Lately

So I realize it's been FOREVER since I've posted. Life is just constantly busy and every time I found myself with time to sit down and type I've decided I'd rather read, watch Netflix or nap. Not to mention that I spent the last two months trying to get 60 hours of professional development in by May 31 while Kinsley napped just to keep my license up to date so I can maybe sub once a month or tutor or SOMETHING next school year. Of course I should have done many hours in previous months, but I was a tad distracted. But I digress.

Kinsley has had a busy month and a half since I lasted posted. We added a third medication for her seizures at the beginning of May in an attempt to get them totally under control. She started taking a steroid which had been shown to work well with other kids with similar brain abnormalities at stopping their seizures. We were told it would probably work to stop the spasms while she was taking it, but that there was a 40-60% chance they would reoccur as the steroid was weaned. Unfortunately this is what has happened. She took a full dosage of the meds for two weeks and we saw a nice 10 days seizure free. We saw Dr. Sharp, our neurologist and had an EEG during this two week period. Her EEG at the time looked "pretty good" to quote the doctor. It was not a normal EEG reading, but he basically said it looked as good as it could without being normal. He said there was no sign of the spasms effecting her brain waves at all. That was WONDERFUL news. She was only showing a few spikes on her occipital lobe during sleep which several other MEB parents have told me is similar for their children. Those spikes are very minor and do not require any extra help. Also despite these happening during sleep he said her sleep waves look great otherwise and she has been sleeping very well of late which we are thankful for.

The main issue with this good EEG reading was it's possibility of being a temporary thing. We were told at that appointment that we would wean the steroid down for five weeks and then go back for another EEG to see how things looked without the steroid in her system (in case you are wondering, she cannot stay on the steroid permanently because it's not good for anyone to do so). So this past Saturday was the last dose of steroids that she would take. As we've weaned the steroid we have gradually seen the spasms become a bit more frequent again. There does not seem to be a pattern to when they occur. We've seen them five days apart, then two days apart, then three days, etc., and now it's been seven days seizure free again. We're very happy to not see them so often, but obviously we want them gone for good. Unfortunately Dr. Sharp did tell us it is possible we will never get them under control completely. But he did say as long as they stay infrequent and her EEG continues to look good like the last one then we can be happy. Obviously it would be best for everything to be normal, but this would be the next best thing. So our next step is another EEG and appointment with Dr. Sharp this week to see how things look now that the steroid is totally weaned.

As for Kinsley's progress in development we continue to see slow, but steady gains for which we are always grateful. One wonderful development in the past month has been Kinsley's first signs of understanding some language! Yea for receptive language progress! About a month ago now Kinsley started to respond to the words, "Give me kisses," without any puckering from us as a clue. She just leans right in and lays one on you. Sometimes it's closed mouth, sometimes open and even occasionally with a bit of tongue. Obviously, we're not fans of the tongue kisses, but we just make sure to keep our mouths closed! Now she doesn't do it every single time we ask, but she has done it sooooo many times now that there can be no doubt that she understands it! :) Then a couple weeks later she seemed to begin to understand when we say, "Yea, Kinsley! Yea!" She's been working on clapping for a few months now and has been able to randomly do it since about February, but only when she felt like it. So whenever she did it I would always say, "Yea, Kinsley! Yea!" And we would clap along with her. So suddenly she started to get it. We would be working on a skill for therapy and when she would complete the skill I would say, "Yea, Kinsley," and start clapping and a few weeks ago she began to copy me with the clapping which was very exciting to see. So then I would just be holding her and I'd say it again and she now will (sometimes) clap just hearing us say it! I know this may not sound like much to some, but for us it's wonderful to see the beginnings of her understanding us!

Clapping girl

Physically the progress is still slow and we have not reached crawling or walking yet, but she is still getting closer and closer. She can maintain her hands and knees position for longer periods of time and even tries to reach for things while in this position, which is an important step in crawling forward, obviously. She also will rock her body back and forth which is a step before actually moving forward as it helps her body feel the motion of bearing her weight first in the front and then the back over and over. Walking wise she has been using a walker in therapy! She by no means can use it on her own and requires trunk support and for her hands to be held or tied to it (I know that sounds terrible, but they're really just wrapped). As I've mentioned many times before, she hates having her hands manipulated so this is something we're slowly having to accustom her to, but once again she is making progress! She's also making progress towards independent standing. We can hold her around her knees and have her support the rest of her body on her own. The lower we get our hands the closer she gets to independent standing! Please continue to pray for these endeavors for her.

First time trying out her walker. :)

She has also begun pool or aquatic therapy. We've gone twice for about thirty minutes each time and she seems to really enjoy it! She loves to splash with her hands and last time she literally splashed for thirty minutes straight. Her arms must have been sooo tired afterwards. She will also kick her little legs under water and just overall seems like she could be a great little swimmer eventually. For those of you who are wondering why pool therapy helps, it increases the resistance against her muscles, but takes gravity out of the equation, so she doesn't have to work as hard, but gets more benefit to her muscles. :) Yea! We also can work on standing on the steps in the pool and get the same benefits of making it an easier task for her.

Kinsley has also made great progress in self-feeding. About 80% of the time now she will feed herself finger foods right from her tray or plate! Yes! This is a great skill (and makes meal times easier on mama)! I'm still having to feed her anything that comes from a spoon, but I'm ok with that for now and she's making slow progress towards doing that herself too. She will pick up the spoon very rarely, but will take it from me sometimes and put it in her mouth, so progress. :)

Good self feeder! Good as in "feeds herself", not good as in "has good aim". ;)

In the vision area, we have seen a return of the eye crossing in the past few weeks. This was expected, though we were hoping not. This probably means either another round of botox to try one more time to see if it could help permanently or the other option would be eye muscle surgery. We'll see our eye doctor in July to decide. Kinsley did get her glasses a couple of weeks ago, though and I must say they are ADORABLE! At first I thought she was going to mess with them constantly as she did just that for the first little while, but honestly within one day she seemed used to them and really leaves them alone quite well. We are very pleased by that. As for how much they're helping? It's hard to say. Many, many people have commented that they think she has noticed them much more and has been paying more attention to what is going on around her. It's hard for me to tell. There have been times when I thought not, but then others where it seemed quite clear that she was seeing much further than she had before. So, we hope they're helping. But either way, we know she will always need them, so at least she is getting used to wearing them already and we know as she ages and develops more ability to move they will be more useful for her then.

