Hemifacial Microsomia

So let me start from the top. When Carson was brand new, his jaw would click every time he would swallow when I would nurse him. I asked his pediatrician at the time if it was something I should be worried about and he just kinda shrugged it off. Ryan has TMJ so I figured that it was something Carson had inherited. The clicking lasted a few months so I didn't think too much about it.

As he got older, there were some more warning signs. Like how he would sleep with his head clear back or the fact that he can never seem to hear what I say to him or, of course, the lisp we're still working on. We figured the weird sleep positions were because of his tonsils and the lisp was because of his thumb-sucking habit. Those issues didn't help the situation, but, come to find out, he actually has a birth defect that could give some explanation.

Carson has a goofy grin. At first I just thought it was because he didn't want to get his picture taken but then when his preschool teacher confronted me about it and expressed her concern that it was getting worse, I started getting nervous. We had him go to the school speech pathologist and she said that it was just a lisp that he would probably outgrow but to ask his pediatrician. I asked his pediatrician why he couldn't open his mouth normally and he wasn't sure either but to check with a dentist. Mind you, Carson had been to a pediatric dentist  regularly who's only concern was the thumb-sucking. It took about two months before I was able to get Carson into the dentist. We were able to get a panoramic x-ray and see that there was a deformity in his jaw preventing him from chewing, smiling, and opening his mouth normally.

I was totally heart broken when I was told he had a "deformity." I went in knowing that something was wrong but thinking that he would just need a brace or something to straighten things out or maybe just re-training his muscles somehow. I was not expecting a birth defect.

The dentist recommended we take him to see an oral surgeon. There was only one oral surgeon that would even take a look at a jaw problem. I sent him the x-ray and he told me that he could do a CT scan to get a better look but most likely we'd have to talk to a craniofacial surgeon at Seattle Children's Hospital. That was some more crappy news. I was able to get in contact with a pediatric surgeon who deals with cleft palates and he took a look at the x-ray and he said that it looks like a mild form of hemifacial micorsomia. At the very least we could put a name to it. I was told that we should wait to do the CT scan for when we went to Seattle but to get an x-ray of his cervical spine to make sure that there weren't any issues there, to get an ultrasound of his kidneys because with this kind of birth defect, it's common to have duplicated collection systems, and then to get a hearing test.

So, what is hemifacial microsomia? It's the second most common facial birth defect after clefts. It's when kids have a small or underdeveloped part of the face, usually the ear and jaw. Some kids don't even have an ear or an eye! I'm so grateful that he was born with a normal looking ear! So far, researchers don't know why some kids are born with this defect. But they have figured out that it has something to do with the blood supply around 6 weeks gestation. Luckily, it's not something I did or didn't do. It doesn't seem to be inherited or something that is passed on. There's a 1% chance that you can have a child with the birth defect but if you have a child with it, the chance of having another child with it is about 3%. How weird is that?
Apparently, Seattle Children's Hospital deal with kids with HFMS a lot. We're really blessed to live so close to Seattle with the added bonus of having family living there. We're headed over there the end of April.

Some treatments include surgery. Carson might need surgery now and then again later when he's finished developing, around 18 years of age. They might need to do a bone graft or some form of orthodontics to help stretch the bone that is already there.  He might need to go back to a speech pathologists to help with his lisp because kids with HFMS have some differences in the muscles in the back of their throat. It'll pretty much be a bunch of different doctors working together. I was really upset at first because I thought it was going to be worse than it is. He has such a mild form compared to others and it could be so much worse! It has made me look at my other kids differently though and now any little quirk they have I'm suspicious of something more serious. I just really hope that we can do something to help now so Carson doesn't have to have his goofy grin through his teenage years. That would be tough. Now, his goofy grin is cute but it won't be so cute on a 16 year old. I guess we'll know more in two months! I'll keep you posted!

Six months old

Two years old

December 2010