Re:CHARGE Syndrome link

[Guest guest]

Thanks for the link on CHARGE. When Sara was hospitalized at 2 weeks old

they did some testing for syndromes associated with coloboma, and CHARGE was

one of them.

I have recently switched her care to the U of Michigan though, and would like

to have all the tests re-done.

I was not very comfortable with what her previous doctors were doing for her.

We have had problems ranging from with-holding information from me

(they didnt want to make me worry about " small details " ) to finding out that

the cardiologist she was seeing isnt even allowed to perform procedures

anymore. (Needless to say he no longer sees Sara)

and also I have grown weary of the " wait and see " approach, when everything I

have read says early intervention is the key.

anyhow......in reference to the CHARGE....do you know if someone has to have

all of the syptoms for that to be the diagnosis?

Sara does have the coloboma, VSD, swallowing issues and the developmental

delay..........but she has no urinary or genital problems.

not sure about the rest.

anyhow....thanks for the link

tami

[Guest guest]

Hi again, Tami,

Here is the link for the CHARGE Syndrome Foundation, Inc.:

http://www.chargesyndrome.org

I hope you find the website of interest.

Best wishes,

[Guest guest]

Tammy-

Here is another source of info on CHARGE syndrome. Also, a list of

syndromes with Coloboma and a list with Coloboma and VSD.

http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?214800

http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/eye/coloboma.htm

http://www.ncbi.nlm.nih.gov/htbin-post/Omim/getmim