The Blood Results are In...

First, let me just say thank you to all of the people that have really come along side us in this. You guys are a huge part of the reason we are still standing. So, thank you. Next, the results. This morning the pediatrician called me and said that the blood results came back and they seemed to be inconclusive. The levels of enzyme were low, however, the PhD doing the lab test did not believe this lead us to a conclusive diagnosis of MLD. The pediatrician then explained that it may be a good idea for us to get a genetic mutation screen. With Anabelle already getting the screen they would do Ronn and I's at the same time. I asked "so genetic mutation meaning that we aren't carriers and this is specific to her?" and she said both. That it could be a gene mutation specific to her or Ronn and I could be carriers of the gene mutation and passed it on. This screen will apparently be able to resolve all of that. We also discussed that the neurologist in Portland had done some other tests and that I hadn't heard back from him yet either. She said she would contact him and let me know. At about 3:30 this afternoon she called me back and said that after talking with the neurologist, he believes that with her clinical history and the low enzyme levels, he is 99% sure of a MLD diagnosis. He believes that the PhD at the lab didn't think the levels were conclusive because he did not know Anabelle's history. We are still going to continue with the genetic mutation screen and we also are still continuing with the treatment of the symptoms. Ronn and I are doing okay. We are not at all happy about the future for our daughter, however we know that God is going to use this for His glory and we know that He has something for us to learn from this. Thank you Lord for your light and strength in our lives. You are our Rock!

Just to get y'all up to speed...

Anabelle just got over the stomach flu. She was throwing up for almost 10 hours yesterday. We got the receipt from the blood lab however Anabelle's pediatrician is on vacation until the 15th so we haven't heard anything as far as results yet. Its kind of annoying when I go to the pediatricians office for Anabelle's flu yesterday and the "fill-in" doctor tells me about what a great time she (Anabelle's Pediatrician) is having biking through Europe. I totally understand that everyone needs a vacation every now and then, but after I've explained to you that I am waiting on lab results to find out whether or not my daughter's going to die in the next 10 years, please don't tell me that her Pediatrician will be coming back more relaxed than when she left. And not to mention, she (the fill-in) informed me how it was a "much-needed" vacation. ARE YOU KIDDING ME?! Much needed? At least leave someone with some adequate information about my daughters case history so I can get some freaking answers during your much needed vacation. Whoa, sorry about the rant. I guess I was just a little annoyed. On another note, Anabelle is starting to get used to her new muscle relaxers and isn't acting like a total zombie all of the time. It's also gotten much easier to do her daily stretching. Even cooler, the director of the MLD (metachromatic leukodystrophy) Foundation happens to live in Portland and wants to have coffee with us when we are up there on the 23rd, no matter what the test results are. He also discussed with us getting Anabelle qualified for a make-a-wish. It's really hard to think about even filling out that form. I've always admired what fantastic work make-a-wish does, but I never imagined myself filling out a referral for my own daughter. I am also supposed to be getting in contact with a social worker soon to discuss what kind of other benefits Anabelle qualifies for. QUALIFIES FOR? Why does my daughter have to qualify for anything? The only thing I ever wanted her to qualify for was a scholarship to go to college! All of this "disability" talk is making all of this a little too real for me right now. Whoa, there I go again. Also, we will be going up to Shriner's on the 23rd. They, from what I'm told, are orthopedic specialists, and the doctor evaluating Anabelle is a specialist in MLD. Our goals for this appointment are to get some better orthotics and also some ideas for pain and muscle management. We are hoping also to figure out what we do from here as far as physical and occupational therapy. Anabelle is also starting to have trouble swallowing and talking. We are supposed to be getting referred to a speech pathologist soon. I can't even begin to express what an insane couple of months this has been. I am trying to keep in communication with my Lord and trying to listen when He is speaking to me. After Job had lost everything (even his kids), and his "friends" continue to blame him Job says "I know my redeemer lives" (Job 19:25a). I know how much it angers Satan, when I praise my Father, as he throws his best at me. And it shows when he only seems to throw me more. I pray I am like Job. It is my hope that the Lord has looked upon me and given Satan the power to hurt me knowing that I would only praise the One who made me, and knows me, and loves me. And how gratifying it is to show Satan how much power he doesn't have over my soul!

And I'll praise You in this storm
And I will lift my hands
For You are who You are
No matter where I am
And every tear I've cried
You hold in Your hand
You never left my side
And though my heart is torn
I will praise You in this storm