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4q12 deletion

lmcb_1978 Message
12 Jul 2010, 03:01 PM

Hello everyone. My son, Christian, was diagnosed with a 4q12 deletion. The only thing I know about this is that he's missing his entire 12th band on his 4th chromosome. Christian is 22 months old. He was born with polycythemia, his body had way to many red blood cells and his kidneys were not filtering them out because the hospital staff and I could not get him to eat anything. He had a very hard time latching onto nipples. I think I tried over 10 different styles of nipples before we found one that he could take some from. His lower jaw is very small and his palette is high. Once the feeding problem was handeled he started to gain back the weight that he lost and we thought we were good to go but then something else popped up, he had torticolis, his head was turned and laying on his shoulder. So then we started physical therapy for that and now its all better. Then at a typical doctors appointment his doctor informed me that his skull had shot up the chart drastically so off to a neurologist we went. A CAT scan confirmed a mild case of hydrocephalsis...I hope Im spelling these right..lol...anyway, to much fluid surrounding the brain. Thank god that its mild and doesnt require a shunt at this time. Christian was late for every milestone, he just started walking at 19 months. His pediatrician sent him to a orthopedic doctor because his legs and feet are turned out. X-rays confirmed that his hip joints are turned out and that his legs bones are twisting and his feet bones aren't formed right either, he walks on his ankles instead of the bottoms of his feet, we are looking at braces. Christain says about 5 words...mom, dad, bye, baba and stop. We are trying sign language, he can tell me when he wants something to eat and when he wants more. Christian is short for his age and under weight. 18 month shorts fit him around the waist, loosely, but look like pants on him. I am just waiting for the next hurdle to jump. I havent been able to find out much about his deletion and I would like to talk to other parents who are going through the same thing. Christian does have several gains on his chromosomes also. I have no idea what those mean for his outcome either. His gains are on his 14th, 15th and 22nd chromosome. Some are very high copy gains. Im on Facebook if anyone wants to be friends. Look for Lavonna Bush. Look forward to hearing from you.