Dysmorphic features reason for genetic testing?
my daughter has been diagnosed global development delayes, but she is having genetic testing for dismorphic features... will this result in a syndrome?
Jane ...
Answer:
Without knowing more about your daughter or her individual delays I cannot say. But I do know that it is routine to do genetic testing on children that appear dysmorphic, just to rule out any chromosomal or genetic cause.
An early diagnosis, if present can make an enormous difference in terms of starting therapies and good management. If she has global delays as well then this is an added concern, for you as well I would imagine. This is probably a very worrying time for you and your partner, are you getting some emotional support and guidance through a social worker or counsellor? You would be entitled to this I would think so make a point of asking for it if it hasn’t already been offered to you. Aim to be patient which I appreciate could be difficult. It can take time for chromosomal test results to come back and parents can really lose sleep over all the “what ifs”. So look after yourself and try to take each day at a time.
Best of Luck,
Jane
An early diagnosis, if present can make an enormous difference in terms of starting therapies and good management. If she has global delays as well then this is an added concern, for you as well I would imagine. This is probably a very worrying time for you and your partner, are you getting some emotional support and guidance through a social worker or counsellor? You would be entitled to this I would think so make a point of asking for it if it hasn’t already been offered to you. Aim to be patient which I appreciate could be difficult. It can take time for chromosomal test results to come back and parents can really lose sleep over all the “what ifs”. So look after yourself and try to take each day at a time.
Best of Luck,
Jane
Answered:
14 Jul 2012