We are Alison and Simon Cook, we have healthy identical twin daughters aged 5 and Ben aged 17 months with 49xxxxy syndrome (diagnosed at 5 days old) he was full term and weighed 4lb 10oz. I took Clomid (a fertility drug) to conceive Ben and would be interested to hear from any other mum who did so as I wonder whether there may be a link with this and the syndrome.
Ben is a very happy, sociable and fairly quiet little boy. He has a moderate/severe permanent hearing loss, which I am told is not linked to his syndrome. Ben's main problem is physical, he is only just starting to sit unaided and has extremely low muscle tone in his upper body. He was born with talipes (club-feet) and had surgery at a year to correct this, the surgeon said the operation went well, and he is now wearing splints, which he will wear for the next six months. He has just started to use a standing frame and copes with this reasonably well. He also only has one functioning kidney, he is on Trimethoprim to protect the good kidney from infection, but other than that it has not caused him any problems. He cut his first tooth at 16 months and is still on pureed food, he tries to hold the spoon, but his coordination isn't quite there. He doesn't have any words yet but will vocalize for attention, we are just starting to use Makaton with him, which he finds highly amusing, as he loves watching peoples hands moving. He also loves action songs and watching his sisters playing.Story Submitted by: Alisonvcook@aol.com
