[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by lisa wells on 1/6/2008, 4:02 pm, in reply to "Chromosone 22q11.2 Duplication"
195.93.21.3
Hi my son who is 10yrs also was diagnosed last summer after ever since he was born having problems...under weight,would'nt feed,always vomiting,developmental delays,learning disabilities,sleep problems,and now permantly chesty/ill/tired/weak...its good to talk to someone who understands...please email me,lisa wells
--Previous Message--
: 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"!
:
Message Thread:
« Back to thread
Visit our home page, http://www.nt.net/~a815/chr22.htm