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rare syndromes
Oct 10, 2008 12:02AM in the Neurology Community
my daughter has a rare syndrome with so many complications,has anyone heard of 22q11.2 deletion syndrome? ive been searching for so long for answers and im so afraid there isnt any...anything at all may help.with thanks a desperate mum
can megacolon lead to hirschbrungs disease?
Oct 08, 2008 01:44PM in the Gastroenterology Community
does anybody know if megacolon can develope into hirschbrungs disease?
AM I THE ONLY ONE
Oct 07, 2008 02:10AM in the Genetics Community
hi rose,my name is lisa,you are definitley not on your own,i too have been searching for answers for my daughter,although its not di george syndrome,my daughter has goldberg and shprintzen syndrome which can sometimes be confused. they are both 22q11.2 the same genetically.if you need any information or just want to talk please do not hesitate to contact me. ...
delayed child no diognosis
Oct 07, 2008 01:24AM in the Children - Special Needs Community
hi,im just going from personal experience,but my daughters have a rare genetic syndrome called goldberg and shprintzen megacolon. 22q11.2 deletion syndrome.hirschbrungs disease is a factor of this,(cause of constipation)as well as short stature and learning difficulties.there are other symptoms and they all vary. maybe you could ask your doctor to do genetic ...
Dr said my baby has a chromosone problem
Oct 07, 2008 01:06AM in the Genetics Community
hi mandi,my name is lisa,i too have been through such emotional times and its heartbreaking,my thoughts are with you and your family. i lost my daughter aged 4 12 years ago and we didnt know she was poorly till she was born.its the hardest thing anybody has to go through in life. my daughter now maria is 14 and she too has the same rare syndrome and is gradua...
please remember people there is a family going through a tough time while you battle it out to see who knows the most.
Oct 07, 2008 12:48AM in the Child Behavior Community
im lisa,marias mum,im new to this,i think i clicked on a discussion and it had finished. cant think straight at the momment to be honest, thankyou for your kindness and warm wishes they mean a lot lisa