hi my name is lisa and my thoughts are with you and your family. i have a fourteen year old daughter who has an extremely rare syndrome called goldberg and shprintzen megacolon.over the last two years she has become gradually worse and has developed more symptoms.she has a rare centronuclear myopathy and a 9mm cyst in her spinal cord,she has ophthalmolplegia and now she has developed a chronic megacolon.it is a genetic syndrome of only 15 known cases in the world.22q11.2 deletion.she has learning difficulties and is struggling with walking and just getting up from a chair.there are so many other problems she has and she is incredible,she probably copes better than me,her name is maria.
12 years ago i my life was devestated by the loss of my eldest daughter charley ann who was 4 years old and had the same genetic syndrome.she had a serious heart complication and she never woke up after surgery to try to make her her well.she also had many other complications including hirshbrungs disease which she suffered so much with and that they didnt find until her post mortem,not one doctor even considered hirshbrungs and she saw a hell of a lot of doctors.i was out of my mind,but i was younger and naieve.i am forever searching for answers for my little girl and i just cant find any but i will never give up,
there are so many genetic syndromes all with different symptoms and problems.it may be somehow connected.or may not.but i sincerely hope you find the answers your looking for and i wish you sincere best wishes and good health
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