August 30th, 2005

Dillon is getting close to being an official walker! He takes several steps at a time, and occasionally makes it a good distance. Here’s a short clip of him walking. Goooo Dillon! http://www.craniokids.org/walker.WMV

August 23rd, 2005

Dillon is trying very hard to become a walker! He can take two to three steps without help, and a couple of times has gone even further. It won’t be long now before we’ll be chasing him all around the house wishing for the crawling days back 😛

Those stubborn teeth! That third tooth that was poking out, went back under the gum! Poor two little tooth having Dillon.

I picked up his CT films and the radiologist report, and we go see Dr. Jackson on the 19th and Dr. Zakalic on the 15th of next month to dicuss the reults. I hate the waiting, but I’m sure if there was cause for concern we would get a phone call to come in sooner.

We had our appointment with the geneticist last week. The doctor and genetic counselor were both awesome and spent about 2 hours talking to us, answering our quesitons, and going over family history. He pointed out some things I had never noticed about Dillon before like him only having a single crease accross his right hand (there’s usually two), and the shape of his ears (I can’t describe that part).
We went in there thinking Dillon might have Pfeiffers’ or Crouzon Sundrome, but it doesn’t appear to be the case. There are varying symptoms between Dillons aunt, cousin, and Dillon which is unusual for either of those syndromes.
He thinks the possible answer is Saethre-Chotzen Syndrome. It’s a condition than can vary from person to person to the point many go undiagnosed. It’s possible to have the syndrome without having the craniosynostosis, but rare. Usually the coronal sutures are involved, but more can be, as in Dillons case.
I’ve done quite a bit of reading on it and every site seems to have different statistics on it. Some say it’s as rare as 1 in 250,00 and some say as common as 1 in 2,000. What I have been able to figure out is that the physical symptoms seem to be the same on all sites, and the occurance of developmental delays and behavioral/personality disorders are rare. There is a test for it which has a 68% sensetivity level, meaning a negative result does not rule it out. We are looking in to having insurance pay for the test, which would be performed by Johns Hopkins. After all the reading I’ve done this syndrome would make sense, but there are over 100 known craniosynostosis syndromes so it could be a while before we know for sure. We are very happy that we may be getting some possible answers though!

Saethre-Chotzen Syndrome information; http://www.orpha.net/data/patho/GB/uk-SCS.pdf

August 2nd, 2005

First, that third tooth is coming in! It’s just barely peeking out of the top gum. At this rate, he should have all of his teeth by the time he is three 😉

There was good and bad news at the orthopedic surgeon. The good news is that Dillon’s head tilt is not caused by a muscular problem and we can stop PT any time. I think for the time being, until we know exactly waht’s causing the tilt, we will keep him in the physical therapy. He also took X-rays and ruled out spinal problems in the neck. The bad news is that now we do not know what is causing the tilt 🙁 The Dr. suggested we start with a pediatric opthamologist and see if there is a visual problem causing Dillon to tilt.

The spot on Dillon’s forehead that had a bruised appearance has become darker, but we’ve had it checked and it should be nothing to worry about. He has a follow up CT scan this Friday, so we will know for sure after that report comes in.

This little guy is a handful to keep up with! He is all over the place, and I swear he crawls faster than I can run 🙂 He’s not walking yet, but can stand unsupported, and loves walking with the support of his push toy (or any other object that will slide accross the floor).
I’ve started a new album on his picturetrail page and added several pictures.

Well, that is all I can think of now! I’ll post again after the CT results are in or after we go to the opthamologist, whichever comes first.

Navigation

Search