Wednesday, May 27, 2009

The Results



I got a call yesterday from the Nurse Practitioner of the genetic specialists in Rochester. She informed me that Nathan definitely has MCADD. She said his bloodwork confirmed 100% that he has this metabolic disorder. His biochemical markers were all off and elevated which is what they look at. Also, his L-carnatine level was very low which is another indicator. Nate has to be re-tested for his L-carnatine levels in 3 weeks to see if he is bringing it up on his own at all, and then again re-tested at 3 months. This is the supplement that he will be on most likely if he doesn't bring it up, which most people with MCADD can't make this level come up with out supplemenatation. He will also have DNA sequencing on Aug. 4th to see if he has two sets of this cromosomal abnormality or just one. That will let us know if it is more or less severe of a case. However, the nurse said that the only real indicator of how severe it is, is the first time they get sick and need intervention. So that is why they treat each baby as if they are severe. So, now we are to just pray he stays healthy and well taken care of in cases of emergency. Also, she said I will keep waking him at night every 4 hours until the doctor sees he is able to be stretched slowly (they determine this with follow up exams on an individual basis), so that hopefully by a year old he will be able to go 7 to 8 hours between night feedings.
When I first found out, I was crying again because I thought for sure they would tell me he was fine. He seems so healthy and perfect to me. And I know he is perfectly made by God and I have to trust this is his plan for now. I know it is manageable and the nurse kept saying that we just have to watch for signs and know when to take him in for treatment, but otherwise he should grow up like any other child. We just have to make some adjustments for him. We know that once he starts to eat he will have to eat a low fat diet and will have to keep from going long without eating. I thank you all again for your concerns for us and all of your prayers! We know that is what is getting us through and we are so thankful Nate is such a good eater right now. He is already 8 pounds and is getting chubby cheaks. We will pray now that his carnatine levels will rise and that if he has to be on this supplement, that his body will handle it well (supposedly harsh on the stomach sometimes). I will keep you updated as we have more testing and if sickness enters our house I will post it so that we can have more people praying!
I wanted to share one of the things that brought tears to my eyes. It is really humbling to hear when people are praying for your family and are taking time out of their day to bless you. My dad called me to tell me that Nathan is being prayed for around the world. My parents have a couple living with them from Chile and their church over there prayed for Nate for an hour in their church service last Sunday and then had Nate on a 24 hour prayer chain so that for an entire day someone was praying for him each hour. How amazing!!! We are confident that God is taking care of our baby and is using you all to help.
Thank you thank you!




6 comments:

Mari Fontana said...

I will pray.

Jen said...

AWESOME, Prayer is powerful!! We are all praying here as well!! Can't wait to meet his little guy!! If you need me next week or the week after Shaun said he would keep the boys. You may be ready for some down time w/o company and settling into a routine, so let me know what you need!! I love you!! Praying for you as well!!

Joyful said...

I feel like one of the hardest parts about being a parent is watching your child get hurt or hurting and there is nothing you can do. I cant imagine what you are going through. You have such an amazing attitude and I know it comes directly from God. We will pray for you and the little one. Through this God will be glorified.

Gabby said...

Nate looks great!...what a little butterball...hehe!

the swineharts said...

praying for you sarah!

Erin Gilbert said...

Yes, You know we are praying for little Nate here in boise. We love you so much. God will get yall through this time.