Cutie with glasses

In the last couple of months our baby girl has grown into a toddler for sure. She looks so much older and her limbs are soooo long. She's a tall girl. :) Her are some pictures lately. (I'm not sure why some of the pictures are squished, but blogger won't let me try to format them. :/ Sorry!)

We continue to be amazed and feel so blessed by God at how well Kinsley is doing considering all the odds against her. We feel overwhelmed with love and support from all of our family, friends, and all you out there praying for our sweet girl. Thank you all!
1 Corinthians 15:57, "But thanks be to God, who gives us the victory through our Lord Jesus Christ."

Kupcakes for Kinsley

I need to share with you all about the wonderful support Luke, Kinsley, and I have received throughout this whole process of figuring out and learning about our sweet girl's condition. Obviously, Kinsley requires many visits to doctors, daily therapy sessions, prescription medications, testing, one hospitalization and of course travel to each of these things. Thankfully, we have pretty good insurance which covers quite a bit of this, but of course not all (and obviously it would not cover travel costs). Our trip to the NIH, although free for each appointment, was a somewhat expensive trip when you factor in costs for flights, hotel, car rental, public transportation use (because you do NOT want to drive in and out of D.C.—worst traffic ever), and food, things start to add up. 

In addition to that, right now Luke is the only one working. I loved my years teaching, but since finding out about Kinsley's needs we decided it would be best for her if I stay home and focus on helping her and teaching her to become as successful in every way as is possible. I love this new job too. However, being down one less salary does make things a bit more tight.

So, I say all of that to say many, many people including family and friends have been so very generous to us despite our insistence that all we ask for is prayers and encouragement. The most overwhelming generosity of all has come from our church family. When they found out about our trip to the NIH they did a special collection for money to help with our travel expenses. We only allowed it because they asked and we appreciated their desire to help very much. We did not however expect the $1400 they raised from the congregation in one week! We were somewhat overwhelmed. But that was just the beginning. The day after we returned from our trip we got to experience “Kupcakes for Kinsley.” This sweet, sweet event was the idea of one of our dear elders' wives. Unbeknownst to us they invited everyone in the congregation to bake their favorite or cutest cupcakes and bring them to an auction. At the auction everyone from the congregation bid on each others' cupcakes and raised over $2000 more for us! Below are some pictures of the fabulous cupcakes.

But, the giving did not stop there and has not stopped yet! A very kind lady from church who bakes cakes and such professionally took the “Kupcakes for Kinsley” idea and added more. She pledged to sell cupcakes for three weekends in a row and give us all the proceeds. Last night at church she said she's had 80 orders so far! I've tried to tell her it's too much, but she (and everyone) insists that it's not and that they just love Kinsley and us and want to help. And since we've been back we have continuously had people at church bring us more and more saying, "I didn't get to help earlier," or even, "I had some cupcakes and someone asked what they were for and then wanted to donate." Seriously, strangers have given money to church members to give to us. Did I mention that the generosity has been overwhelming?!

Suffice it to say the money raised has far more than covered our traveling expenses, so our plan is to open an account to save all the leftover money and all that seems to keep rolling in. I should mention that our church family is by no means the only people who've shown us such generosity. We've had many friends and family send gifts and money along this journey and this post is to thank you all. You are appreciated! We will use this to continue to see our wonderful new doctors in Bethesda once a year and to help fund our many trips to Little Rock each year to see our neurologist and (soon to be) muscular dystrophy team.

Now, my last note, this is by no means a plea for money, so if you are not one of the people I've mentioned tonight, please do not feel that you need to be! All we ask for is your continued encouragement and prayers for our sweet girl. :)

A Trip to the National Institute of Health Part II

For those of you who may have missed Part I of this post, here it is. The rest of this post won't make much sense if you haven't read it first.

So, picking up right where we left off before . . .

The last major thing we discussed with Dr. Bonnemann was the brain aspect of Kinsley's disease. We went through her MRI and looked at each brain abnormality. We first looked at her lissencephaly which is a cobblestone effect caused by malformation of the layers of the brain during development in utero. Kinsley has this at the back bottom part of her brain on the temporal lobe. This lobe is what controls vision, so at that point Dr. Bonnemann suggested that cortical vision impairment was a very real possibility. Thankfully, only a small portion of Kinsley's temporal lobe is effected and the rest is formed correctly. Dr. Bonnemann explained that this is very important because Kinsley's brain should be able to reroute any use away from the abnormal part and use the correctly formed part with success to see just fine. This would require vision therapy to accomplish, but otherwise should be able to be overcome. Yea! The brain is an amazing organ!

Next, we looked at her polymicrogyria. This is a weird word for a thickness in the top layer of Kinsley's brain. It has more white matter than is normal. This abnormality is only seen in the frontal lobe of Kinsley's brain. Dr. Bonnemann said the frontal lobe is not devoted to any specific task, so whatever goes on there should be able to reroute and work through a different part of the brain. Once again, wow! Brains, especially of those in infancy and early childhood, are amazing. One reason for Kinsley's delays in developing language skills could be explained by this. Right now it is not developing, but the brain is working to find an area of the brain it can use to develop these skills. Dr. Bonnemann said we should not worry that Kinsley will develop receptive language skills. He said she will, it will just take more time to come. Yea! As much as I've heard people say that it made it much more real coming from this man. Why him? I'm not sure, but I finally believe it! We did discuss the possibility that she may never speak, but he also said most children develop signs or use communication devices with success. But he also said speaking is not out of the realm of possibility. They saw one child recently who did not have MEB, but a different dystroglycanopathy (K's type of CMD) who knows and can speak hundreds of words. And they said he had worse brain abnormalities than Kinsley. So Dr. Bonnemann said that he will never rule that out for any child. So let's keep praying, praying, praying for our sweet girl to learn how to talk!

