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eczema & 22q11.2

cherylacurtis Message
15 Nov 2009, 02:33 AM

My son is 3 & has the 22q11.2 duplication. My husband is 39 & also has it. My husband seems to be fine. My son, however, seems to have severe eczema all over his body. We have been seen at Children's Hospital in Philadelphia by the Genetics Department as well as the Immunolgy/Skin Disorders Department. We have tried Dermatologists, Allergists & Chiropractic care. My son's skin never got better. His immune system is great. He has krup now, but before just a couple of days ago he went over a year or so w/no fever, colds, etc. A lil over a year ago, his eardrum ruptured & he never felt it and/or we never suspected that his ear was even infected. He does have food allergies, ie. Soy, Egg, Nut, Tree Pollen, Cat & Dog. His body does not react to antihistamines, Benedryl, Hydrogosine, Zyrtec, Claritin, etc. He has 2 older brothers who are 10 & 13. Both are very healthy and were never tested for the 22q11.2 duplication. The Genetist advised us to get them tested when they were ready to bear children. (At their ages, I hope not be in a position to get them tested any time soon!!!) If anyone else has severe eczema & would love to chat with you. I try to search pediatric medicine books, but it is hard to put the puzzle pieces together. Reese also was hypocalcemic at birth. He had seizures at 3 days of age & was in Pediatric ICU wherein a multitude of tests were conducted & the diagnosis of 22q11.2 was made. Sometimes, I laugh that he has a diagnosis of 22q11.2 duplication because --What does that mean? No one knows. I always thought it was great to have a diagnosis and/or know what was wrong. But, what is the sense of having a diagnosis when no one knows how to cure and/or help it. He is also in the 5th percentile for height & weight. He is 3 & weighs 27 lbs. His speech is not up to speed with a 3yr old, but he is very bright & motor skills are good. He was standing/walking by 10/11 months of age. He has great concentration. He does have a short temper, but he is also 3 & it is hard to really judge this. He has an aurical pit on his left ear, but his hearing is fine. He has a broad forehead, low set ears, and lil' minor abnormalities, but to me, it is not very noticeable. I would really like to know how I can help his skin. So please, if you have any similar information that you can share, I would love to hear from you. My email address is cherylacurtis@yahoo.com if you want to email me directly. Thanks & Good Luck.