UPDATE: The pediatrician did refer out to audiology after checking to make sure there was no fluid. They said it could be nothing, but we need to have it checked out. I'm praying that it's nothing. We also got the dates set for the EEG and MRI. Our upcoming appointments are 6/4 (Gastroenterology), 6/16-18 (Admitted to the hospital for EEG and MRI), 6/23 Audiology, 6/26 Pediatrician. We are also still waiting on the results of the genetics tests before our next appointment with them is scheduled, and we'll hear from the neurologist I guess after we go in for the EEG/MRI.
I thought things were hard before, but apparently I had no idea what I was talking about. I'm starting to get really -really- worried, because it is sounding like there could be something seriously wrong with his brain. Before, we knew about the 4 oral midline defects he had (ankyloglossia, maxillary tie, micrognathia, and high arched palate), slow weight gain, seizure issues (post-episode neuro exam showed weaker reflexes on left side), a persistant rooting reflex, and some issues with his legs. Aside from the seizures, none of it really had a HUGE impact on anything, because I wasn't sure how much was a real "problem" and how much was just how Noah was. Tuesday's appointment made me realize a lot.
We went through the family history and discussion of what exactly is going on with him. Then the neurologist ran through the exam. Hyperreflexia (reflexes too fast), Hypertonia (abnormally high muscle tone), Frontal Bossing (unusually prominent forehead), Cortical Thumbing (predominantly in the right hand, basically his thumb pretty much stays curled in against his palm), Fisting (hands typically stay in fists), Tight heel cords (his Achilles Tendon can't stretch far), Anomalies of Skull and Facial Bones.... holy crap. I damn near had a breakdown in the office. How did I not pick up on all of this before?! When I thought about it, I realized that his hands are nearly always balled about. I can't even clap his hands together for him, like I could with Izzy. He grabs for something, it's with his fingers, his thumb is always "closed".
Paired up with the seizures, we are looking at a TON of questions. The neurologist is working on getting a pre-authorization for him to be monitored in the hospital epilepsy unit to try to catch a seizure on 24-48 hour video EEG and to get a sedated MRI. We were referred to Early Intervention for the neuromuscular stuff, and he will likely need PT and OT at least.
Now, for the kicker. While thinking about the thumb thing, I realized something else. I already called the pediatrician and we are bringing him in in the morning, but we are likely looking at a referral to audiology. I don't think he can hear. He will coo and smile when you talk to him if he can see you, but not if youre not in front of him, you get nothing. We honked a bicycle horn a few feet behind him, and not even a flinch. No startle. No head turning. Nothing.
I don't even know what to say. I can't think.
Isabelle born via emergency c-section after her heart stopped 04.29.10
asthma, astigmatism, amblyopia, allergies, tongue and maxillary ties
Noah born via RCS 12.09.13
14q11.2 duplication, receptive language and adaptive behavior delays
multiple health concerns under evaluation
follow him here: www.facebook.com/lovefornoah