The last abnormality we looked at is something I still don't fully understand, so I'm sure I'll have a hard time explaining it, but I'll do my best. On Kinsley's MRI this abnormality looks like a lack of myelination. Myelin is a coating on the neurons in the brain which helps speedily send signals from the brain to other parts of the body. We'd been told up until now that Kinsley doesn't have myelin which would cause Kinsley to have each action she takes/makes be very slooooooow. However, Dr. Bonnemann informed us that this is not actually the case with Kinsley. She does have myelin, but it just appears that she doesn't on the MRI. He said the other neurologists and radiologists who said this would have no reason to think otherwise, but he knows differently because this is the main issue caused by Kinsley's MEB. This is where I get hazy. So, the gene that gave Kinsley MEB is called POMGNT1. On this gene she has two different mutations (one from me and one from Luke - we each only have one mutation which makes us carriers, but doesn't give us the condition). The problem with the mutations is that it causes a disconnection between a part of the gene and a protein. This disconnection is what causes all of the problems with the muscles, eyes and brain. Specifically with this third brain abnormalitity it gives the appearance of lack of myelination, but really the myelin is there, but there's a strange watery substance and the lack of the protein causes this. That's all I really understand about it at this point. But, I do know that this lack of a protein causes disconnections for understanding for Kinsley. So it seems to be the biggest problem. Dr. Bonnemann did say to expect some developmental disabilities associated with all of this, but the degree to which they will go will all depend on her therapies and how well she responds to them. He said we seem to be doing all that we can there and that we should keep it up. 

He did say it would be very important to get Kinsley's infantile spasms completely under control (as we know) in order to stop it from causing worse development (unfortunately at this point she is still having one cluster of spasms every four days or so). So he was making contact with other neurologists to see if they know of the best treatment of infantile spasms for kids with a dystroglycanopathy.

So the last thing I will tell you is the best news we received of all. Dr. Bonnemann told us about research he is involved in in developing a treatment through gene therapy. He told us it is a very real possibility that within three to four years there may be a treatment available that could help with her brain and muscle issues!!! They are currently looking at skin cells of children with the dystroglycanopathies to see how the protein disconnection I mentioned earlier works. They are comparing it to normal genes and working out a way to get that normal gene into a vector which they can give to kids like Kinsley. I'm not going to pretend to understand all of that, but all I know is there may be a treatment soon! Wow! We were not expecting to hear that at all and were totally unaware of this possibility, so we are very excited to say the least. PLEASE be praying for this treatment to develop quickly, to work and for the doctors and researchers working on it to be wise in their endeavors.

Our last appointment at the NIH took place the next day with the ophthalmology department. We met with a very kind doctor who complimented Kinsley and worked very hard to entertain her. Luke and I thought he was quite adorable singing The Wheels on the Bus with an accent and not the best singing voice, but very animatedly. He thought Kinsley's eye alignment looks great and said she is using her eyes together very well right now. He did mention (as we already knew) that the Botox injections would probably only work temporarily, but we still have hope that it will be permanent. He also dilated her eyes and checked them for us. He informed us that Kinsley's eyes now look myopic and that she is indeed nearsighted. She needs glasses. This was not a surprise and we're actually happy and hopeful that glasses with help her with further development. It is likely that her eyes will continue to get worse over time, but we won't know how much until it happens. He said she shouldn't become blind, but the more nearsighted the person becomes the more problems can occur. But, for now that's not an issue, so we're not going to worry over it until it is. 

After all of our appointments were done, we decided to stay an extra day to enjoy Washington D.C. We toured around some of the memorials including the Lincoln and Jefferson Memorials and got to see the BEAUTIFUL cherry blossoms in full bloom! We also visited the Museum of Natural History and the National Gallery of Art. Lastly, we got to see our Braves overtake the Nationals in a 10-inning, come-from-behind win! A wonderful, anonymous friend purchased tickets for us and got us amazing seats! It was a wonderful way to end our trip. We flew home the next day and we are glad to be back!

Lincoln Memorial

Jefferson Memorial

Enjoying the cherry blossoms

Beautiful shot of the Jefferson Memorial with cherry blossoms taken by Luke

Silly girl was loving the wind in her face

Go Braves!

OK, so I tried to be brief, but apparently that is impossible for me! Sorry! If you are still reading then thank you! My next post will be coming soon and will detail our amazing church family's support of us and Kinsley through this whole process.

A Visit to the National Institute of Health, Part I

Well, much has happened since my last post.

A few months ago I contacted a neurologist, Dr. Carsten Bonnemann, who I had heard about from a few sources as a leader in the field of congenital muscular dystrophy. I had his email address and decided I would contact him to see if he could shed more light on Kinsley's condition of Muscle Eye Brain disease since it is very difficult to get good information on such a rare condition. Amazingly, about five minutes after I emailed him he responded to my email. He said he would be more than happy to give us any information and that he would be interested in seeing Kinsley at the National Institute of Health (NIH) at some point. Luke and I were very interested in that possibility because at that point we still were not sure which condition she had and we'd been told Dr. Bonnemann was an excellent diagnostician of CMD and each of its subtypes. Our back and forth emails led me to emailing with the genetic counselor on his team about setting them up with Kinsley's information. We sent them all of her medical records and MRI including the information we later received about Kinsley's genetic testing.

