Nathan's Diagnosis of Apert Syndrome

Our son, Nathan has Apert Syndrome.  It's a pretty rare Syndrome (1 in 160,000-200,000 births in the U.S.) and one that we certainly hadn't heard of until his birthday.

The basic science (5th grade level, because who really understands science after that anyway?)  behind it is that it is a chromosomal malfunction in the coding.  "AA" copied as "AB" and so a strand on the 10th chromosome doesn't process protein correctly.  Apparently, all of our finger bones start out fused together but when protein isn't processed correctly on that chromosome, it keeps the bones from separating.  So, the finger and toe bones in Nathan's hands and feet are still fused together and the skin just grew over them.  They call it "mitten hands."  Also, there are several bones fused together in his skull and his mid-face.

The long and short of it is that these fusions will mean that a lot of surgeries have to take place over the course of Nathan's life.  Quite a lot.  First of all they will "release" his fingers and toes in two stages around 9 and 12 months.  Then, at about 15 months they will do a surgery in which they cut a gap into the fused bone in his skull and move his skull forward to allow room for his brain to continue to grow safely.  Nathan, however is a little bone-making machine and his body will continue to grow bone where they cut a gap and so the space will again be filled in.  This will result in several more of these types of surgeries throughout his youth and teen years.  The goal, of course, being that his brain is able to grow safely in a healthy shape, with minimal pressure.  At some point along the way he will have a surgery which will pull forward the bones in his mid face - his eyes, cheek bones, nose, etc.  He will also have ongoing surgeries on his hands as his fingers continue to grow.  He will have bends put into some of his fingers at some point (he doesn't have middle knuckles) to help give him a little more functionality.

Nathans has had a few "bonus" issues as well.  Most of these are digestive...  His small intestines were malroated, his pylorus tried to duplicate...  these things have meant that on top of several surgeries to correct those problems, Nathan also has a G-tube (feeding tube.)  We're hopeful this will not be a totally permanent solution but are also thankful that he is able to get the nutrition that he needs safely in the mean time.