usually pretty suttle and are not  recognized until later in life. But there are some  very obvious symptoms that are apparent at birth. Before doctors would take each symptom and give it a separate condition. But the root of  all these conditions is the partial deletion of chromosome 22. Hence-22q11 deletion syndrome. There are, what I call slang terms, to call this syndrome, but DiGeorge Syndrome is the common name, some others are-
  • VCFS
  • CATCH22
  • Cayler cardiofacial syndrome
                    DiGeorge Syndrome symptoms vary for each individual. For my son Luke, the most obvious symptom  were  the holes in his heart, a cleft ear, and also he has a third nipple. I don't know if this can count as a DiGeorge Syndrome symptom. It doesn't seem that common, but you never know. from what I have read, DiGeorge Syndrome effects 1 in 4000 people and the numbers are probably more because of the symptoms being so varied. But here are some of the most common symptoms for DiGeorge syndrome.
  1.  Heart problems. [One of the more prominent symptom ]
  2. Facial disorders. [Cleft pallet-nasally voice, cleft ear [Luke had]
  3. Low T-cell count
  4. Hearing problems
               These  are the most obvious symptoms, some of the rest of the symptoms are found out as the person matures.
  • Learning Disorders
  • ADD
  • immunity deficiency
  • Behavioral Problems
  • Mental Illness
               Remember, these are only a few of the DiGeorge Syndrome symptoms. Also it is not usually hereditary. If you need more information on DiGeorge Syndrome, I left a link in my Discovering DiGeorge Syndrome post that is an excellent resource. There also is an awesome forum wee went to that is specifically for DiGeorge syndrome. The people are going thru the same experience with DiGeorge Syndrome and answered questions and supported us morally to with sharing their experience with us . I suggest you check it out.

Meet The Family!

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