So, we got the news on Nate's DNA testing. It is all really confusing to say the least. I've been trying to find more information on the internet and that isn't happening. Before the test, the doctor told us the reasoning behind DNA sequencing is to see whether or not Nathan has one or two of the mutated MCAD genes to show us if he is somewhat of a more severe case or not. So after the test, I wasn't even worried about getting the results. I just KNEW that he didn't have a severe case. I felt in my heart he was just FINE. Also, from how long he was going at night without feedings and how healthy, alert, and active he was.... I just figured he was fine.
The nurse practitioner called a few days ago with the results that came in early, so i was caught off guard right away when she told me they were in. When she told me has has BOTH genes for MCAD, I was absolutely shocked. I really wanted to cry, but I was just silent. Then I asked, "So does this mean he has a more severe case of MCAD?" Her response was, "Theoretically, but we won't know until his first or second illness that makes him not eat or throw up. Every MCAD patient is different." So now I feel like its a waiting game. I don't want him to get a sickness that causes his MCAD to act up at all. However, we will not know how severe his case is until that happens. He has been sick for two weeks now with a nasty cold that turned into bronchiolitis, and he has eaten well through it all... thank you Lord! I am human and sometimes wonder why these things happen to our sweet little babies... and then I also am reminded that he is alive and well for the most part and in my arms today. God is sovereign and I know that He can still heal Nate. I also know this may be His will for Nate's life to bring Him glory through it all. Either way, may your name be praised Jesus. I know Nate is a gift!
Thank you all for your prayers! We still need them and are so grateful for them all. I pray that I will know when to act on his condition.
Now, we take Nate on November 24th for re-evaluation, check up, and carnatine levels. He will be started on carnatine (enzyme that helps him break down some fat for energy) then. Also, we will be taking Will and Abby with us because the doctor wants them to have DNA testing as well. I think its just because of Nate having both mutations to see if they are carriers , but I wasn't totally sure on that one.
Nate is always chewing on something. Usually fingers and toys, sometimes chins and shoulders...
Here he is getting his breathing treatment. He really just wants to chew on it.
Thanks for following along and being by our side through this.
(oh, and for listening to my ramblings)