The genetic counselor confirmed that Kinsley did indeed have MEB and she spent some time talking on the phone with me about her results, which I appreciated greatly. We were also informed that Dr. Bonnemann's team at the NIH were currently conducting a natural history research into congenital muscular dystrophy. The research study was simply collecting data and information about people with any subtype of CMD. They said they would love for Kinsley to be a part of the study and said if we wished to come that all appointments would be free and it would include a consultation with Dr. Bonnemann where he would answer any questions we had. After discussing it together and being reassured that there would be no experimental treatments or difficult, uncomfortable procedures done, Luke and I decided we would like to take Kinsley. So, about three weeks ago now, they contacted us with a few date options for when we would like to take Kinsley. We settled on April 10-11 and quickly booked a trip.

Sweet girl in her new stander a week before travel.

Kinsley was scheduled to have appointments all day on Wednesday and one on Thursday. Therefore we left home on Tuesday and arrived in Washington D.C. that afternoon (I should mention that the NIH is located in Bethesda, Maryland which is basically part of the D.C. area). After fighting rush hour traffic in our rental car we arrived at our hotel that evening, went out to grab some dinner and a few groceries for Kinsley before crashing for the night. It is also worth mentioning that Kinsley was a wonderful flyer. She was great on the plane and we had several people mention how good of a job she did!

Daddy and baby on the plane.

Sweet girl in the hotel.

The next morning we got up early and made our way through morning rush hour traffic to the NIH campus. You have to go through security and have your car checked before you can get on campus. It takes a bit of time, but they give you passes and then you can move on. We went through admissions first (although Kinsley was not being admitted to the hospital. This is just done for each patient who visits the NIH.) Around this time Kinsley began to be a bit fussy. I think she was just getting tired and ready for a nap, but unfortunately she wasn't able to fall asleep because of all we had to do. After admissions we went to the pediatric clinic to fill out more paper work and for Kinsley to get her vitals done (weight, height, blood pressure, etc.). All of this is normal stuff, but because she was tired (and I think feeling strange about unfamiliar surroundings) she screamed and cried through that whole process which was somewhat stressful on her mama and daddy as well. The next step was our appointment with the genetic counselor. She only wanted to go over our family history so they could record it for the research and then answer any genetic-type questions we might have. This should have been easy, but of course, Kinsley was screaming through most of the process. The counselor kept reassuring us that it was fine and not the first time they'd had a tired, upset child around, but I still felt horrible. However, finally, as the appointment was finishing up, she passed out on her daddy's shoulder.

We had about thirty minutes after that to wait for the next appointment which was with the physical therapy department. Kinsley slept while we waited and during the initial part of the appointment, but we had to wake her up for the PT evaluation. She did OK on the evaluation, but not the best possible, but I very much expected that. She would not show the therapist that she can roll over (this is because she still only does this on occasion during the day, but always at night. She still prefers to play on her back or side at this point and although she doesn't hate tummy anymore she will usually roll right back over to her back once she is on her tummy). She did however do some good sitting and side sitting as well as good assisted standing. They said it seemed like we were doing all that we should at this point, but added that it might help to try some pool therapy in order to build more trunk strength. I already had been wanting to try something like this with Kinsley this summer, so we're talking with our home PT right now about trying to get this set up.

After a lunch break we headed back to the pediatric clinic to meet with a neuro-muscular doctor. She asked a lot of questions and took down all of Kinsley's history. She did a short examination (checking reflexes, muscle-tone, etc.) and then left to share all of the information with Dr. Bonnemann. After waiting 25 minutes or so (during which time Kinsley began to become tired and fussy again) Dr. Bonnemann and several people from his team came in. During that time he did another short examination of Kinsley (including holding her hands as she walked towards me :) ), answered every question I could think to ask and explained as much to us as possible about everything related to her condition and what expectations we should have. It will be hard for me to repeat everything he told us, so I will give you the highlights.

First, starting with her muscle condition and strength, he said she does indeed look very strong and healthy right now. Obviously, her low-muscle tone is causing problems, but she is doing a good job of working to overcome it through her therapies. They also did an ultrasound of her leg and arm muscles which showed that her muscles look very good and are not deteriorating at all yet. He said as long as her muscles stay strong then her health should continue to stay strong. If at some point the muscles begin to deteriorate then that is when we would begin to see problems with the lungs and or possibly the heart (though heart problems are less common with Kinsley's type of CMD.) So, for now we are very thankful to hear that her muscles are strong and that we shouldn't have to worry about that at this point. He also explained that with dystroglycanopathies (a very long term for the types of CMD of which MEB and Walker-Warburg are a part) you never know for sure what will happen with the muscles in the future. Every child is different and you don't necessarily see bad deterioration of the muscles ever, although with some you do. We just won't know until it begins to happen, but the good thing is that for now it's not happening and we will continue to pray that it never will (Also, this difference in how much the muscles are effected is what causes the wide range in life expectancy with MEB—early childhood up to 70 years old).

Next, we discussed the eye portion of the disease. He asked if we thought Kinsley saw better close up or far away and I told him I'd thought she was nearsighted for many months now. Extreme myopia (nearsightedness) is one result of this disease for most children. However, last summer when Kinsley had her eyes checked there was no sign of myopic eyes (apparently ophthalmologists can see this at the back of the eye when the eyes are dilated). We'd been told that since her eyes were healthy it seemed likely that she has cortical vision impairment which is when there is a problem seeing because of brain malfunction rather than eye problems. We discussed this possibility with Dr. Bonnemann and he said it was a very real possibility, but he also wanted us to be sure and have her eyes checked again for myopia. Cataracts and glaucoma are also sometimes seen with MEB, but he said it was very unlikely for Kinsley to develop them from MEB at this point. He said we would have already seen them if they were going to happen, so there is another praise.

Ok, so this will have to end Part I of the post and you can find out the rest of our visit with Dr. Bonnemann soon. Please come back to read it because there is some good information to come! 

The Past Month

So, I suppose it's time to update everyone on how things have been progressing with Kinsley for the past month. Things have been busy and somewhat up and down progress wise. Let me start with the seizures.

