We had our appointment with neurologist #2 today, and it was a much better visit. She was much more thorough with Nolan's medical history, and had a clear sense of direction for the treatment of Nolan's central apnea. We also learned a few new things today- not that they are really "new" things, but confirmation of things we have always noticed with the little guy.
As far as the central apnea, we are on the right course. The MRI must be done first- to absolutely rule out a Chiari (even though this is unlikely) and to verify there is nothing amiss with Nolan's brain. She also agreed that a tonsillectomy was a good idea, to get rid of the obstructive component.
We did learn that central sleep apnea (CSA) is rare enough that there really isn't a standard treatment protocol for children with CSA following a tonsillectomy. We have two options- to forgo the Tylenol with Codeine in favor of regular Tylenol, or to try and obtain an apnea monitor for those two weeks from Pulmonary and keep the little guy on the codeine. Codeine is a respiratory suppressant, so it isn't really safe to have him on the medication without a monitor. The neurologist is going to talk to our ENT to plot a course of action.
We are going to wait a full three months after the tonsillectomy to have a repeat sleep study. This is to give Nolan time to heal completely, and for all residual swelling to dissipate. We will do the follow-up sleep study in early August, with a follow-up appointment the week after. If the central apnea is still there in measurable quantity, we will pursue artificial ventilation at night via V-Pap (a special version of biPap for central apnea).
As far as the rest of Nolan's symptoms, she does feel that another visit to genetics is warranted. We won't go back to the original geneticist, because he was completely off base.
Remember the worry about frontal bossing? Yeah. The neurologist confirmed that it is there. So we can add that back to the roster of symptoms.
Also, remember the head lag? She did a brief work-up and told us that he has some decreased muscle tone (hypotonia) in his arms and trunk. It is mild, but another piece to the puzzle.
I do have the name of a geneticist at Cleveland Clinic, and I think we'll attempt any further genetic work-ups there. We haven't had much luck at Buffalo Children's (CHOB).
For a brief re-cap, here's the "list of symptoms:"
Congenital moderate hearing loss
Posterior urethral valves
Failure to thrive (resolved)
Severe GERD
Mild Delayed Gastric Emptying (DGE)
Mild frontal bossing
Mild hypotonia
Elevated AST (liver or muscle enzyme marker)
Periodic temperature fluctuations
Periodic rash on trunk
Chronic otitis media
Severe obstructive sleep apnea
Severe central sleep apnea
Dr. Block called this "multi-system involvement," and does believe a syndrome is at play. The question is, which one?
9 comments:
That's a lot to think about! Keep pushing for them to find the syndrome. Sometimes it takes some pushing to get them to check for the right syndrome and it might help to do a lot of reading up because you might even find something the Dr.s will miss.
After Ben's CI surgery, we were given Tylenol with codeine, but we never used it. He did fine with OTC infant's Tylenol. So you might be able to get away with that. Of course, every kid was different, and older kids are sometimes more bothered by pain than babies (Ben was only 8.5 months at the time).
The problem with a tonsillectomy is that some children (not all) are in so much pain, they won't eat or drink. And the pain lasts for two full weeks- I guess the worst pain hits about day 5-7 (and that's when the danger of bleeding hits- when the scabs fall off). Some kids do better than others... we'll see how Nolan does, I suppose. Two weeks is a long time to have a kiddo in pain, though. Especially if he has to get readmitted for dehydration.
Leah,
Glad you got a doc that would talk to you like the intelligent person you are! The things you've been through...
So Nolan doesn't need an apnea monitor? (I'm thinking back to an earlier post of yours...) because he stops breathing, but he starts himself up again?
But regarding the tonsillectomy... the good news is that kids generally heal much faster than adults :0) I mean, if I were in your shoes I'd definitely have whatever equipment (V-Pap) was needed to have the OPTION of giving him the 'big drugs', but you probably won't have the stress of having to continue them for two weeks and worry about their effects on him.
True, the pain does sometimes get worse after the first couple days, and you're right about the importance of keeping hydrated. (I thought I was hydrated enough but wasn't... mild drama ensued.)
But enough about me...
You keep learning more and more, and you're doing a great job with your kids. Someday they will "rise up and call you blessed"!
Julie
I finally told the geneticist we weren't coming back. My son has moderate severe bi lateral hearing loss caused by an incomplete cochlea, ears that stick out, and his eyes are slightly downslanted (he also has long eyelashes which make the downslanted eyes look pretty darn cute) My genetics team was great and not condesending like that jerk you went to. At TCH, they ran every test for BOR, CHARGE, EEG, EKG, echocardiogram, renal ultrasound, CT, MRI, etc. He is developing normally (90th percentile height and weight) and is not delayed. The geneticist is out of answers for a possible cause at this point. Do I think he has a deletion on a gene somewhere? probably. I just don't know if they will ever be able to tie it to a specific syndrome or find the deletion. I do know that they ran down every option before they decided they have no clue. Your genetics doc just blew you off so you really need someone to consider ALL options and possible syndromes. Good luck!
Wow! A lot going on! It's so nice to have a doctor who is thorough and communicates well with you. I hope you are able to come away with some answers. As good as our medical technology is, everything is still not known and sometimes that's hard to take. We'll be praying for you.
If you get the chance to comment on William's blog, I'd appreciate it. My daughter needs some help with a movie she is making.
I'm glad you're finally finding some helpful docs. Not knowing would drive me insane.
Nolan has many of the same symptoms as a friend's son who has CHARGE. But he seems to be missing some of the major indicators for that. What a mystery! Hope genetics can help.
It is definitely a lot to think about!
Julie, I'll write more about the apnea monitor thing in a separate post. The short answer is: no. His arousal mechanism is working OK, and being woken up 20x per hour would cause us all to go crazy (for no real gain). I *heart* this neurologist- she is really wonderful (and gave us a personal phone call this morning).
Monica, there are so many syndromes out there, and Nolan doesn't seem to fit precisely into any of them! He lacks the choanal atresia and developmental delay of CHARGE syndrome, so that is probably out of the picture (and I'm not quite sure if central apnea figures into CHARGE). It does drive us nuts- not so much for the current symptoms, but we're always worried about what is going to show up next.
Wow Leah. I am SO glad you finally found someone who is helping you all get to the bottom of this and pushing things along. The right person makes a world of difference. Cleveland Clinic is FANTASTIC and hopefully you have better luck there than your previous location. If you do go, we'd love to meet you all!
I've heard too, that the tonsillectomy can be quite painful. Looks like your doctor is on the path of finding the best solution for Nolan!
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