Wednesday, January 2, 2013

The joys of Goldenhar

According to the latest data (collected by me today) Brooklyn has 24 teeth, which is probably normal, she is now nine years old. Gage on the other hand has a total of 19. There are a couple of more that will likely come through but at this point I don't see past 21 teeth in his near future and the ones he does have, aren't actually full healthy teeth. They are called pegs. Despite his wishes to be able to go to the dentist and just walk out with a cleaning, that simply doesn't happen for him. There's always talks of other procedures, other appointments, other doctors, and future surgeries.

This is all a direct result of having been born with Goldenhar Syndrome. This is sometimes referred to as Oculo-Auriculo-Vertebral Spectrum. This spectrum covers several categories of people and those with Goldenhar Syndrome are some of the most severely affected of this particular group (read more here). There is no known cause of this syndrome at this time and it actually took us years to reach this final verdict, having floated between this and CHARGE syndrome and Branchial Arch Syndrome for his first years of life. I can't stress how much easier it is to walk into a doctor's office or E.R. for that matter and name a syndrome rather than say, "They don't know what syndrome he has yet." Even though it is a very rare syndrome, they can at least take a minute, google it if necessary and have an idea of what they are dealing with. Along with severe ear issues, ADHD, and dental problems, he has a dermoid in his eye, which is similar to the skin tags he was born with, only we haven't had this removed since it's unnoticeable at this point. It is much like a skin tag, only under his eyelid, unseen unless he pulls his lid back. (I completely freaked out and went into an all out panic when I discovered it when we were making faces at each other one day when he was a toddler.) He has his vestibular issues we've grown used to and his slow growth.

He hasn't had an easy road and never really will compared to many of his peers, but he does amazingly well. He has friends, he is bright, he is lazy, he speaks well, he listens when he wants to, he misbehaves, in other words, he is "normal". He will still have the jaw distraction surgery after puberty sets in, and we can only pray that nothing unexpected and more serious pops up to catch us off guard. He certainly isn't looking forward to having his jaw bone lengthened and wearing a metal contraption around his face, but we hope that it will help align his teeth better so they don't wear down as quickly. One day, he'll likely wear dental implants for the missing teeth and his mouth will likely look prettier than mine but until then, he'll just have to use what he has, eat softer foods that require less chewing (I'll take his steak!) and he'll continue to grow as big as The Lord meant for him to be.

Even though he awoke with 22 teeth and had three removed by the dentist today, he's in good spirits. I fixed him a large peanut butter/vanilla milkshake for lunch. He had his ears tuned up last week, and his next appointment will be in 6 weeks for another tune-up. Until then, he'll be hunting, playing, inventing, schooling, and being a boy....ahhh, the good life!
why match socks??

1 comment:

dlefler said...

Oh, ouch to the teeth pulling! I hear ya about the lack of a "name" - Nolan still doesn't have a global diagnosis but mitochondrial disease has been tossed around a few times. It can take a long time to get a good handle on a correct "name" - so until we have one, we walk in with 3 pages of information about past medical procedures and his current attachments!

I hope Gage gets to keep the rest of his teeth - dentist visits have to be one of his least favorite doctor appointments!