A Good Appointment

I am really beginning to like these good appointments. My goal is that one day I stop waiting for the other shoe to drop but I am just not quite prepared to do that just yet. One day.

We met with the geneticist yesterday. I really like her. She is down to Earth and very personable. It seems that most of Z's doctors have been this way and either it is how most pediatric medical professionals are, or we just got way super lucky! Z weighed in at 24lbs and is 32.5 inches tall. For a "normal" child he is I think in the 10th and 25th percentiles but for an NS child he is around the 50th percent mark and we both feel this is great. However, she is referring us to an Pediatric Endocrinologist to discuss growth hormone therapy. He may not need GHT now but could very well need it in the future. When I called to make his appointment, it was comforting to hear the receptionist say, "Noonan Syndrome, okay." and I even told her, "this is the first office I called and they knew right away what NS was." and she laughed.

I told the geneticist that I had concerns about his soft spot still being open. She felt it and said she saw no reason for concern but if Dr. Kate felt concerned then we could follow through with another scan. However, she pointed out that earlier this year he had a brain scan (Really?) and it was normal. Maybe that was the $550 test he had done? I really do not recall this being done! My bad! So for now, that is off our list of worries.

We went ahead and got Jason tested for NS and should have the results in 4 weeks. If he is negative, then there is no need to worry about JD. If he is positive, we have to get JD tested and his heart checked. She explained to us that she feels the low muscle tone is Z's only "effect" from the NS. He has the facial features and such but none (thank God) of the major disorders and she does not see them just appearing later in life. She pointed out that the gene that causes his NS can cause JMML. Does this mean he can get JMML (the real JMML) later in life? Yes. Her (and Dr. Rob) told me that the chances of a NS child, w/the mutation that Z has, developing JMML is very low but it can "come back" and usually does by the age of 5. As my friend Melissa told me, "He's almost 2!" so yes, we are closer to 5 YO! :-)

His orthotics will be ready in about 3 weeks and I think (knock on wood) the state is paying for them. I took the advice of my friend Gina and added some advertisements to my blog. If you click on them, little Z earns money. It isn't much but every little bit helps! There are so many people worse off than us and I am grateful for all that we have but somedays I forget what all I have because I get consumed by what I have to pay. I am really trying not to be negative and I appreciate everyones hugs, wonderful advice and support. It helps keep things in perspective for me.

We did put in a request to have Z evaluated by a developmental therapist. By the age of 2 they should be saying 50 words. I am not worried about Z as I know when he gets stronger in his walking the words will come but I feel like he understands so much and just can't get the words out. So I want to see if there is more I can be doing for him. If it is normal for him then I am fine with that but if we can help him then I am all for that!