Geneticist - Fri Jan 4, 2013

So, I could start this post out with all the craziness of how long it took to get back in to see Dr. M but I won't, ok well maybe a little to give you some information. First of all Back in Oct. we had some blood drawn from Nicholas to test him for Marfans. Well Dr. M called me in Dec. to let me know that the genetic testing came back negative. That is good news. It is really, but it was hard to take, for a couple reasons. 1 - It meant we were back at square one, knowing nothing as far as what is "wrong" with Nicholas. This honestly made me very angry! Because it is very hard to continue to live in the world of the unknown. I know the Lord has a plan and it is beautiful. It is just really hard to see NONE of it. 2 - The risk for any future children (having Marfans) is very low. I am not going to say that it is non-existent, because there is still a chance (5-10%) that the test was a false negative. This is good news just hard to kind of wrap our heads around because we felt fairly certain that we were going to be dealing with Marfans. All of this leads up to our appt. with Dr. M today.
Our appt was at 11. I got there just after, because trying to find a parking place was like trying to walk through a maze with my eyes close, but I asked my Our Sweet Mother Mary to help us so we could get inside and not have our appt bumped and almost instantly she did. It was a great time of rejoicing.
I was rather surprised when we didn't have to wait to long to get into a room or for Dr. M to join us. (My mom came with since Doug couldn't) The appt. started as all the others have with her. Asking questions about what he is doing now. Are there things he isn't doing? His overall health and all of that. Then about 10-15 into the appt. she asks when was his last ECHO. I said well, he hasn't had one since birth. She asked about his follow-up one (she requested it back in Oct.). Told her we haven 't had a follow-up ECHO the only one Nicholas had was the one 2 days after birth. She clarified, "So he has never had a follow-up ECHO?" Nope, she said, excuse me a moment and walked out of the room. I have to admit it was kind of comical. Mom and I looked at each other and said, "She didn't look very happy." - mom and "She looked pissed" - me. She came back about 5-10 min later and apologized. She had never done that before, ever, but she left the room to go call PED's cardiology. She felt very strongly that we were not to leave the clinic that day without getting an ECHO done. I think I am still processing the severity of her actions and her statements as I type this with tears streaming down my face and making it very hard to see the screen. She said, she did not want to replace our cardiologist, but she felt so strongly for the health and safely of Nicholas that we needed to get it done ASAP. There may be nothing wrong with his aortic root, but we can't be sure and be able to rule that out (at least for now) unless a cardiologists looks at his heart.
All I have to say is that I am soooo thankful that my mother was there. She was my rock and I was really, truthfully ok, until I am sitting here typing this and letting the very real fear process. I know that it will go away and I will be okay, but for now, I just need to let it out. Let it find a "voice" It is a very scary moment thinking back on how adamant she was is us not leaving until it was done. I am sure that I will come back to this again as I continue to process this all out and I thank you for bearing with me. You can't get mad if you are crying though, because I did warn you a few posts back that you would probably need some tissues. :)
So, back to the appointment. At this point it was 12:30ish and she had scheduled the appt for 1:45. We had a few more things to talk about and finish up and then we could go grab some lunch and come back. As we were finishing Dr. M informed me that she wanted to do another blood test to test for another possible genetic "mutation," but wasn't going to wait  (2 months is what we waited for ins. last time). So we also had to try and get lab work done as well. We finally finished with Dr. M at 1250.
My mom, Nicholas and I ran downstairs to the cafeteria, grabbed a couple of sandwiches some soup and a couple of drinks. We then headed back upstairs to the same waiting room to wait for cardiology to call us. We of course didn't think they would be so quick. Nicholas hadn't had hardly anything to eat when they came out so we actually turned them away. Can you believe that, normally (it seems) like you wait forever for the nurses and the doctors and we asked her to come back so Nicholas could eat or we knew he would not lay still for them to perform the test they needed. When she came back the 2nd time Nicholas was starting to fade so we stopped feeding him and headed back to the room. Now those of you that have children think about this a minute, a 17-month old staying still for 20-25 minutes so they can attach him to wires to monitor his heart and basically do an "ultrasound" of his heart. Right, you want him to lay still for 20 min? not going to happen. I will say that the tech was a GEM!!! She said right from the beginning, we just roll with it. We will do out best to get what we can and just roll with his cooperation.
So I have to toot my little man's horn for him, because he did AMAZING!! I mean this is past nap time, he has already been poked and prodded by Dr. M looked at measured not been able to play and now we wanted him to lay down and not move (much) for 20 min. Right!! All that being said, Nicholas did wonderful. He of course was not fond of it all, and try a few times to roll over or kick himself out, but I was laying next to him and "holding" (my hand on his tummy) him. He really did amazing. I was so proud and I still am. Now, before you start asking about the results and what did it show, I have no idea. The cardiologist will get the results to Dr. M and she will then relay the information to me. Of course I had to ask the tech if everything looked normal, but to no avail. :)
I wish I could say that our day at the clinic was done, but it was not. I know we have tortured Nicholas enough today right? Trust me all I wanted to do was bring him home and just cuddle him all afternoon and not let him go. But, genetic disorders can't diagnose themselves so to the lab we go. We check in and then Nicholas crawl around and move for a while until they call his name. Of course we had to wait for 2 techs to be available because with little ones they need to hold them down. Again my mom was such a blessing to have there. I won't give you all the details to make you picture it and cry too (like I am again right now), but as I held Nicholas she held his pacifier in, because his hands were unavailable to do it. Again, my little guy is such a fighter. He was so tired, I truly expected him to scream and wither and try to get away, but after the initial stick he actual calmed right down (mostly) and sat there fairly calmly until it was finished. It only took maybe a minute and finally, finally we could go home.
We had only been there for 4 hours. I wanted out! I am sure there are grammatical errors in this post and possibly some areas that don't make sense, but that is life right now. I knew I wanted to get this down and written before I forgot and buried things even deeper. All I know is this, we have an amazing little boy in our lives and we are going to do everything we can to cherish him and his brother and (do our best) to not let all of this scare us or deter us from what we have. I ask that you continue to pray as we wait on results of the ECHO and his blood work (the blood work will take months). We are still in a place that is very scary to me. I did a little very little looking into what Dr. M is testing him for right now and that is all I can do, because it is too scary and too hard to do more than that. At this point I am not going to share what that is until we have a handle on it all and know for sure what we are dealing with. Again I think you for still reading and going through this with us. I will do my best to keep posting both about Nicholas' journey and also about our life in general and the handsome boys we have been so blessed with.