Wednesday, January 28, 2009

news from the geneticist...

Dr Kayser called and said they got some of the results back from the biopsies. He said the muscle tested perfectly normal and the liver was sick, which we knew, but the pathologist said that he couldn't appreciate the mitochondrial DNA depletion from the liver itself, and if he didn't know of the family history of this he would diagnose as galatosemia. They do test for this as newborns, but he said if it came back borderline, they may have thought nothing about it. So he is requesting her newborn screens from SJ tulsa and I am taking her to his office tomorrow for her weekly lab as well as the test for this. I am trying to take this as good news, I know that both the babies before were also tested for this and it turned out to be the other.. so I am undoubtly still wary to shed my fear.. if it is by chance the galactesemia, we are not sure yet if the liver could correct itself or if a transplant or other treatment may be necessary. It depends on the damage done.. So we are still waiting and praying and thinking positive thoughts. I love her so much and just want a miracle to happen and just wake up one morning and everything be perfect.. BUT as I have said before, we will do whatever it is that we need to do to get her better. as long as there is breath in my body, I'll never give up on her..

Oh he did seem pleased that her sugars are staying above 70 and that she is not behaving ill... other than the tooth situation :)

Isn't she just beautiful?!?!


3 comments:

Katie said...

Oh Jenny, I just keep praying for your beautiful little girl!

Katherine said...

She is absolutely BEAUTIFUL!!! Sending good thoughts your way!

Rachel said...

She is so gorgeous! We keep praying for her! And all of you!