Continuing On

I wanted to do a quick update on where we are with Kate. I mentioned last post that we would be going back up to UNC for Kate to get a spinal tap which would check her spinal fluid for vitamin deficiencies. Deficiencies in certain things could have been the cause of her seizures and would have been treatable.

We had the spinal tap done about 6 weeks ago. I am drawing a complete blank as I type on what the actual date was. It was an amazingly easy process! Kate did really well and the staff at the children's hospital at UNC was just wonderful. Kate had to be heavily sedated for the procedure which meant getting an IV. All of it went so so well and we were in and out in 3.5 hours!

Well, the results all came back normal. Ordinarily, normal test results are great news, but for us this was disappointing. It meant no treatable cause to her seizures. In my heart I really knew that the tests were going to be normal. I just had a sense that the "fix" wasn't going to be that easy. I have faith that God is doing so much in us and in others through Kate's challenges and that a fixable deficiency would cut those works short. However, the news was more disappointing then I was prepared for. It has led to several weeks of feeling pretty sad about the situation. I know we are going to experience up and down periods as we walk this through, and this has been a bit of a down time.

Our next step is to pursue more genetic testing as well as testing for a mitochondrial disorder (I'll post on this another time.) We have the privilege of being connected to a group of doctors at NIH who raises money for kids in situations like Kate's to have comprehensive genetic testing done. We are currently in the process of applying for that. If that falls through we will likely just pursue two gene tests. One to look at her MECP2 gene which would be looking for Rett Syndrome and the other would look at her sodium channel function (I'll explain more on this should it come up.) Genetic tests are expensive and not likely to be covered by insurance so prayers that we would be excepted for funding through NIH would be wonderful!

In the meantime Kate is continuing to receive therapy 3 times a week and we are starting to see glimmers of progress there! She is on a low glycemic diet now per our new neurologist (Dr. Corbier) and it seems to be helping with her cognitive function a bit. She is sleeping really well right now which is awesome! She is still not speaking more then 2-5 words a day and that is tough. We miss the sound of her voice and the cute little way she used to say certain words. We continue to be grateful for her sweet spirit.

Thanks for reading!