Tuesday, June 9, 2009

Genetics Update

The genetics counselor called today to tell me that Harper's tests were normal. Good night, can they make up their minds? The ENT clinic told us that she tested positive for the Connexin 26 gene mutation. Then, the geneticist told us that she was only a carrier for the Connexin 26 mutation so they did further testing. He felt sure that one of the tests would come back positive. Unfortunately not. You may be thinking, "Why does this crazy woman want the test to be positive??" Well, it would really help to know what we are dealing with--if the loss will progress, what type of therapy works best, or if any other body parts (eyes, heart, kidneys) will be affected.
What next? Harper will have a CT scan of the head to check for any structural abnormalities. Poor Harper will have to be sedated again and that means getting to Children's super early on an empty tummy. After putting her through all this, I'm just hoping that we'll get some answers.


  1. When will she have to do the CT scan?

  2. oh Katy we will definetly be praying for you ,
    Harper and the Dr's.... hopefully you can get some answers and peace of mind soon!!

  3. Katy, I can't even imagine what you are going through. Just the "not knowing" would be an incredible struggle...praying for you!