Frustrated

We had an appointment this morning with a speech pathologist. Our case worker wanted her to examine B's mouth since it has been noted that her mouth is always hanging open and that she has weak facial muscles.The appointment went well. She spent a lot of the time just looking at her features. She does have what's called a Moebius mouth, an abnormally high palate and her eye teeth are coming in severely angled. How in heck did I not notice that? She spent some time observing her eating and said that she was having trouble moving the food to the back of her throat, hence the "clicking" noise she makes with her tongue when she has food in her mouth. She asked that I present her food to the side of her mouth rather than in front (when feeding cheerios or puffs) so she will start to move her tongue around to chew her food etc. She observed that B's tongue never comes out of her mouth, which it doesn't. She wants me to place food on the outside of her lips so maybe she will start to use her tongue. I was asked to use a sippy cup that has a straw instead of the normal cup so that she learns to close her lips around something. We also have a horn to practice with that will encourage her to do the same type of closing of her lips. She gave me a list of facial exercises to do with her that also includes me using my fingers inside of her mouth. B never explores with her mouth or puts things in her mouth ever. Not sure if that's because she has poor hand eye coordination or why that is. She also asked me to start doing some basic sign language with her; eat, sleep, drink, more, all gone etc. I did ask her if she felt that she'd ever be able to talk given the problems she has with her face and she said that she saw nothing to indicate that she wouldn't talk eventually so that was good to hear. I would assume now we will add speech therapy to our weekly therapy sessions.

I also called the geneticist today to see if her blood work was in yet and she returned my call finally. Our conversation was short and left me feeling very frustrated. She said that her blood work came back normal although it was confusing. I asked why it was confusing and she said because so many of her features are symptoms of genetic disorders yet the tests they ran were normal. She then said this doesn't necessarily mean she doesn't have a genetic syndrome, it just means that they weren't able to detect it with the tests they ran. Wtf? I asked what that meant and she said she would discuss it further when we met with her in January. So I said well if she doesn't have a genetic disorder why does she have so many facial anomalies and she replied with well, she is who she is I guess. What kind of answer is that? She said she didn't have the results of the Storage disorder tests but if they were abnormal she would call me. I am confused by our conversation and wonder if there are more tests that can be done and the hospitals here just don't have that capability. Who knows. I don't know to be relieved or not, possibly we have ruled out a genetic disorder or we have ruled out any that would have been detectable by the tests they ran. Ugh.We will be seeing the Neurologist on Tuesday. My guess is he will be able to give us some idea of what we are dealing with and my list of concerns is long. Much of her problems are neurological ones and he will be able to explain her abnormal MRI which will be nice since I've read it only about a million times. I am worried about her eyes so I'm hoping he will ask the Opthamologist to see her sooner than January. This is so difficult. Not knowing and feeling like we are going around in circles. I hope that we get answers while meeting with the neurologist at Maine Med, and then with the geneticist, then we are sent home not knowing a thing. Then I have to wait to her how her MRI went, I have to wait to hear the results of her blood work, I have to wait to see a different neurologist. I have to worry that her hearing is ok, and I know she is going to need glasses and who knows what else done to her eyes. I pray she can see ok. And now her teeth are screwed up. Can I just cry now?