Saturday, February 9, 2008

Geneticist- More Questions than Answers

After getting to see the geneticist (who must have been nominated for the "world's worst bedside manner" award), we're left with more angst and questions than anything else. Nolan, in addition to hearing loss, has an atypical face. His mid-face is recessed a tad, his forehead protrudes slightly, and the back of his head has become wide and flat. Our ENT was duly concerned and sent us to the geneticist as quickly as possible.

The geneticist walked in and asked if I had any concerns. I told him that I wasn't as concerned about the hearing loss, but the frontal bossing was making me a bit worried. He rolled his eyes and asked where I had heard that term. I had to remind myself not to let him know that I worked as a biochemist in an in vitro diagnostic plant specializing in molecular diagnostics. This really tends to set these guys on edge. I simply said the ENT had called the protruding forehead "frontal bossing" and that it might be an issue.

He went on a mini-tirade about how severe "real" frontal bossing is and that we should be shown pictures of children with severe facial deformities. I was taken aback- all I know is what the ENT had told us, and that was that Nolan's head did not have normal characteristics. He said that Nolan was a beautiful face and said that his head stuck out because he had a big brain on top of delicate bones. Adjusting to the third grade level terminology, I asked if his "delicate bones" would recover normal structure as he got older. The geneticist was evasive and said people with delicate bones looked younger longer. That midface hypoplasia made their faces cute. When he let the word midface hypoplasia slip, I thought, 'how can you say "normal face" in one sentence and then "midface hypoplasia" in the next???'

He then went on to say that kids with real frontal bossing can have mucopolysaccharidosis (DON'T google it. Trust me). He asked if Nolan had a big head. I said I had no clue. He then measured it, and said big heads must run in our family. Then he took off Nolan's socks and looked at his toes and said, "no webbing." Gee, like I wouldn't have said something about THAT if he had it! He looked in his eyes for a long time, and that was it. He said Nolan was a normal baby and he'd order the tests. Then he left.

I have no idea exactly what tests he ordered (when I asked the genetic counselor she said, "you know, tests for those recessive genes for deafness"). Thoroughly frustrated, and still having no clue what could be a problem when he has "midface hypoplasia" and reverse-slope hearing loss, I was far more stressed out leaving the office than I was when I walked in. My wonderful husband is going to call the office to see what tests they are going to run, so that I don't have to wait for the approval (or denial) by the insurance company to find out.

This doc definitely wanted to pat parents on the head and not worry their silly little selves about anything. Egos like that drive me crazy. Our ENT is one of the best in the nation, and she is always forthright and seems to truly care.

Now I'm stressed that the geneticist is overlooking a syndrome, or suspects a syndrome and isn't telling me. Is it Hurler's? If so, it would be better to know now. Is it Stickler? Is it non-syndromic and he just has a funny head? Again, better to know now. I'd rather know what I'm up against than to be led along the path to diagnosis blindly.

In the meantime, we have to wait for about 2 weeks for insurance to either approve or deny the blood tests. The tests are then sent to Boston for processing, so we won't have the results back for some time. Even then, a negative on all the tests doesn't mean that Nolan's hearing loss isn't genetic. It just means it isn't one of the genes they are testing for (though I have no idea what those are).

Our CT scan is on the 18th of March, and that may tell us a lot about his head and face. I also see the ENT on the 2th of February to see if the fluid in his ear has cleared up. He has a nasty cold and ear infection now, so things aren't looking good for the whole fluid-in-the-ear thing.

I'm really not good at waiting. Especially when I don't know what the next step is, or what I'm waiting for!


Anonymous said...

This makes me so angry for you guys. You are obviously really well informed people who can handle the lingo, why on earth would a doc be so threatened that you seem to have a grasp on your own son's health issues? That's so frustrating! And to top it off you have to wait for insurance approval. I wish there was something to say that was helpful.

We took Ethan to an osteopathic for cranial manipulations a handful of times leading up to his first Ci surgery. We noticed that it really helped round out his head and get the bones to move into the right place. His head was oddly shaped until he had these "manipulations". They really had a calming effect on him as well. But insurance didn't pay for it, so we paid out of pocket.

leahlefler said...

It is frustrating! You can't really tell when you look at Nolan straight-on. From the side, though, it is apparent that his forehead sticks out and his eye region is recessed. It's not a big deal, but if it requires any sort of intervention I want to take care of it now! Luckily I see the ENT in two weeks.