Monday, December 31, 2012

Updates and Celebrations

Well, I figured it was time to post again and keep everyone up to date on Kinsley’s goings on! We’ve had a very busy couple of weeks. Kinsley (and her mommy and daddy) have met with a new doctor, she had a speech therapy evaluation, she turned 1 year old (!) and had her second Christmas, but the first one celebrated in Alabama!

I guess I’ll begin by telling about Kinsley’s medical updates. Two days before her birthday we met with a developmental pediatrician who will be one of Kinsley’s doctors for many years to come. This was our first meeting with Dr. Karkos and we were a bit hesitant going into this appointment mostly because she works in the same clinic as the unnamed terrible neurologist I mentioned in my last post. However, thankfully, Dr. Karkos was MUCH better than him and we are very happy to have her on Kinsley’s team. One thing we found out at the appointment is that she has worked with three other children before who had one of the syndromes that it is suspected that Kinsley has. First of all, we were very surprised and greatly pleased to get this news simply because as of yet we had not met with any doctors with any experience with WWS or MEB. She stressed that her experience was limited, but we were just happy to know she has ANY experience with it. The other great thing she told us was that based on her experience, she thinks Kinsley “is AMAZING.” Those were her words. She told us that having read about Kinsley’s condition ahead of time, she was expecting something different than what she saw when she actually met Kinsley. She told us that Kinsley is the most well off of the babies she’s worked with with these syndromes. So, suffice it to say, her encouraging words helped win us over. Other than that we didn’t get a whole lot more new information. She mostly explained how she will be helping us as one of our doctors – making sure Kinsley is receiving all therapy, treatment, equipment, etc. that she may need in the years to come. That was the main extent of the appointment. We will see her again after six months.

In other medical/development news, Kinsley finally got to have her speech evaluation a couple of days after Christmas. As expected, she has delays in both expressive and receptive language. We were already aware of this, but in order to receive the therapy there has to be an official evaluation done to get insurance to cover the therapy. Having been through three other evaluations before, we are aware that now we will wait for paperwork to be filed, passed to the pediatrician and back to the therapists and then another meeting before therapy actually begins. So, it will probably be three-four weeks until then. Once it begins, she will go one or two times a week for 30 minutes a piece. Please pray for it to begin soon as I am anxious to get it started. If this therapy goes in any way like the rest have then Kinsley should make great gains with it. I am praying so hard for that because I want so much to have some form of communication with our little sweetie. I will say I have hope because in the past few days she has begun to babble more – putting multiple consonant and vowel sounds together in longer strings. She’s done this some before, but not as much as she has the past two days, so please pray that it’s progress. Also, she seems to be learning how to give kisses! I don’t think she understands the word yet, but she definitely seems to understand that when I pucker my lips that she should lean forward and put her mouth on mine. So I’m taking these things as signs of more good things to come.

As for the rest of life, things have been super busy. Kinsley had her first birthday!  Praise God for a wonderful first year with our sweet girl with no sickness to speak of. Knowing what we know now about her condition, we know to thank God for each year that our sweet girl is with us and take each year as a blessing. We just pray that we have 100 more to come! To celebrate her birthday, we spent the night with Luke’s parents and had a small party for her and Luke’s brother, Jared. Kinsley and Jared both have December birthdays, so they got to celebrate together. Unfortunately for Jared, I think Kinsley’s birthday haul somewhat out did his. :) Unfortunately for Kinsley, her mother is not too bright and I scheduled her 12 month shots for the same day! Therefore, she was not in a good mood the rest of the evening as you will see in the pictures below. Presents were not all that exciting and singing "Happy Birthday" brought out the bawling. She did stop crying when she got to try her cake! That definitely got her attention and had us all laughing.

