Tales from my life as a mom of 2 sons and 2 daughters


Cheli On Friday, April 3, 2009
Today was Journey's Genetics appointment.. FINALLY

In case you don't remember, he didn't have the test for Noonan specifically because there was no lab in our state the could do it and no out of state lab that would take our insurance. So they did a Chromosomal test and a Microarray instead and said we'd go from there. That was back in January that we got the tests done.

Anyway.. his Chromosomal and Microarray both came back normal. What this tells us is that he doesn't have a chromosomal defect or anything missing or out of place as far as that goes. However, the chromosomes have nothing to do with Noonan so he wouldn't have anything wrong with them even if he was a Noonan kid.

So where does that leave us? According to the geneticist it leaves us with definite characteristics for Nooan Syndrome but no way of definitively diagnosing it. The two ways of diagnosing Noonan Syndrome is to 1) do genetic testing specific for Noonan Syndrome or 2) be clinically diagnosed based on physical characteristics distinctive to Noonan. And according to her while Journey does have quite a few of the physical characteristics of Noonan and many "suspicious features" associated with Noonan they are far enough "off" to definitively lead to a diagnosis of Noonan. Apparently there are guidelines that tell them whether a child can be clinically diagnosed with Noonan and Journey's features are off by enough to do so at this time. She said that as he grows it's quite possible that some of the effects of Noonan and even some of the physical characteristics that he's displaying to a lesser severity could become more evident at which point they would be able to clinically diagnose him.

For now he is labeled as "probable Noonan Syndrome" until we can get the testing done (we were informed that just the first tier of testing is approximately 500 dollars out of pocket) or until he shows more definitive characteristics of the syndrome at which time it would change. She said she wouldn't be surprised if he has it and feels he probably does but that it really doesn't change any of his care at the moment or effect him in any way other than the ways we are already addressing, GI doctor, therapies for developmental delays, cardiologist, etc. She said when he hits school age it will probably become more evident if he is as his "short stature" will become more of an issue for him and at that point we would talk about Growth Hormone if needed. She said we would also probably what the defenitive diagnosis before he marries and procreates because he can pass this on although she doesn't think Doug or I passed it to him.. she thinks it is probably just a "fluke".

We'll see them again in January for another follow up and then yearly from there.