Kinsley, unfortunately, is still having her spasms. We've spent the past month fighting with them trying to find the right dosage to eliminate them completely. Sadly, we still haven't found it, but we're still prayerful and hopeful that it will come soon. After we began her meds we were very hopeful because immediately we saw a decrease in the spasms and they were less intense as well. After about one week on the lowest dosage they stopped altogether for nine days. We were (incorrectly) feeling great about them being gone. After the nine days they came back and have been continuing on and off for the last several weeks as we have been gradually increasing her dosage. At this point she is on the second to highest dosage and has been for six days. She had spasms the first day on it, but not the next two. Then she had a fairly intense cluster and now we haven't seen any again for the past 48 hours, so maybe this dosage will work. We'll continue to wait until we see more, but at that point we will increase to the highest dosage. I've been told you need to give the highest dosage two weeks time to stop everything altogether before trying anything else. So, at this point, we're still playing the waiting game. PLEASE, pray for these spasms to stop and for us to find the correct dosage soon. Infantile spasms do NOTHING to help a child and can cause serious regressions and eventual mental retardation. The longer she has them the more it worries me. As she already has so much other horribleness fighting against her development I really want to cut this problem out!

That being said, we must give praise to God that so far we really have not seen regressions in Kinsley since the spasms began. Her therapists say the same thing. The main things we've noticed is she does have some increased weakness in her trunk (like she used to have, but had gotten past). She became more wobbly while sitting and in supported standing again. Additionally her neck control is a bit weaker. However, it never reverted all the way back to not working and already in the past week or so I've seen both her neck and stomach muscles increase in strength again. Her therapists do not call these regressions as they are not problems in forgetting how to do those things, but rather as a result of muscle weakness. One therapist suggested that her medication may actually be contributing to the problem rather than the spasms and I have read that it can cause low-tone, so it seems likely that she has had these problems due to the meds. But, like I said, she's already improving in those areas again, so we are very thankful for that. Other than those things, Kinsley has not lost any of her skills. She is still (slowly) learning more and more and is still our happy, giggly little girl.

I am pleased to tell you that (so far) Kinsley's Botox injections in her eyes were a success! She has achieved good alignment of her eyes and things look great for now. We are still patching her left eye two hours a day, five days a week. We will continue this until her next check up in April. At that point it should be apparent whether or not her alignment will be permanent or just temporary. Either way, we are enjoying her improved vision for now!

Eyes before Botox

Cutie after Botox

After Botox

In terms of progress, I'm proud to say Kinsley has mastered drinking from her sippy cups all on her own. She can hold her cups (with handles or without), bring them to her mouth and drink as much as she wants. This is something I worked on with her on my own. She began working on it at the beginning of December and at the point we were working on holding her cup with handles in two hands while lying down or mostly reclined. Slowly we worked to doing it while sitting on the couch or in my lap. Then while in her high chair. Once she mastered each of those we moved to using a cup with no handles too. I'm proud to say by the middle of February she had it all down pat! She's a hard little worker. We've also been working on self-feeding finger foods. Sometime around her birthday she began to take large pieces of bread from me on occasion and move them to her mouth (actually sometimes kinda throw it at her mouth). Sometimes they made it in and she would eat it, other times it may fall down. At this point she gets the food to her mouth 95% of the time and if she's struggling to get it in she now (most of the time) will continue to work at it (whereas before she would just let it fall and not care). Additionally, she has become MUCH better at picking it up from her tray and eating it all on her own (before I usually had to hold it up in front of her). Right now she can only feed herself soft finger foods that are about quarter sized or larger (bread, cheese, crackers, etc). Puffs and smaller, harder foods are still difficult for her to grasp and they end up just moving all around the tray or if picked up being too hard for her to get into her mouth. But we'll keep working on it! She cannot use a spoon yet, but we've been working on that too. That's a work in progress which I think will take quite a bit of time, but she will sometimes take the spoon from me and put it in her mouth, so progress has begun.

Sippy without handles!

Sippy with handles!

These are all OT skills and I feel she's made the most progress in this area of late. In the last few weeks her OT sessions have changed a lot. She's still working on arm strength there, but with harder tasks as her arms have gained so much strength in the past couple of months! But where we used to work on reaching (away from her body, up high, with one hand, with two hands, etc.) we have moved on because she's achieved those skills very well! She is now working on putting things in and pulling things out, pulling off, pulling apart, and other such tasks which are much more age appropriate, so that is all very exciting. Not to mention, she has by no means mastered those skills yet, but she has taken to them very well and is making great progress already!

In PT we've not made much noticeable progress, but she is definitely improving. Her arms and legs are both getting stronger and stronger which is very important. As I mentioned before about the increased weakness in her trunk, that's made it harder to make progress in standing. She needs a very strong trunk in order to stand without support because right now she's too unbalanced. So please pray for that to continue to improve and quickly. She is slowly making crawling progress too. We've begun to work on belly crawling with assistance and so far she's not a huge fan and it's hard work for her, but she is crawling across the mat (with assisstance like I said), but that is more than we were doing before and I'm excited to keep working on it and see where it takes us.

Working on hands and knees at therapy

Stronger arms!

Speech therapy is an area I would like more and more prayers for please. Kinsley does great work at speech in making choices with her hands, turning to pay attention to sounds and sometimes her name, listening to her speech therapist talk to her, smiling and paying attention and other such things. However, we've made no progress towards her understanding words yet or towards talking at all. She is capable of making many sounds, but she usually only does it when she has nothing to play with (like while riding in the car, sitting on my lap, laying on her changing table, or in her bed, etc.) or if she's mad. Therefore, she doesn't make many sounds while at speech therapy. So that makes it hard to work on. Also, she does not imitate many sounds yet. The only things she will imitate are blowing raspberries, the short a sound and a strange hyperventilating sound she makes when she's excited (like the h sound, but with heavy breathing). And of course, she only imitates them when she wants to, so not always. Beyond that she will just watch you and smile while you say sounds or else ignore you. So basically, we're waiting on further development of her brain. No amount of therapy can force her to understand words—the brain just has to develop the ability. Also, imitation is a skill babies develop after time and her ST thinks Kinsley will still develop this skill, but it will just take time to come. So in the meantime we are supposed to keep making sounds to her, copy anything she says, sing songs, make animal sounds, etc., trying to build up her repertoire of sounds. I want to ask for many specific prayers that Kinsley's brain will develop more understanding of language. Thank you!

