Tuesday March 17th

8 o'clock this morning we had appointment with our geneticist. I dropped the oldest and youngest with my parents so I was able to focus completely on Nicholas and have conversation with the Doc and not get distracted by other littles. We were running a little late and got there 2 minutes after 8. Of course, I get us all checked in and look over at Nicholas and he has 'the face.' As a parent you know 'the face' I told the receptionist we would be right back, but I needed to go change him. Of course once we finished and came back to the waiting room, the nurse was waiting for us. We did a height and weight check on the way to the room and our little guy is 3' 6" and 36 pounds. Yahoo!!!!! He has finally gotten past the32 pound mark which he sat at for over a year. Then we went into the room to get vitals done and wait for the Doc. I'm never sure what to expect at these appointments except for big words, it taking at least an hour, lots of questions and SOME TIMES answers. This appointment was no different we visited about how he was doing, progress made, what he still struggles with and other things. She also did lots of checking on him; reflexes, eyes, ears, and all that jazz. She took some pictures asked more questions and then asked if we could give her 10 minutes. She wanted to go back to her office to look at the pictures, compare with some of her other notes, look everything over as a whole and then she'd be back. I'm not sure how long it was before she came back. I was trying to keep us occupied and not running out of the room and playing with the light switches and water. It is NEVER a dull moment when we go to the doctor with Nicholas. :-)
When she came back she said, "I believe I figured it out. I know you've heard me say that before, but I I really do." This time she had a printout with her. She sat down and we went over it together. Pretty much everything that Nicholas is dealing with is a part of this particular diagnosis. We talked a little more and then she shared that she wanted to run some x-rays. The x-rays were of Nicholas' back and it will help confirm her findings as well as give proof of the need for more DNA testing. He has already had 2 different DNA tests run, so she wants everything to be very clear and give a very good case to present to ND MA as to why she wants to run another one. She wants to have it confirmed via DNA to make sure that we have the correct plan of action going forward as to how to best serve Nicholas' needs. I figured ok, let's go forward. What she believes we are dealing with is called Sprintzen-Goldberg syndrome. While waiting to be called back for his x-rays Nicholas and I were playing and chatting. I kind of felt an extreme amount of peace. I had accepted the fact that we may never have a diagnosis and I was okay with that truly I was. I didn't get there easily, but I did get there. But now, to be given a diagnosis that I didn't think we'd ever have I was, well I was excited. We finally have, we FINALLY have something to tell people if/when they ask, and it's all good it felt really good. We did the x-rays and because the appointment took soooo long Nicholas missed the entire day of school. I would have dropped him off at 1030 or later and they get on the bus at 11. I figured it wasn't really worth bringing him in so we went back to Grandma's, picked up the other two boys, then went home to enjoy the rest of the day. I didn't get a chance to start researching anything, but was able to just let it all sink it. It was nice to have a name, now comes the process of discovering exactly what that name means. Come back soon as I will have MANY more posts on their way.