Friday, December 19, 2008

Ecto-derma-what?

When Caleb was about a year old, I started to get a little worried, because none of his teeth had errupted yet. We asked the doctor about it, and he said that there are some one-year-olds that don't have teeth yet, and that we should wait till he was fifteen months old before we start to worry. So...fifteen months came, and still no teeth. At that point the doctor and his dentist started to wonder if he might have a rare condition called ectodermal dysplasia.
ED is supposed to be a genetic disorder. It's really rare, but it's even MORE RARE for it to just come up spontaneously, like in Caleb's case. In order to diagnose ED, there must be two or more symptoms shown. A common symptom is several missing teeth, but it can also affect the hair, skin, skin glands, and/or nails. Well, we finally made an appointment with the Genetics Clinic to see if we could figure out it it's really ED or not, and today we went. These are some pictures of Caleb in the doctor's office. He's not lying on that paper-covered table because we told him to....he did that himself. It was kinda cute. He was really good. The doctor did a thurough physical inspection, and looked at his skin, his hair, and in his mouth. Caleb was really good, and we even brought his toy doctor kit so that he could do an inspection on mom as well. :)


After evaluating all the assessments, the doc let us know that Caleb DOES have ectodermal dysplasia. We still don't konw what KIND, and that will require further testing. We will continue to find out what this will mean for Caleb's future as far as Caleb's health, as well as the chances that our other children (when they come) will have it....and if it will eventually pass on to Caleb's children. This will require blood testing, which we will be doing in 2009.
So the rest of this post is kinda a little science lesson on how ectodermal dysplasia happens. The funny picture here shows the neural plate. Back when the baby is a couple of microscopic cells, or an embryo, there are certain things that have to happen for the embryo to continue to grow. The neural plate folds in on itself, to create some essential parts called the ectoderm, the endoderm, and the neural tube. The neural tube is eventually what develops into the brain and spinal cord. And the ectoderm, is what develops into the hair, teeth, skin, and nails. The next picture is the neural tube, and the red is the ectoderm, the yellow is the endoderm, and the blue is the mesoderm. Each of these funny words develops into major organs in the human body. You can imagine, if something goes wrong with one of these tiny groups of cells...how that could cause some serious changes to the human body. Luckily for me, I took Embryology when Caleb was only four weeks old, and so I knew what ED was before I even knew that Caleb had it. Caleb is otherwise healthy. So there's no need to worry about anything. We're just trying to figure out the fine details of the matter. He's happy and healthy, and we'll keep everyone posted as we figure out more.

4 comments:

Jayne & Alex Nelson said...

I am SOOOOO glad you finally figured it out instead of playing that "we don't really know" game ya know? I'm just also SOOOOOOO glad he is a happy healthy 2 1/2 year old little boy because I love him so much with teeth or without!

Mike and Marisa Compton said...

Wow I didn't know he doesn't have teeth. Is it like a permanant thing?

I love that muscle video! What a goose! And the face he made when the paper wasn't straight anymore was priceless. What a cutie!

Sarah said...

yeah, i loved the video too. Such a cutie

Chelsi said...

I'm sure it is good to finally know. What a blessing that you have the knowledge to help him out and are kinda familiar with it. You are such a great mom!! Happy Holidays.