Saturday, June 28, 2008

mtDNA Sequencing...

I had 4 minutes today with Dr. Shoffner and he gave me the results we have been waiting on since November. We learned today that Ana has... not one, but two... yes, two mtDNA mutations. Not only are there two mutations in her mtDNA... one mutation is extremely rare, only found in 0.22% of controls... and the other mutation has never before been seen. You are probably asking, "What does this mean for Ana?" Well... it isn't good. There is no prognosis because there has never been a case like hers. The plan is research. Dr. Shoffner has begun research on her DNA and we will receive the results in a year or so. The research may or may not give us any answers... so for now... we will pray. The only treatment is extremely high doses of CoQ10 and the management of symptoms. If you are interested in learning more about mtDNA sequencing, just type it into your search bar and read the literature. There is no way I can completely explain it, so doing your own research it the best option. Thank you for continued prayers and all of the wonderful comments. Please continue to pray for Ana and our family.

1 comment:

  1. Carla (Choosing His Joy)2:25 AM

    My kids have incredibly rare conditions....they are the .01 percent, so for us too there is not prognosis. I see that as a good thing; I dont want some book to tell me whether my child will live or die of what disease they have. The book doesnt know...only God knows. Without having an earthly prognosis, it frees you to only trust in God's plan for Ana's life, including when she will be here and when she will be in heaven with our Lord. When you look at it that way, I find that it is not a whole lot different than any other child. No one knows how long anyone will be here....only the Father. I will be praying for you all, and I hope this brings you as much encouragement as it brought me when I first heard it.

    Love,
    Carla MWP

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