Saturday, June 2, 2012


Important background info for this post: Both Addison & Audrina's newborn screenings came back abnormal for a possible hemoglobinopathy/hemolytic anemia disorder. Addison was followed by Mott for months and they were always awful at trying to explain to me why it was abnormal and I frankly was at the phase still with things where I didn't know to ask the right questions or demand further explanation. Decided at her one year checkup to move specialists to the local hospital for things that were non-critical, like her mild anemia. This new specialist can't believe we never had Hemoglobin Electrophoresis performed at Mott. She orders it for both girls and tells us she will see them both when results are in.

So Audrina had her first appointment with Dr. J.... She was like, before we talk about Audrina, I want to talk about Addison. We discuss her complex history and look at the lab trends, hemoglobin is low but not ever dangerously so. She tells me Addison's Electrophoresis is completely normal.

Then she brings up Audrina's results and explains that they compared them side by side. Audrina is producing an unknown variant hemoglobin - she sent it to Mayo Clinic who has never seen this one before, but because of where its bandwidth falls, it would not be associated with life-threatening anemia. Other than that, they can only guess that it will cause moderate to severe anemia, and treatment will be a course of regular blood transfusions if the trend continues. Her hemoglobin hangs out between 7 and 8 most of the time. They are nervous because of the possible impact on her cardiac issues. She is so close to needing a transfusion that they don't want to draw her blood to check her CBC. So what have they decided to do? Draw me and my husbands instead. I am glad to be able to save her a poke.

Their theory is this:

Either Adam or me (or both) is carrying this unknown variant ourselves. Addison is a carrier - but her diagnosis is actually anemia of chronic disease due to the metabolic issues. The older girls are not carriers(as far as we know). Audrina appears to be affected with it possibly. Okay, so back to Addison.We cannot give oral iron, so if she dips any lower they will begin a 4-6 dose regimen of iron infusions. Audrina worst case scenario would need regular transfusions. Its another wait and see game.. but I love the doctor and I must have thanked her a million times for actually explaining it all to me so well.


  1. Kim,
    So good to hear from you. I had been looking every day and wondered what was going on! So glad that you can do somthing you enjoy and can build in to others with the cheerleading! See you soon. Leslie

  2. Congrats on the new job. It will be a great little get-away moment for you, I'm sure. Looks like you hit the jackpot with this new doctor. Hope she is able to provide more answers for both Addison and Audrina. Continued prayers!