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!
