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Childhood-diseases

Question
Posted by: Laney | 2004/01/06

Q.

recurrent fevers

My 8 mnth old son has chromosomal abnormality (inv. dup. 7q11-22) that is so rare there is only 1 other case worldwide. He keeps getting extremely high temps and was floppy the other day. He is currently in hopsital and they are having controlling his temps. He is either spiking really high or dropping very low. He has a really red throat and cold like symptoms. His blood tests are saying that he has no infections and that his white cell count is low. He is very sleepy (more so than any other time he has been ill which seems to be happening on a monthly basis). His appetite is decreased and he cannot afford to lose weight as he is way behind as it is. His right temple was bulging when he was admitted to hospital and covered in heat rash but the Dr's kept ignoring me bringing their attention to it. I am starting to worry that something serious is going on but how do I suggest further testing without sounding like a neurotic mother? Could there be something I should be worried about?

Expert's Reply

A.

Paediatrician

With this rare chromosomal disorder your child should be under the care and supervision of a specialized team of doctors that includes a genetecist. I am not familiar with this condition, but it will be important to distinguish infection and other diseases from manifestations of the genetic abnormality itself. I am sure your doctor will understand your concern and discuss his plan of action with you.

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