December 2013 Moms
zonastar23
member
UPDATED: Neurology Appt Update - Not great news
zonastar23
member
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.
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
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
This discussion has been closed.
Re: UPDATED: Neurology Appt Update - Not great news
Wow, that is a lot to deal with. I can tell how much you love him though, and through everything that is what is most important for him to see.
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
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
Maybe the hearing thing is the basis for some of the other issues? I hope you can get some answers soon!
TFMC 08.02.13 at 19+ weeks. Everyday I grieve for my little Olive.
I hope you get some answers and you can get the right kind of help for him. It sounds like you're on the right track.
You already know this but Noah is an amazing little boy. He is perfect exactly the way he is. And he has a loving family who will do anything for him and that will get him far.
We are all here for you. Give that sweet little boy some hugs and kisses from me and from all of us!
BFP#1 1/31/12, EDD 10/6/12 Harrison Gray born sleeping @ 18w6d. You changed our lives little guy.
BFP#2 EDD 10/29/13, C/P 2/25/13, Bye little Ish, we barely got to know you.
BFP#3 EDD 12/21/13, Baby Boots born 11/23/13 My rainbow baby!
January PAL Siggy Challenge: Good Advice
"Happiness is like a butterfly; the more you chase it the more it will elude you but if u turn your attention to other things it will come & sit softly on your shoulder."
BFP! 04/26/11 - DS born 12/28/11 - BFP #2! 04/02/13 - DD born 12/11/13 -
My Ovulation Chart
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
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
Ugh, I'm so sorry. I hope they can find some answers for you soon!
Sebastian: March 3, 2010
2nd Tri Angel Baby: November 2012
McKenna: December 2, 2013
Me: 31 | DH: 33
DS1: 12.23.13 | DS2: 05.06.16
BFP: 06.30.19 | EDD: 3.9.20
TTC3: 11.18
BFP: 02.05.19
CP: 03.07.19
*really traumatic recovery*