The next evening we began our journey to Alabama for Christmas with my family. And what a busy journey it was. We stopped that night for a wedding in Eureka Springs and then traveled (quickly) onto Searcy to spend the night. The next morning we had breakfast with Jared (whose home we’d stayed in) and then hit the road again. On our trip we stopped for a meet up with my college roommate, Lydia and her husband and two darling boys. We only got to see them for 20 minutes or so, but it was worth it! We then (finally) made it to my parents’ house in time to change clothes and then head to my grandfather’s house for an Open House Christmas party. Whew! And that was just the beginning of our visit. The next day was Sunday, so we had church services in the morning and evening and Kinsley’s big birthday party that afternoon. Most of her Alabama family was in attendance for her tea party. We themed the party around one of Kinsley’s favorite toys, her Fisher-Price teapot. I have to give all the credit for the planning and prep of the party to my wonderful cousin, Mallory, my two sweet Aunts Lisa and Jana and my amazing mother, Donna. This party would not have happened without them! The only thing I helped with was making the edible teacups used to put the ice cream in. My sister and I made them the night before and dubbed them the “Pintrest failures.” Neither she nor I got the creative gene the rest of the family seems to possess! You can kind of see them in one of the pictures, but no close ups!

Anyway, the next day was Christmas Eve, which we spent with my mom’s side of the family and on Christmas day we celebrated with my dad’s side. Kinsley got way too much stuff. But, we had a wonderful, packed holiday with much fun, but most of all the joy of being with family. And did I mention that Kinsley got way too much stuff. Cause she did. It’s still sprawled all over my living room although I feel as though I worked very hard to put much of it away already! However, I’ve decided to see it all as just another blessing we have because Kinsley has a great big family, all of whom love her very much!

Please enjoy the pictures of Kinsley’s birthday and Christmas below. But, most of all, PLEASE, continue to keep our sweet girl and her parents in your prayers. If I let myself, I would cry each day about what our Kinsley girl is having to go through and some days I let myself, but mostly I take those moments to say a prayer that God is with her and with us through this all and I take comfort in knowing that.

Mark 9:24 - “Lord, I believe. Help my unbelief!”
Birthday girl on the actual day.
Looking at one of her presents.
See how she loves when we sing!?
 But the cake is good!

Wearing the beautiful dress and bow made by my aunt at her tea party. (My mom did the hem!)
Teapot cake inspired by the teapot toy. The cake was also made by my amazing aunt!
Cake is good! Again!
She likes the book presents!
Beautiful girl on Christmas Eve.
Reading one of her presents on Christmas day.

Sitting on her birthday quilt made by my other amazing aunt (with help from my mom!)

Monday, December 17, 2012

An Update on our Daughter

Where to start. Hmm. How does one start a post like this? I guess I’ll start with my precious girl. Kinsley is the best baby ever. Her daddy and I tell her so often. She has the prettiest blue eyes and longest eye lashes I’ve ever seen on a girl (thanks to her daddy!) When she smiles my heart melts and nothing can bother me in that moment. Her giggle is something for which I am willing to be as silly as possible for without any possible embarrassment hindering me. She loves to be sung to, but only if you know the right songs (“Head and Shoulders, Knees and Toes”, “London Bridge is Falling Down”, and “Jesus Loves the Little Children” are a few good ones in case you were wondering). Kinsley thinks swinging, going outside, and the iPad are some of the best pastimes around. She has a snail toy, turtle toy and a teapot which we would be lost without because they can seemingly entertain her endlessly. Kinsley is the best baby ever. Period.

That being said, I wanted to let everyone who is interested in on what is happening with our precious girl. At around six-seven months old I started to be concerned that Kinsley wasn’t meeting all of her milestones like she is “supposed to”. She was able to roll over belly to back and back to belly, but was not sitting up on her own nor did she bear any weight on her arms while she was lying on her belly. Also, I have a dear friend whose baby was receiving physical therapy at the time and she was explaining to me why she was getting it. She talked about low muscle tone, something I didn’t understand, but when explained, seemed to describe Kinsley in some ways. I took her to her pediatrician at the beginning of August suggesting that I thought she may need to go to physical therapy. He did not seem too concerned, but he did feel her trunk muscles were weak and that physical therapy and occupational therapy evaluations would be helpful for finding out if we needed help with everything or not. They way things go in the medical world it took a few weeks to get the first evaluation, but the day after her 8 month birthday she had a physical therapy evaluation. We spent about an hour with a wonderful therapist who worked well with Kinsley and tested her in many gross motor skills. At the end of the evaluation she explained that Kinsley did indeed have low muscle tone in her trunk muscles. She also noted that it seemed Kinsley had high muscle tone in her legs. She further explained that tone was something triggered by the brain and that for some unknown reason Kinsley’s brain was sending the wrong signals to her muscles on how to work. 