As for developmental therapy, Kinsley seems to be making more progress! She does not scream at her therapist for the whole hour anymore as she did when DT first began. :) She tolerates that therapy (and actually all of her therapies) so much better in the past month or so and we are so thankful for that. In DT, Kinsley practices her cognitive skills (as well as social, physical, speech, occupational and all) and we have been so encouraged by our DT's comments about Kinsley's abilities cognitively. She's by no means at age level, but our therapist has told us that Kinsley can do much more (and learn new things much quicker) than many other children she works with. She continues to be pleased by Kinsley's cause and effect skills, anticipation skills and recently of her understanding of objects being put in or pulled out of a container. Apparently it can take some (special needs) children a long time to understand that concept, but Kinsley picked up on it quite quickly, so for this we are also thankful.

Putting blocks in

I would like to reiterate how thankful we are for all of Kinsley's therapists. They are so sweet and loving towards her and they each are so positive about her abilities and believe she will continue to make great strides. We feel extremely blessed to have each of them working with her.

I don't know how much I can say that this life for Kinsley is hard. At times I struggle to be patient, waiting for the spasms to end or for Kinsley to understand her first word. BUT, despite how hard things seems to be at times, I cannot count how often we have things to be thankful for. Kinsley has a horrible genetic condition that causes physical and mental disabilities, but she grows, and learns new things all the time! She has infantile spasms and they haven't gone away, but she shows no regressions in her skills! We know not one other person or even anyone who knows someone else with the same condition as Kinsley, which can feel very lonely, but we have a wonderful support system of family, friends, and church family who all love our daughter and love us and keep us strong and prayed for through all of this. I also have a great friend whose daughter has a very different genetic condition, but which also requires so much attention, constant doctors' appointments, therapy and so much prayer. I hate that they are going through something so difficult, but it is SUCH a blessing to have someone who understands the heartaches and joys of a having a special needs baby. She is a constant help to me and I hope I am to her at times as well. (Speaking of this friend if you're interested in her daughter's story check out her blog here and keep baby Aubree on your prayer list too, please!) I say all of this to say, I hate this, but God is so GOOD! We are blessed beyond measure, even in the midst of this hardship. Romans 12:12: "Rejoice in hope, be patient in tribulation, be constant in prayer." This is my new verse to focus on for now. It very simply states what I need to be doing right now. Please join me in that constant prayer!

Admitted to ACH and Confirmed Genetic Condition

As many of you may be aware, Kinsley was very recently admitted to Arkansas Children's Hospital for some testing. This came about in regards to the seizure-like activity I mentioned in my last post. As I said before, we had set up an appointment with a new neurologist and were set to have an EEG to try and capture the seizures on the test. So, last Tuesday I was told to keep Kinsley awake all day and bring her in in the afternoon for the EEG. They wanted her ready to nap during the EEG because her "episodes" were happening after naps each time. (BTW, have any of you ever tried to keep a 13 month old awake all day when she's been to therapy that morning and ALWAYS takes a morning nap—not an easy feat!) I'm not sure how, but we made it to the EEG with Kinsley still awake (this included some rigorous dancing, unnecessary diaper changes, standing out on the porch while it rained, a full body massage and any other thing I could possibly think of to snap her out of her determination to fall asleep).

She then proceeded to scream through the 20 minutes it took for the technician to hook her up to all the leads. She's not a fan of someone holding her head down and rubbing all over it with marker, glue, gauze, leads and then more glue while also being tightly swaddled to keep her arms still and having me hold her down too. But honestly, would you be? So, combined with already being more than ready for a nap and then screaming for 20 minutes, the second the guy was done she passed out. We let her sleep for about 25 minutes and then woke her to see if she would begin her spasms. It took a few minutes (of cute grogginess where she looked a bit confused, but kept smiling at me) but she did begin to have her arm spasms. She's always awake and aware when it happens and you might miss it if you weren't paying attention. But what often happened with her seizures would be her arms jerking up for a split second and her eyes would look upward at the same time. Other times it would be her head falling forward for a second before she would pull it back up. It would only happen for a split second, but it happened in clusters where it would repeat every five seconds or so for 5-20 minutes. So anyway, I was glad they were able to capture it then, but despite me trying to worm it out of him, the technician said he wasn't allowed to tell me anything.

Crazy hair after the EEG

The next day I got a call from the neurologist and he was recommending Kinsley be admitted for further testing as soon as possible. He did say it wasn't an emergency, but that we should go that day if we could. He also explained that it looked like Kinsley was having infantile spasms, which is a type of seizure which happens between 0-2 years old. As things turned out we made the trek to Little Rock the next morning and Kinsley was admitted that afternoon. As soon as we made it to the room Kinsley had to go through the whole rigamarole of being hooked up for an overnight EEG. I wasn't sure why they wanted to have her do another EEG when they had already captured the seizures before, but this was going to be video recorded as well so they could have a visual for the doctor to review.

Needless to say she did not enjoy having to be all hooked up again, but honestly that was the worst of the trip for her. After that was over she was much happier and was a pretty content little girl the rest of the time we were there. She played with her toys, slept well, ate well and was an all around trooper. At midnight the first night we were there she woke up and began having one of her spells. We quickly called in the nurses so they could watch, the video recorded the whole thing and the EEG captured the brain waves. When it was over she just rolled over and went right back to sleep. (I should mention that the spasms never seem to be hurting her or really bother her which I am thankful for).

