Guest guest Posted March 6, 2003 Report Share Posted March 6, 2003 Hi April, Meg Hefner, genetic counselor here. I've been following the information on Zoey and thought I should pipe up. I usually wait until parents have sent messages, as they know lots and lots about CHARGE and are often the best at passing on relevant information. Making a diagnosis of CHARGE is not as straightforward as it might seem. In fact, I have just this week been involved in further discussions about what a child must have to get a diagnosis of " definite " CHARGE. The bottom line is to have definite CHARGE, a child has to have two of the four " major " features. Those major features are Coloboma Choanal atresia Cranial nerve abnormality (facial palsy, lack of smell, and/or swallowing difficulty) Characteristic CHARGE ear Only about half of children with CHARGE have choanal atresia or stenosis. Stenosis is just narrowing of the passages (and it can be one-sided) - that can be VERY difficult to detect in some cases. Facial palsy and swallowing problems are usually pretty obvious, but lack of sense os smell can be extremely difficult to determine in someone who is not yet communicating. Based on what you have said so far, I would keep Zoey at least in the " probable/possible " CHARGE category - meaning she should be carefully evaluated for potential features of CHARGE. Probably the most important thing to check out that you haven't mentioned is kidneys. 30-40% of kids with CHARGE have something going on with their kidneys - some more serious than others. What geneticist did you see, at what medical facility (where do you live)? Has Zoey ever had feeding problems? Does she have facial palsy? I would love to see photos - of face and ears, especially. Actually, everyone likes to see photos - you can post them at the yahoogroups site (they won't come through to the listserv - attachments are deleted due to virus concerns) or you could send them directly to me at meg@... No matter what any geneticists say, if this list and the CHARGE Foundation are helpful to you, stick with us. And with colobomas and hearing loss, I can almost guarantee this CHARGE family will be helpful for you. Let me know if you have other questions for me. And welcome to you and your family! Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.