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I received a call 2 mornings ago as I was walking out the door to take my 19mo son to his physio/speech/OT appointments. It was his pead, calling to tell me that the results had come back from his last lot of tests and it showed a deletion of information on the long arm (q section) of his 22nd chromosome. This would explain why he is so small (about the size of an average 10-12mo), his head circ hasnt increased (and is very small but looks in proportion to his body luckily!), he was delayed in holding his head up, sitting, he doesnt crawl (became a bum shuffler at 15 months), doesnt walk or even talk. All of this is explained by the syndrome. He is now living in the third state since he was born, which they tell me has made it difficult to diagnose, but I think they are using that as an excuse, as I have always pushed as I have known something was wrong. He has also always had feeding problems among other things, but everyone has said he is just delayed. The last pead we saw (the one we are seeing now is our second opinion) said he was just lazy and would walk when he was ready, he is a baby and will develop in his own time. If you ever have someone tell you something that you dont agree with, seek a second opinion. If we hadnt, we would still have a “lazy” child and wouldnt have access to more services to help him develop. Ive taken it pretty hard, as I am pregnant with our second child and my husband is away on deployment, so Ive had to deal with all of this on my own. We have only been in this location for 4 months so I havent made any friends to help me. Luckily this posting our families are now only 4 hours away and my parents and inlaws have called after every appointment

Posted anonymously, 22nd March 2014

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