[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by cheryl curtis
on 1/30/2007, 1:02 pm
70.21.249.233
My son has a duplication of the 22nd chromosone. We found out when he was 5 days old and was having seizures. The seizures were caused by low calcium (.85) and high phosphorus. He had an MRI, Cat Scan, Spinal Tap, ECHO, EKG, EEG and various blood tests, all of which were normal or negative. His Phish test said that he possibly may have digeorge syndrome. The Genetists have ruled that out because he has no characteristics other than the duplication of chromosone 22q11.2. He has no facial distortions, his heart is perfect as is his brain. The endocrinologist has put him on calcium (which he is now off of), Vitamin D (one drop) and Similac PM60/40 which is a hypocalcemic formula. He is on phenobarb cause of the seizures but the EEG came up normal. I have been to my pediatrician, endocrinologist, immunologist & neurologist. My child looks "normal" and all the tests are "normal", is there anyone out there that has a duplication of the 22nd chromosone who's child is "ok"!
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