Zebras and Horses

I awoke this morning feeling bleak. OK, the first thought I had was actually that the Yankees did win the World Series and I didn't dream it. Then, bleak. I have been trying to prepare for Ava's neurology appointment all week. I knew her head control stinks and didn't improve in a month. I wanted to cancel so I didn't have to hear what the neurologist would tell me.

To bide my time I emailed the ENT, talked to the local geneticist. What any Mommy would do while waiting to see the Neurologist, of course. I prayed the whole time. On the drive I realized that all my thoughts and theories are being ruled out and dwindling. I felt that the neurologist would see the head control and I would have nothing left to focus on except the diagnosis I so don't want.

I did not feel anxious. Just was preparing myself. I wanted to make it clear that while we are looking for a Zebra, so to speak, we don't want to overlook the fact that we may just have a horse. I know we had one zebra so of course we are pointed in the direction of the stripes. However, having one zebra doesn't mean I have to have a whole herd.

During her evaluation our Neurologist (who called us on Sunday because he was thinking about Ava and wanted to know how she was doing) told me that her head control is no better than a month ago. I responded, "I know." He responded, "I know you know." He finished his exam. Neurologically she is better in other areas. He then told me that he was going to be straight with me. I told him I knew that and that is why we are there and why I didn't want to come.
He told me that Ava is beautiful and a fighter. He said that he would feel better if her head was better. I told him, "You and me both." I thought 'OK God- that went well. Thank you for getting me through it.'

Then I started to talk about Ava's weight and all her struggles with that. I told him about her changes in suck and ability and we talked about how much she eats. He wants to get her to eat more a day. He looked at her and said, "You know poor head control can be due to insufficient calories." My heart sang. Secretly I was hoping that that was the case, but didn't think it was plausible. So we are looking into a feeding tube to help her increase her intake. She will still use a bottle and this is not permanent. It will go through her nose. Then he said that we won't have any of the DNA results for awhile so we need to focus on her calories and maybe all our worries will go away.

That last sentence is the desire of my heart. Oh Lord can it really be???

So not without struggle, I don't think an NG tube is a picnic, but maybe we can beef her up and turn her around.

Through despair, we are given a glimmer of hope.

Currently I am back on my working theory that we can have a poky hearing-impaired preemie. As a result of some research I've done, I have been wondering if the gene mutation that Eric suffered from was DGOUK not POLG1. We are trying to decide with our genetic counselor if we could have the lab at Baylor sequence that one first. (This may be possible since they are behind and haven't touched Eric's DNA yet.) This would be awesome as we know Ava does not have a DGOUK mutation. I sure hope I'm right. I know that I very well could be wrong. But I'm going to go with it because I'm tired of feeling despair.