Tuesday, April 16, 2013

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!

4 comments:

  1. You are amazing parents and she is so lucky to have you both. I will pray that those tests are wrong and that the only diagnosis is CP. God bless you and your family.

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  2. it is wonderful to see Anabelle's sweet smile on Tuesdays! She is a delightful young lady!
    My prayers are always with you!
    love and blessings!

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  3. Big hugs to all of you! Love you so much!!!

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  4. As a friends of your moms, she has kept me up to date on Anabelle's progress, and I ready our blog faithfully. I'm keeping all of you in my thoughts and prayers. Your faith is amazing, and it will continue to keep your strong, and get you through these darkest of hours. God bless you all..

    Jackie Guthrie

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