Results and Mounting Frustration

I FINALLY got through to the genetic counselor today. No she was not ill, she was there all week last week. When I found that out I made it clear that we need to work on communication. That we were on pins and needles all last week waiting to talk. I told her that we are talking about is our daughter's life and we need to be kept in the loop. I also made mention that the next step was to figure out who her supervisor was if we didn't get a response soon. I think it worked as she called me back with more information an hour and a half later. If we are going to be stuck working with her for awhile then we need to work on keeping us informed!

One result was in at the time of the first phone call. The sequencing on the DGOUK gene (one that causes mitochondrial depletion) came back with no mutation. This is good news, as I tend to think that what I've researched on this gene sounds a little more like Eric.

We were given very irritating news in our second phone call. Apparently there were/are problems in the lab at Baylor and results are delayed. The POLG1 gene will not be back for a week to a week and a half now. The other results will be in in a couple weeks. This also means that Eric's DNA testing is behind now too.

We are doing our best to make sure we keep Ava with us until we know what is going on. We've been holding off on the next round of testing until we know a little more information. We are now getting to the age Eric was when he became actively symptomatic. This is the most frustrated I've been in my life and Allan agrees without reservation. My frustration is turing in to anger. This does not sit well with who I am. I don't know what to do with it. I really would like to punch a wall or something sometimes.

All these white coats and no one really has sense in their heads that we are dealing with a tiny child who could get ill at any moment.

I struggle with how to parent our other children. I struggle with making sure I enjoy my last baby. I am furious that the simple enjoyment of being a Mom has never been a luxury I've been granted. Being a Mom is my dream come true. How I have not ever been able to assume any of my babies are ok or that they won't just disappear on me breaks my heart.

We are struggling with our pain and anger and don't really know what to do with it right now. It has taken all our energy to dig deep and hang on for a month for results. Now we have a week or two to go. We feel bone dry and alone.

Ava seems to being doing much better eating right now. That's encouraging. What is not encouraging to me is her head control, or lack thereof. Sometimes she does better than others, but overall not so good. It's so discouraging. Today I caught myself pretending that this was a horrible joke and that there is something anatomically wrong with her ears thus affecting balance and hearing.

Allan and I are sick of having to live in the past. We have to talk about Eric's illness and it's course. We need to remember as much as we can so we can try to prevent/avoid the mismanagement of the illness this time. We buried him nearly 6 years ago and now we have to relive so much.

Allan is quick to remind me that we don't have an answer yet. I know we don't. It's just so hard to hold on to hope when you've been hurt so deeply before.

I know that God is in control and is in each and every detail. I know that He loves us. I know that everything will happen in His time. I know all this, but tonight I don't feel it. I know I will again, but right now is not that time.