Hi, thanks for the advice. I called them last week to get an update, and of course to nosy around, but they were really tight lipped about it. They know she is going to be evaluated next week for Rett Syndrome, so they opted not to look for mutations on the Mecp2 gene. All that they would say, was that they are looking for large deletions through out the DNA. I wish they would give some sort of clue. Because Rett Syndrome is another rare disorder, when I mention it to doctors, I always get this look from them, and the question follows, "Why would you think she has that?" Like I want my grand daughter to have a problem or something. They like to ask the questions, and then they don't like to give any answers. If I am on the same page as them, because I have done my homework, that makes them even more indifferent to me. They all like to be the first one to discover that your kid has a problem, but at first they will spend months denying that anything was wrong.
It is truly frustrating. If I mention a "problem" the red flag will go up, and then they minimize it. And this is in Maryland...the land of Johns Hopkins! We have Dr. Hamosh working on her genetics, and she is the only one right now, that I have any respect for. But that could change if she flakes out on me.
The GI is scheduling a swallow study because she doesn't eat much. She had lost three pounds last week. She is below the 5% in weight, and has always had trouble with drinking formula and eating baby food. She really wants to eat, but it hurts her, and she then rejects the food. She has never been able to eat course or lumpy baby food, and has a difficult time even chewing and swallowing pieces of really soft bananas. She doesn't drink juice or water, because she chokes on it. She likes the way it tastes though.
The GI doc. is waiting on the geneticist. They are curious to know the findings. If nothing comes of the testing, I will talk with the GI about CS with her.
Thanks again.
It is truly frustrating. If I mention a "problem" the red flag will go up, and then they minimize it. And this is in Maryland...the land of Johns Hopkins! We have Dr. Hamosh working on her genetics, and she is the only one right now, that I have any respect for. But that could change if she flakes out on me.
The GI is scheduling a swallow study because she doesn't eat much. She had lost three pounds last week. She is below the 5% in weight, and has always had trouble with drinking formula and eating baby food. She really wants to eat, but it hurts her, and she then rejects the food. She has never been able to eat course or lumpy baby food, and has a difficult time even chewing and swallowing pieces of really soft bananas. She doesn't drink juice or water, because she chokes on it. She likes the way it tastes though.
The GI doc. is waiting on the geneticist. They are curious to know the findings. If nothing comes of the testing, I will talk with the GI about CS with her.
Thanks again.