One of those topics is Nate's diagnosis of the genetic disorder Ectodermal Dysplasia. It is something that is part of our daily life and there hasn't really been an "event" worth posting. The initial diagnosis threw us for a loop. We had so many questions and very few concrete answers. It was a difficult place to be.
What we may or may not have learned is that ectodermal dysplasia is an x linked genetic trait. However, there is no sign of it in Jen or her family. The insurance company will not confirm or deny whether they will pay for genetic testing so we are left in the dark. We have learned that there are spontaneous mutations. We think that this may be the case with Nate. What that may mean is that if we were to have another child that child would be extremely unlikely to have the same disorder. There are millions of other disorders and diseases out there so still plenty to worry about. We kind of feel like it would be lightning striking twice to have another child with a genetic disorder though.
Nate. Nathan. My little peanut is by far the most superior being on the planet. Ask anyone who has met him. He is the most charming 22 month old you can imagine. Probably the most noticeable difference about him is his hair. Most people think he's just really blonde. The fact is his hair lacks any color and because of a lack of oil glands it is very fine and breakable. Short is going to be the way to go for him right now. It looks really cool that way. We've seen other kids whose hair has filled in quite a bit. Maybe that'll be the case with him.
If you get up closer you'll see that he only has 2 teeth and they are pointy and right up front. Kids with his disorder tend to get teeth later. The biggest problem with not having teeth or rather never having had teeth is that the jaw bone doesn't thicken up the same way making it difficult for dental implants later. At his last dentist appointment the dentist thought he saw tooth buds so we are hopeful that his teeth are tardy and not absent.
Nathan either doesn't have or has a lack of sweat glands. It's not as noticeable until you see a sweaty little baby somewhere and realize Nathan's never been like that. The danger there is that he can't cool his body. Heat can cause raised temperatures and lead to seizures. This is the most dangerous thing we deal with regularly. August in St. Louis is especially brutal. Nate spends quite a bit of time indoors right now. Not that the rest of us don't. So far I don't think he's missing anything by spending time indoors. It may become a habit that later we need to break and encourage him to spend more time outside. We'll cross that bridge when we come to it.
We've got a chart of milestones that an average child should accomplish by certain ages. Nate blows all of these social and educational milestones out of the water. Things like stacking blocks and jumping and number of words in his vocabulary are history to him and still a long way off for other kids. So we feel confidant that he'll be just fine. He's brilliant and charming. What else could you ask for in an offspring?
By the way, have I mentioned my theory that if you switch the endings of The Sopranos and Seinfeld everyone would be satisfied?
2 comments:
My brother has this - he is 10 years old now and lives a pretty normal life. I actually never knew he had anything wrong until I was told because by looking at him there isn't really anything obvious. He has had dental implants & is considered "blonde". I had no idea what it was called until recently. He did not get teeth at regular times like other children - he was later and they were few and pointy. He has an issue with sweating, but he still plays soccer. He is above average in school and very intelligent. We also have no idea where it came from & no one has had genetic testing to figure that out. My infant son was just diagnosed with epilepsy & dysplasia can have something to do with it - he doesn't have any form of dysplasia, but I am wondering about the gene. Anyways, I was just surfing around looking up "ectodermal dysplasia" and I found your blog. Your son is adorable & he kind of reminds me of my brother when he was younger. Best wishes! :-)
Hey Mike, I've been negligent in reading your blog but I want to thank you for this post. It's really enlightening to me and I'm so happy your comfortable talking freely and openly about it. And like you said in your post, why wouldn't you? Nate's GREAT!! Lisa and I are still looking forward to a trip to your area to meet him in person. I'm sure you'll hug him anyway, but give him an extra squeeze for us.
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