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.

Sam at 10 Months

Sam is going to be 10 months old on Friday and he has changed SO much since I last updated on him. I will do a head to toe review so that I can remember to include everything:)

His hair grows like crazy! I just gave him his 5th trim a couple weeks ago! He has a lot of wave and curl to his hair which is very different from Kate's which is stick straight.

He sprouted his first 2 teeth at 5 months old and then for 3 whole months nothing happened, then in the last 4 weeks he has gotten 5 more teeth! Thankfully he isn't bothered by teething or that would have been a very intense month. He currently has 4 on top and 3 on the bottom with the 4th bottom one on its way soon I think.

On the sleep front we have finally reached the golden "all night sleep." At 8 months he was still nursing once at 10:30pm and once around 4:30 or 5am. I realized that very early feeding was out of habit and not hunger and so we began working on cutting it out. He still wakes up and fusses for a bit around 5:30 or 6:30 but I just leave him be and he settles back until 7:45, which has become his very consistent wake up time. Yay! Next up we will work on eliminating the 10:30 "dream feed." I plan to do that by cutting it back to 10 and then 9:30 and then just leaving it out. If any of you moms have any suggestions, let me know!

In eating news, he is not a big fan of baby food. I am glad if I can get him to eat half a container. He wants table food and he loves to feed it to himself! He is a big meat fan and has gobbled chicken, ground beef with taco seasoning, and beef stew meat to name some:) He has also been enjoying pasta, grilled cheese, tofu chunks, and whole wheat toast (which he tried for the 1st time today and really liked.) Thankfully he does let me feed him lots of yogurt so I know he is getting some good fat and protein from that. All that being said, nursing is still giving him the brunt of his nutrition for now and I think that will remain the case until he is able to handle a wider variety of table food.

He has learned to wave, clap, do a variation on the sign for "more", play peek a boo, and raise his arms up over his head when I say, "So big!" David and I are regularly amazed at the amount of language he understands and at the way he is able to get his thoughts across to us. We have just not had that experience yet due to all of Kate's difficulties and it has been so much fun to interact with Sam! David and I were just saying this week that we can't wait until he starts talking because we can't quite figure out what his personality is going to be. Sam is very happy, but quick tempered, often a charmer, but also impassive at times. He keeps us laughing that's for sure!

Following in Kate's footsteps, he is a late crawler. He can lunge forward almost on to all fours to get a toy, but then sits back down. He also isn't sitting up from a laying position or pulling up to standing. His doctor thought it was probably due to his size and that we didn't need to worry yet because he is on track in every other area. He is cruising all over the place though! He has even taken a few unassisted steps! He regularly grabs a toy and then stands with no support while he examines it. He has figured out how to reach down and pick something up off the ground and is more interested in doing all of that then learning to crawl or having tummy time:) He is going to be like a wind up toy, he'll need me to stand him up but then he'll go off on his own!

Some of Sam's favorite things right now are: Daddy! He gets SO excited when David comes in the door each night and we think he is referring to David as "da da" now. Babbling LOUDLY! Using Kate's ride on car toy to cruise around with. It's his favorite because he can use the handle on the back to go in one direction, then he moves down to the handle bars to go back the other way. You can see the look of pride on his face as he gets all over the house! This toy also plays music and he'll push the button and then start bobbing up and down while holding on the handle bars. It's super cute!

Ok, I think that's enough:) Kate is going to be 3 in two weeks! There are lots of exciting things going on with her so I'll be posting soon!

Learning

I am learning to use David's big camera and here is a (large) sample of my beginnings.

Summer Sam

Checking out the Air and Space museum with Daddy!

I brainwashed him into loving this dog "lovey." He loves to sleep with it stuffed under his face like this:)

Sleepy face.

Smiling sleepy face!

What To Say?

I have been feeling for awhile that I should update on Kate, but I don't really know what to say. There are so many questions I have with no answers, so many thoughts, and so much emotion that I don't know how to compose it into readable material.

There are all the clinical facts. She is still having 1-4 seizures a day. Is on two different medicines the second of which we have been increasing the dosage of for 2 months straight trying to make a difference in her seizure activity. She is having side effects pretty much every time we bump up to a new dose but they seem to resolve after about a week...just in time to bump the dose again. She is in a period of having difficulty sleeping too, probably related to all the changes in medicine.

I can't tell you how much I want for her to get to a place where medicine is working and we can be stable for a time. I often worry that won't happen to be honest. It is hard to be giving these powerful medicines to my little girl and not be able to have her tell me how they make her feel. I worry if they will have long term effects on her body. I wonder if there are other avenues of treatment we should be pursuing and how would I find them? Am I doing all I can and being responsible? I am praying for God to lead us in wisdom. We need it so badly. I was reminded today of the scripture to be strong and take heart, and wait upon the Lord. It is hard to do, but not impossible because He is caring for us. And He is caring for our Kate. We have seen evidence recently that He ministers to her in ways we can't know and that has meant to much to me.

Kate does seem to mostly be doing well. She is very happy and makes some small developmental changes from week to week. She is really enjoying playing with Sam when he is in his exersaucer or johnny jump up. She has loved the times we've gone to the pool this summer and has gotten really good staying upright in the water with a little floatie around her middle. Real Simple magazine provides her unending amusement and she has dogeared several of my issues. In her therapy she is learning to put stickers on paper and color without eating the stickers or the crayons (baby steps friends, we make baby steps:) Laura, our therapist, has a little plastic birthday cake with candles that light up when you press a button and then the cake sings "Happy Birthday" and you can blow the candles out. It's really cute and Kate just loves it. She says "hap birtday!" and asks Laura for the cake first thing when she arrives. Those are a few little peaks into her life right now. I want to be grateful for each little step we see and not just look at the massive amount of things I hope to see in her. Kate isn't distressed about where she is developmentally and I don't want to be either!

Well, it is quite late and one or both kids will be up in the night so I should go get some rest. Thanks for reading and thanks even more for all your prayers. Nothing means more to us then prayers!

A Big Month for a Big Boy

Wow! Sam is 6 months old (as of June 14th.) The last month has brought a ton of changes for him!

-He sprouted his first two teeth (bottom left, then right)

- Learned to sit up.

- Can hold and examine toys and get them to his mouth, also transfer from hand to hand (this, combined with sitting, makes for wonderful play times for him!)

-Started solid foods which he devours without spilling more then a drop or two. So far he has had sweet potatoes, pears, and carrots. He has eaten all three with equal eagerness. I love how he opens his mouth and sometimes sticks his tongue out for another bite!

-He has begun holding his arms out to the sides when he wants to be picked up. It is one of the cutest things I've ever seen. If I ask him if he wants "up" he'll hold out his arms and wait for me to get him. Adorable I must say!

-He has gotten a little habit of slapping his right hand on his leg, or high chair tray, or whatever is there. It's really funny.

I took him to his 6 month appointment last Monday and his stats are as follows: 20 pounds 4 ounces (90%), 27 inches (75%), head is 43 cm (25%.) I asked the doctor if it's bad for his head to be so small compared to his body. She said that because he has followed the same growth curve and is meeting his milestones there is no reason to worry! While he still has some flatness to his head we are still waiting on the helmet because it has gotten better. His doctor doesn't think he'll need one at all!