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.