Saturday, January 5, 2008

Worried About Syndromes

Dealing with hearing loss can be difficult in and of itself, but there are several syndromes which have hearing loss as a symptom. From birth, we've been a bit concerned about Nolan's forehead shape, which seemed to have "corners" and was flat in the front. The pediatrician and ENT never noticed it, so we thought perhaps he would grow out of it, or that it was a minor thing that didn't merit attention.

As he's grown, a silent terror has grown inside of me that something else is wrong with our little boy. We are in the beginning stages of the diagnostic hurdles, and have many doctor appointments scheduled in the coming week. On Monday, I will discuss my concerns about head shape with his pediatrician. Instead of becoming less noticeable, Nolan's forehead is protruding more. I am concerned about craniosynostosis, which can be found with hearing loss. Most of the syndromes including hearing loss and craniosynostosis have other features (such as webbed fingers and/or toes), but I am concerned nonetheless. I have a first cousin who had craniosynostosis as a baby (surgery corrected it at one month of age). This condition is usually dominant, though, and neither Dennis or I ever had it as infants.

Here is a picture of Nolan with his Grandpa on Christmas Day- you can see how elongated his head is becomming:


We will have to wait and see what the pediatrician says on the 7th, and/or what the ENT says on the 9th. He has to have a CT scan for the hearing loss, anyway, so I am hoping they do a cranial X-Ray to make sure the sutures in his head haven't prematurely fused.

My heart will skip a few beats until we get a few more answers. Knowing is always better than not knowing. And I fear for my little guy.


Anonymous said...

Hi there,

I'm Heather (Ethan's mom) and I saw your post on Listen-Up and came over to see your sweet little guy. I wish that I could say something that would ease your anxiety. I know of a another blogger that has a daughter who has/had craniosynostosis if you want to check her out it's at:

Ethan's hearing loss (bilateral profound snhl) was diagnosed at 3 months and at the time it never occured to me that it could be part of a larger syndrome or virus. Finding out that it was due to cmv was like getting hitting by a truck and made the hearing loss seem like no big deal. The fact that you are so on the ball at such an early age is something to feel good about.

Best wishes to you.

Loudest Mom said...


I remember going through the sydrome guessing game also. We knew early on that Delaney had LVAS. They also told us it typically wasn't genetically based. Four kids later we now know that is not true, and that the kids probably all have Pendred syndrome. I did so much early research on genetic causes of hearing loss, and had similar fears over all the 'scary' syndromes out there. Hang in there, and just keep grabbing as much information as you can, to bring up at your appointments. Also try not to get to scared by some of the different syndromes out there (and yes, I know it's almost impossible). ARe you doing any genetic testing?

Take care,

leahlefler said...

We will be doing genetic testing, but haven't seen the ENT to set anything up since the first diagnostic ABR back in October. I have an appointment this Wednesday, so we'll probably set up the CT scan and genetic testing. I also have a well-baby pediatric visit on Monday, so I'll bring up the cranio concern there, too. Of course, the car is acting wonky and my husband's in a different country! When it rains, it pours!

I guess we just take things one step at a time, and the next step is talking about it with the pediatrician. It can be scary, but it is so much less scary once you know what you are dealing with! I'm off to check out the blog regarding the little girl with cranio. One thing at a time... one thing at a time...