September 23, 2009 - 12 Weeks Old

Just when we thought things might finally be falling into place...along comes genetics.

Jesse and Gabe were hanging out this afternoon, minding their own business, when in walks the genetics team. They have been following Gabe from day one since he is a complete mystery. They did a full genetics work up on him in the first month and everything looked as it should. I guess I should say, all the usual genes they look at, looked fine. There are billions so it's hard to get a good look at every one of them. Since adding Chylothorax to Gabe's list of "things," genetics now feels he may have something called Noonan Syndrome. Apparently they feel that G's eyes are a little further apart then "normal;" his legs and arms are shorter then they should be; along with a couple other things they rattled off; and with the now diagnosed plural effusions being Chylothorax; these are all characteristics of Noonan Syndrome. They drew some blood for further genetics testing. There are three specific genes they will be looking at now. It will take about two weeks to get the results back and even those are only something like 70% accurate. Jesse and I have spent A LOT of time staring at Gabe over the last 12 weeks, and never once have I noticed any of these things genetics is talking about. I know I'm not a professional or anything, but I was really surprised when they started talking about some of his measurements not being "normal." So what is Noonan Syndrome you ask???

Per the Noonan Syndrome Support Group it is:

"* It is believed that 1 in 1,000 to 1 in 2,500 children worldwide are born with this condition.

* Each day a child is born with the condition.

* It’s possible that people carry the gene yet are undiagnosed.

* Once affected, their is a 50/50 chance of passing the gene on to one or more of their children.

* It can also occur sporadically, presumably due to a new mutation.
Often called a “hidden” condition, the children affected may have no obvious casual signs to the onlooker, but the problems may be many and complex. A clinical test is available, in some cases. As of 12-03-06, 3 genes have been identified. This is a genetic condition that can affect the heart, growth, blood clotting, mental and physical development. Affected individuals may have behavior problems, learning difficulties and many other anomalies. Noonan Syndrome is one of the most common of those conditions associated with congenital heart abnormality.
Still its exact cause remains unknown….."

Good old Wikipedia has a pretty thurough description of the Syndrome along with a list of manifestations. There were things in almost every category that applied to Gabe, however a lot of the things were pretty general. I bet most of us could find a few things from the list that could be applied to ourselves.

Instead of freaking out about this Noonan Syndrome, Jesse and I have decided to stash it away in the back of our minds, as much as we can, and wait for the results. No since in worrying too much about something we have no control over. He is still our son regardless; we won't love him any less; and should he have special needs because of this syndrome, then we will deal with them as they come. Gabe seems to finally be on a good path and we don't want to let this new information get in the way of us enjoying our son. Yes, genetics definately took the wind out of our sails this afternoon, with this information and possible diagnosis, but we are recovering, and just want to continue loving our Gabriel for the precious little person he is.