So the next morning Kinsley got to get out of her leads, we met with the neurologist on the floor for that week who confirmed that they were indeed infantile spasms, discussed all our questions and basically got the ball rolling for how we were going to treat them. Kinsley began her medication that day. We were told this was one of two frontline medications used to treat infantile spasms and the best one to use for Kinsley based on her underlying neurological problems. The medication supposedly would take a few days to start to work or if not we would need to try increasing the dosage. At this point it seems to have slowed down how often they happen and lessened the intensity of the spasms, both of which we are happy about, but it remains to be seen if they will stop altogether or not at this dosage level.

Happy girl after the EEG leads were attached at ACH

How she felt while they were attaching them. :(

We spent one more night at ACH, mostly so they could make sure she didn't have any adverse reactions to the medication before we went home. The doctors, staff and nurses were all very kind and helpful while we were there making a not so happy event somewhat bearable. We left Saturday morning feeling hopeful that we were getting a good start to helping Kinsley overcome these seizures. We also had a few friends come by to visit, a good friend sent us down with a care package of goodies, Kinsley received some gifts and so many friends and family called, texted, messaged and most of all prayed for us all while we were there. We are so thankful for the wonderful support system we have had throughout this entire process. Thank you so much to all those who have helped in one way or another! We could not make it through this without the help and prayers of all of you. Again, thank you, thank you, thank you.

Riding around ACH during our second day

Eating a cookie from our care package

Additionally, this week we received Kinsley's genetic testing results back. It has been confirmed that she has Muscle Eye Brain disease (MEB). I discussed this condition and Walker Warburg Syndrome in my first post. They are both forms of congenital muscular dystrophy. Of the two syndromes, MEB is the milder form, for which we are very thankful. Also, based on her testing and mutations Kinsley has, the genetic counselor we talked with said that Kinsley has a milder form of MEB. Another praise! Of course we want this to be as mild as possible. However, I do feel it's important to point out that we don't really know what "milder" means. It seems likely that it means Kinsley will progress further than many other children with this syndrome (as we have seen so far), but it is still something she will deal with for the rest of her life. She will very likely have intellectual disabilities to deal with along with her motor delays, as we have already seen. However, we are unaware what all that will entail and it is our continued fervent prayer that God will give Kinsley as much development as she can possibly gain. There is a shortened life expectancy with this disease. However, I've read that in milder cases of MEB some people survive into their seventh decade. This gives me great hope for Kinsley. Once again, we will not set limits on her. We will give her every chance she has at the best possible life she can have. With your prayers I know Kinsley can show us God's amazing work.

One further prayer I have begun to pray is for a cure for this to happen one day in Kinsley's future. That may not happen, but the medical field is constantly researching and improving. Adult stem cell research has made tremendous gains in the past couple of decades. One day there will be a cure. Please pray it will happen in Kinsley's lifetime.

In other news, Kinsley has become a straw-sucking expert. It took her all of about two seconds to figure it out when I first offered it to her (although she wasn't expecting a drink to come through it and promptly spit it all out). The next day didn't work out as well, but on day three she had it down pat. :) I know this is small, but I wish to celebrate each accomplishment Kinsley makes.

Thanks for continued prayers! Kinsley's Botox injections for her eye alignment are next week. Please keep her in your prayers for this to be a successful endeavor. Thanks again! We feel so blessed by the number of you who have embraced Kinsley's story and continue to encourage us.

I'll leave you with a Psalm our new minister preached on a few weeks ago. It definitely hit home with me as I struggle with understanding why this is happening. It shows David's begging for answers and then his acknowledgement that God is there and is answering his prayer.

    How long, O LORD? Will you forget me forever?
        How long will you hide your face from me?
    How long must I take counsel in my soul
        and have sorrow in my heart all the day?
    How long shall my enemy be exalted over me?
    Consider and answer me, O LORD my God;
        light up my eyes, lest I sleep the sleep of death,
    lest my enemy say, “I have prevailed over him,”
        lest my foes rejoice because I am shaken.
    But I have trusted in your steadfast love;
        my heart shall rejoice in your salvation.
    I will sing to the LORD,
        because he has dealt bountifully with me.
                                                  (Psalm 13 ESV)

Progress in Therapy and Medical Concerns

I am aware that I am slow at posting and it is my goal to figure out a schedule or routine of when I have time to type, so I can keep everyone updated on Kinsley. Sorry for being slow, things are just BUSY all the time it seems.

So, what’s been keeping us so busy? Well, lets start with therapy. Kinsley has had some wonderful last few weeks at therapy. She’s been working hard and hardly complaining, which is wonderful! Thanks so much for all who have prayed for this specifically. She’s been working on some new skills and gaining strength in old skills. In PT Kinsley has begun to practice supported standing. We do this by leaning her against a wall and letting her try to balance and also by standing her against the couch or ottoman with a toy to play with and again trying to balance. She’s making some headway there, so yea! Additionally, Kinsley now has a “stander” at home that we use everyday. It basically keeps her in a standing position without her having to work to balance. This way she bears the weight through her legs, but doesn’t have to worry about working other muscles too. Apparently, this will be building her hip sockets too, which do not form in a baby until they begin standing and bearing weight through their legs. Another praise is that this skill is something she seems to enjoy working on and does not cause tears of any kind! Hallelujah! Kinsley also seems to want to take steps while standing which has a positive and negative side to it. It’s wonderful that she is initiating the steps on her own because it’s a wonderful sign of her walking at some point. The down side is we don’t want her to walk before she crawls. Crawling is going to be a very important step in her development. She needs to gain the muscle strength in her arms and build the neuro-pathways that crawling builds before she walks (because if she walks first she’ll have no reason to crawl!)

Supported standing using the wall.

In the stander.

So thankful she enjoys it!