Of course this was somewhat shocking and rather concerning to me and later, to Luke. We had had no indication up until then that there may be something “wrong” with our little girl. The therapist suggested some possibilities about what may be causing the tone issues, but also said there would be no way to know for certain until we met with a neurologist and began some testing and that even then we may never find a cause. At that point we worried and prayed a lot, but held on to the hope that this could be something she would work on in therapy and eventually outgrow.

To make a very long story only slightly less long I’ll sum up the next few months. Kinsley had an occupational therapy evaluation next and qualified to receive therapy there as well to work on fine motor skills. We met with a neurologist at the end of September and he suggested some routine tests for kids with developmental delays. We had an EEG done that day which came back abnormal. She was, thankfully, not having seizures, but she did show some brain wave patterns consistent with development delays. Once again, not good news, but nothing surprising and nothing really noteworthy. We then had to wait over a month for an MRI to get some pictures of her brain. We had to go to Arkansas Children’s Hospital for the MRI and Kinsley was sedated for the procedure. Not a fun day for us, but we made it through and she was a real trooper. The next hard part was the waiting. We waited weeks, right up till two days before Thanksgiving, to meet with the neurologist to receive the results.

As much as you try to prepare yourself for bad news it is still horrible to experience it. Our appointment with the neurologist did not go well. Without going into detail I will just tell you we will not be seeing him again as he was not very professional. However, he did inform us that Kinsley’s MRI showed symptoms of a couple of rare genetic disorders called Walker-Warburg Syndrome and Muscle-Eye-Brain Disease. She has several problems with her brain including cerebellar cysts, a cobblestone effect in the back of her brain called Type II lissencephaly, a lack of myelination in areas among other things. Of course we knew nothing of what those things meant at the time and we don’t know much more as of now. Each of the syndromes is a form of congenital muscular dystrophy and affects the muscles, eyes and brain (as the one name would suggest). If you try to Google these syndromes you won’t find a ton of information, but you will find a lot of horror stories and bad news. The neurologist did not give us any details, but just repeated over and over how our daughter would need a lot of care for the rest of her life (as if we would ever consider throwing her out or something) and suggested we see a geneticist. So all we had were a few names and a bad MRI to go on. We went home and used Dr. Google to try to better understand what we were facing. Like I said before, you can see a lot of bad things online suggesting a shortened life expectancy from death before a year in the worst cases to death in childhood in other cases and in the best cases living up to 70 years. You will also read about the likelihood of the child having profound mental retardation due to the problems with the brain’s development. It’s devastating news, to say the least. It is very hard to even type those words.

So where did that leave us? We had nothing concrete to go on and our “amazing” neurologist had scheduled an appointment with a geneticist in Little Rock for the end of February. Of course we did not want to wait that long to see one, so we called our pediatrician and since he actually IS amazing he got us an appointment with the very same geneticist the very next week. Preparing for a difficult appointment, we made our way down to Little Rock on November 28. There we met with a geneticist and a genetic counselor. These very kind and knowledgeable ladies were much more helpful than our neurologist (thankfully!). First, I should mention that we do not have confirmation yet about whether or not she has one of these syndromes, but I would say it is very likely based on the MRI and her symptoms of low tone and delayed milestones. They drew blood from Kinsley while we were there to do some genetic testing to try to confirm her condition. This may take up to six months.

