Well, here we are. The night before the "big doctors appointment". Now, I have three kids who have never stayed in a hotel, and as a family of 5 we have never stayed at a hotel together. So our kids were so excited , to say the least, to get there and see just what this "hotel stuff" was all about.
When you are cooped up in a small bedroom/bathroom/kitchen/office/living room all combined into a 170 square foot space, well that is when God allows you to realize some things. My first realization, "wow, my house is huge and no matter what.... it's CLEAN!!" My second realization, "um....I paid $68 for this???" My last realization, " our family was not meant to be this close together" Needless to say the kids did not sleep and due to the upcoming events of the next day neither did mom or dad.
Now I also learned somethings about myself and our family. One being, a hotel swimming pool is way cool to a six year old, but to a 32 year old it is "grody to the max" (yes, I just went there). Two, when you have a "germ-a-phobic" with you on a hotel stay, rest assured your vacation just got ruined, and three our family of five can in fact get up and going and on the road at 7:00 a.m as long as someone else is there to fix our breakfast.
All joking aside, this was a big day for us. We went to Cincinnati Children's Hospital for a second opinion and a firm diagnosis, and to get our son tested for this disorder the girls have.
The answers we got were, "if, if, and if" all of the"ifs" were due to the fact that records were not sent like they should have been 2 months ago and the doctor could not look over the tests results from Anna or Ava.
So here is the break down, "IF" this is primary carnitine deficiency, it is a life long diagnosis. It does affect the kidneys, liver and muscles, (this including the major muscle, the heart) it also will make you very tired and lethargic. "IF" this is secondary carnitine deficiency then it is treated the same but we may never know what is causing it and could be harder to treat as problems surface.
We met with a genetic counselor. She suggested we get the blood work done to see if they have the specific genetic mutation for this disorder. This test will cost anywhere from $1500.00 to $4000.00 per child biased on the test that we have to get done....and guess what, that's right our insurance will not cover either test. We do feel this is a test that they need done, but it is a test that can wait a few years. This test will be helpful when they have decided to start a family of their own, and need to know if they are carriers of this specific gene and can pass it on to their children.
So, we are still here turning around in circles. Not knowing where to go. It was suggested that we stay with both specialists, due to the distance we have to drive to go to Cincinnati. That way Cincinnati would see them once a year to do an ECHO on them and then the rest of the time they would visit their local specialist for check-ups and medicine refills and such. Either way we look at it, it's going to get costly.
I am happy to say, though, that my Jaden was tested today and we should hear back in about a week from them to see what the game plan is.
When the doctor told me that by putting them on the medicine it decreases their risk of kidney, and liver failure, my eyes filled with tears and my heart praised God for pushing me back through doors that had been slammed in my face. There were many doors I had to kick in. Anna got so sick, I don't even want to think how sick she would be by now had God not given me the courage to bust through some doors and be the momma he intended me to be for these kids.
Today reminded me of a story, out of Matthew 14.
"Immediately Jesus made the disciples get into the boat and go on ahead of him to the other side while he dismissed the crowd. After he had dismissed them, he went up on a mountainside by himself to pray. When evening came, he was there alone, but the boat was already a considerable distance from the land, buffeted by the waves because the wind was against it........"
This story goes on to say that Jesus went walking on the lake towards the boat and his disciples thought it was a ghost. They cried out to him, and Jesus said to "take courage it is I. Don't be afraid" Peter then said, "if it's really you, then tell me to come to you" and Jesus told him to come, and Peter did, and he kept his eyes on Jesus, but then saw the wind and was afraid and started to sink.
See I had hoped our 6 year journey would have ended today, with a diagnosis, and a doctor to explain somethings to us......but it did not. We are still sailing in the middle of an ocean waiting for rescue to pull us in to safety, and not knowing from which direction the rope will be coming from. We are fighting each "wind" along the way trying not to focus on the "winds that are against us", but rather focus on Christ, knowing that as soon as we take our eyes off of Him, we are going to sink.
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