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!

Kate

Hello All, sorry it's been so terribly long since I've given an update on Kate. I just haven't had it in me. But I know many of you desire to keep up with what is going on so you can pray and for that I am so grateful.

As you know, we have been dealing with seizures and developmental delays for two years now. We have not been able to get much information from our doctors and medicines have been largely unhelpful, though she is currently having seizures only while sleeping to the best of our knowledge. We are greatful for this! However, our best guess (our doctor agrees) is that it is these sleep time seizures which are causing all of her developmental difficulties. Kate has made almost no developmental progress in the two years since her seizures began. This is very discouraging.

Most recently, we took her up to The University of NC at Chapel Hill to be evaluated by a pedicatric epileptologist. While we weren't able to get any definitive knowledge at this time he had many ideas of what could be going on as well as tests that can be done.

He would like to rule out any metabolic conditions first (such as a vitamin deficieancy.) He indicated that a metabolic condition would be treatable and so it is good to test for those first. They have to do a spinal tap to find this out. We will go back at the end of March for that. Kate will be under sedation for it, but I am still nervous. It also seems too good to be true that all of this could be caused by something fixable. I want to pray and hope for this, but at the same time I find myself wanting to protect my heart from getting too excited.

If the spinal fluid comes back normal, then it will be time to do further genetic testing. Here is where it gets scary. You may remember that awhile back I posted about our concern that Kate has Rett Syndrome. Our current neurologist here in Charlotte ruled that out we thought but, Dr. Tennison (the Chapel Hill doctor) didn't seem to think this was the case. Kate did have quite a bit of genetic testing so I am hoping she was fully tested for Rett and he just missed it. We shall see. A genetic condition would not be treatable, we could only try and manage the symptoms (more on this should it become necessary.) For now, please be praying that we do not have to put Rett Syndrome back on the table.

There is also the possibility that Kate has both Autism and Epilepsy. That can be hard to tease out, but hopefully we can get clarity on that with all the testing coming up in the next couple of months. This will be much easier to do if we could get her seizures completely under control.

So, I hope that is helpful to you all. If you have any questions please feel free to leave them in the comments, send me a FB message, or email.

A note on our hearts. This trial has proven to be so much longer and harder then David and I could have thought when it all began. Often, I get caught up in the day to day of life and having Kate the way she is seems "normal" in a way. Then, it'll hit me, wow, this is a huge deal. This is very serious.

If I am honest, I most often am selfish in only thinking of how this affects me. Of how it makes my life harder. David is so much less selfish, thinking of how this affects Kate. There are also times though when I realize how our world, broken by sin, is wreaking its havoc on my little girl.

And yet, in it all, God is teaching us. I don't understand fully what he is doing, or why it must be done this way. I have come to see that I don't understand a lot about God. I know he is going to continue to teach me as I press in. I look forward to walking more closely with him. There is much in my heart and I can't hope to express it all here right now. But I want to acknowledge what he is doing. I want to acknowledge that his grace is truly proving sufficient.

I will try and update when we know more. Thank you for continuing to pray.