What was good about the appointment was their willingness to explain. They did not give us any new news about Kinsley’s condition, but the were much better about explaining things and answering our questions. They reassured us that we had no reason to fear Kinsley passing away anytime soon as she is a very healthy little girl (she’s never even had a fever!). They also explained that these two syndromes which are similar to one another are on a spectrum of severity and at this point we have no way of knowing for sure how affected Kinsley will be, but we can be positive about the possibilities considering how healthy she is and how well she has responded to therapy and has made progress in her motor skills. They set no limits on Kinsley, but we were given some expectations to be realistic about. They said we should be positive about Kinsley continuing to gain motor control which is a good thing. Many children with WWS cannot even hold their heads up and with MEB many never sit up, crawl or walk. At this point Kinsley can roll over and sit unassisted and she continues to make progress each week in her therapy sessions along with help from me at home.

We were cautioned that we could expect some communication problems. They suggested she may never speak (as many children cannot with these syndromes), but that we may have to teach her alternate forms of communication like signing or using communication devices. As of now Kinsley cannot say any words and she does not understand any words yet. This is something we are choosing to leave up to God and we pray fervently that he will open her mind to begin to understand us. She is supposed to have a speech evaluation soon and will hopefully begin speech and language therapy after the new year.

Beyond that we do not know what to expect. Our goal is to not set limits in our minds about what she will or will not be able to do while at the same time maintaining a realistic awareness that this will affect her for the rest of her life. We are choosing to just live one day at a time and enjoy Kinsley as she is and not worry about the future. We know no one is promised a future and if we lived in fear of what that could be, we would never enjoy the present. So, right now we are continuing with her therapies and praying for the best. Kinsley currently receives physical therapy twice a week to work on gross motor skills, occupational therapy twice a week to work on fine motor skills and development therapy once a week which combines working on physical, social and cognitive skills all in one. Each of Kinsley’s therapists talks about how well she is doing and how she makes good progress each week. Within weeks of beginning therapy she was able to sit unassisted. We are maintaining a positive hope that she will walk eventually. Her physical therapist believes at the rate she is going now we should see that happen within the next year! Her developmental therapist is greatly encouraged by Kinsley’s ability to play with toys appropriately. She understands the cause and effect of how to make them work which is a great sign for cognitive skills. And in occupational therapy she has learned how to reach away from her body to grab things she’s interested in. She can also bang two objects together now! Next step will be clapping! To some this progress may seem small or slow, but for us they are all huge and we thank God for them each day.

For Kinsley, maintaining good health and continuing to make developmental progress are the two biggest prayers we need right now. If you are (still) reading this and are a person of prayer, please add our sweet Kinsley to your permanent prayer list. With her brain issues, she is at an increased risk of having seizures. Thankfully she has not shown any symptoms of that at this point. We DO NOT want this to begin as seizures can further affect her development by hurting her brain more than it already is and by causing regression in areas she has made gains in. Please pray for this not to happen. Pray also for her therapies to continue to help and for her to continue to work hard at them and try to enjoy it more (she is not really a fan of therapy since it requires her to work her body out and who enjoys that!?). And, please pray for her Mommy and Daddy to remain positive, and have peace and acceptance of this new way of life for us. Some days are easier to do that than others.

We know God has a plan for our sweet girl and for us all. We did not foresee this in any way, but we know God gave us this special girl for a reason and we want to fulfill his will for us all in raising her as he would have us to. Something I’ve tried to focus on through all of this are the words of God from Jeremiah 29:11:
“‘For I know the plans I have for you,’ declares the Lord, ‘Plans to prosper you and not to harm you, plans to give you a hope and a future.’”
I’ve turned to this verse so often in my life when I didn’t understand what was happening or why it was since it wasn’t according to MY plan, but like the verse says things don’t always go according to MY plan. I will live according to God’s plan and that’s a good thing since he plans to prosper us, even in this difficult time. Now, please pray that I always remember that!
Well, if you read through ALL of this then you must really love us. Thank you for reading and most especially, thank you for praying. I plan to keep this blog updated with news on Kinsley’s progress and information on her prognosis. If you are interested please come back and read more and we welcome your words of encouragement!