All that stressing and all the Genetic Counselor wanted was to talk to me about payment options for Eric's sample. BUT I made the most out of her call and got lots of questions answered. First and foremost she and the Geneticist didn't seem concerned about Ava's elevated lactate level. Her answer to me was that that is a tough level to draw correctly and get an accurate picture. She offered that we get a repeat level. I declined as it wouldn't tell us anything, really. First of all it takes 2 weeks for the results and secondly why would we subject Ava to that kind of stress just because I'm worried.
We also were able to find out that the DNA testing on Ava will be back by the end of next week and we should have the results sometime in the last week of October. The hearing loss genetic testing won't be back until the first couple weeks of November. I was also able to find out that if Ava has a mutation on the POLG1 gene it would not automatically be a lethal diagnosis. Of course Eric's story is not encouraging, but people do survive this mutation. To what end will she be compromised? No way to tell. My soul cries out as I think of all the things my baby may have to endure. But I know she will be able to handle it. I just hope we can too. We can really learn a lot from our kids.
Today Ava was super sleepy. She got her two month shots yesterday. I hate shot day. Of course I would like the option of disease much less. When she was awake she was interactive. Grammy reports that she spied her batting at objects in her activity gym. But that is unconfirmed. While she was sleeping on my shoulder she used her arms and pushed her head off my shoulder. Allan saw it too. So that is confirmed.
In the next few weeks we will be getting news and having some big decisions to make. Right now we are both just weary from waiting and getting nervous knowing that we may just KNOW.
When I woke up today I didn't know how I was going to get through it. I was feeling low. But God gave me so many things to help me get through it. I got to spend the morning with Emily and Alexa for a preschool field trip and then a little girl time shopping trip to BJ's on the side. ( I know I really know how to live it up). My mother in law, who was watching the littlest ladybugs then took the biggest 3 out for lunch. I had time to have a much needed talk with a dear friend. Then I was able to enjoy some snuggle time with various combinations of little ones. When I felt at the end of my rope, Allan came home.
So for now we hang on and trust that God give us the strength and wisdom to carry on. This is a heavy burden, no doubt. However, it pales in comparison to that which Jesus carried for us on the cross.
Wednesday, October 14, 2009
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