Thankfully we have been making (slow) progress in the crawling department. I will admit there have been times when I thought there would be no way she would ever crawl, but I am building faith that she will based on her recent progress. Kinsley is now allowing her therapists (PT, OT and DT) and myself to put her body into hands in knees and will stay in that position for 5-15 seconds or so (usually with support from us holding her trunk). This is huge for her because as of three weeks ago she would just throw a fit and break down and often not be able to finish a therapy session after we tried it because she hated it so much. Bearing weight through her arms and/or having someone manipulate her arms is maybe the one thing she hates most in the world. Praise God for growing strength that allows Kinsley to tolerate bearing weight through her arms more! She’s still not a major fan, but it’s getting soooo much better. Additionally, she is becoming much better at getting into transition positions in sitting. She can get her body into a pre-crawling position (hands on the ground and legs turned to get onto knees easily) and get back out of it without much work at all. Yea! These are all great steps in the right direction. But, this can also give you a good idea on why progress can be slow. She has to be taught each step in the process and practice them over and over until they are familiar. Please continue to pray for progress and for Kinsley’s arm strength to continue to grow.

We started speech therapy yesterday! I’m glad to finally have that ball rolling. Several people have asked what we will work on in speech, so I’ll go over what I know so far. Yesterday we worked on having her make a choice between two objects in order to express a preference simply by reaching for the one she wanted. She did that very well which I would expect. The therapist also allowed her to play with a toy and then would remove it and get Kinsley to hit a button which said, “More, please,” when pressed before she would return the toy. She’s not supposed to understand what it means yet, but she definitely seemed to press the button with some intent a few times, so that’s good. She also worked on putting blocks into a bucket and pulling beads out while emphasizing the words “in” and “out” each time. The last thing we worked on was having Kinsley respond to her name being called while she was distracted with a toy. This is something I can never tell if she understands or not because she reacts to it sometimes, but not always. It went the same way at therapy with her responding 2 out of 4 times. So, we’ll see and we’ll keep working on it. Over all I thought the session went well especially considering she was working with someone new (which she doesn’t always respond well to). She never cried, fussed minimally (only while her hands were being manipulated which I mentioned she hates) and tried each activity, so I was proud of her! Another thing we will work on, but didn’t start yet will be signing words like “eat”, “more”, “drink”, “all done,” etc. Please pray for this therapy to be a successful endeavor and for Kinsley’s brain to open itself up to understanding language.

  

In medical news, we have some updates too. One thing I failed to mention in my earlier posts is about Kinsley’s vision. Kinsley has left esotropia (her left eye turns in slightly). This prevents her from having depth perception and at times makes her eyes look crossed. This was actually the very first problem we ever noticed with Kinsley at around 4-5 months old. At the time we knew it was a concern, but had no way of realizing it was in any way connected to any neurological issues. So, she has been seen by a pediatric ophthalmologist for a long time now. We’ve also been patching her right eye two hours a day five days a week in order to strengthen the left eye. Additionally, we’ve been aware for a long time that we would need to do more to help straighten her eye alignment. There are a couple of different routes our ophthalmologist recommended and we are beginning with the first, less invasive one in a few weeks. She will receive Botox injections in both of her eyes in an attempt to “reset the system” or realign her vision. The hope is that the injections will cause both eyes to reset and work together (whereas right now they work one at a time independently of one another). There is about a 30-40% chance of this working permanently. That doesn’t seem great, but the only other option is eye muscle surgery which is, obviously, more invasive and is not guaranteed to work either. Our doctor has seen success with the injections (though not always) and believes it’s a good first step and will not harm her if it does not work. So a few things to pray for here: Firstly, that the injections will work! Secondly, Kinsley will have to be sedated during the procedure, which is a somewhat scary experience for her parents, so pray that it goes smoothly. Thirdly, there is a possible side affect of temporary droopy eyelids for a week or so after. This would be no fun for her or us as she would not be able to see out of the eyes that were droopy! So please pray that won’t occur.

Playing while patched.

Also, unfortunately, something we were hoping to avoid forever seems to have begun. We are not sure, but for the past couple of weeks, almost daily, Kinsley seems to be having some seizure like activity. They are not the big, scary, grand mal seizures (thankfully), but they involve loss of motor control for the time it occurs. She is somewhat aware of her surroundings during them, but has some regular twitching that occurs and it lasts for about 10-20 minutes. It always happens after a nap and now she usually falls asleep again as it’s ending. Then when she wakes up everything is back to normal.  It is somewhat scary and stressful that this is occurring and I hate it. But, thankfully, she does not seem to be hurting, scared or really bothered by it at all. Also, right now they do not seem like they are affecting her abilities in any way, which we are very thankful for as well. We’ve scheduled an appointment with a new neurologist in Little Rock in a couple of weeks and she will be having another EEG done to check for the seizure activity. It’s possible they are not seizures, but this seems the most likely to us. Please pray about this as well. We really want them to stop. If there’s a medication we need to use, we will do that, but of course I’m nervous about possible side effects of that as well. But, whatever we need to do to help her is what we want to do. So please pray for the best in regards to stopping the seizures, that they will not cause regressions and also that this new neurologist will be much more helpful than the last one.

As I look back over all that I’ve written this time it feels like a lot to deal with. And it is a lot to deal with, but thankfully it doesn’t usually feel that way. Most days we are able to be happy and enjoy life, enjoy Kinsley without feeling the pressure of all that is going on (for example she recently has begun to enjoy laughing just because I’m laughing. Neither of us has any reason to laugh except that it’s fun. She looks so cute too. She’ll scrunch up her little nose and laugh and then pause expectantly waiting for me to do it too. Back and forth it goes until I’m too tired to keep it up.) I’m so thankful for that happiness and I know it is simply the peace that comes from God that provides it. We could not make it through this without him. Paul said it best in Philippians 4:11-13:

“…for I have learned to be content whatever the circumstances. I know what it is to be in need, and I know what it is to have plenty. I have learned the secret of being content in any and every situation, whether well fed or hungry, whether living in plenty or in want. I can do all this through him who gives me strength.”

We know that it is God who is with us and guiding us and keeping us through this life journey. Just like he is there in the good times, he is there in the hard times and it is through him that we get our strength to endure. Thank you, Lord for your loving care!

Kinsley on her 13 month birthday (that dress was mine as a baby!)