And it's official!

I shouldn't be surprised, nor should I be upset as I expected this. However, to hear the genetics counselor tell me that the test they did for Zachary came back positive for NS stung me and left me numb. What was I expecting? I don't know. I didn't expect it to leave me feeling so raw and so, well angry.

There was an alteration in his PTPN11 gene in which indicates NS and is also seen in JMML kids. She said since it was suggested we all get echocardiograms we may simply consider getting tested for NS, Jason and I. If we have it or are carriers then we can proceed to have Jonathan tested and further testing in us. If we don't have it then we can eliminate all these other tests for us and Jonathan and know that Zachary's case was more of a "spontaneous mutation". At first I didn't want the blood tests because we are not having more kids but now, I want to know. I want to know how my son got this.

I asked her about all the lung issues he has been having and she said while she can't say it is not linked to NS but she has never heard of it. I told her I did not want to blame everything on NS because I know this could just be Zachary or the time of year but I also didn't want to ignore it because being sick since October 2nd is not normal, in my book! She said we may end up sending him to an immunologist or a pulmonologist. He saw a pulmonologist when he was in the hospital. They did 2 CF (sweat tests) on him as the first one came back "inconclusive" but we never heard more on the repeat test. Not saying it is that but would like to rule that out.

As for the pneumonia, he is acting better but tonight his fever was 100.1 (not too high) and his coughing was of course still there. I can tell the nebulizer is working but he keeps throwing up the meds so we had the pharmacist add some banana flavor to it...he still gagged but kept it down. :-) He sits so patiently for his treatments and laughs and plays.

Now it's time for a fun video...pardon my singing!