Happy 2nd Birthday, Sweet Kinsley Girl!

Kinsley Abigail, Born December 20, 2011 at 12:38 pm

How can it have been two years since this precious girl came into this world? In some ways time flies and it feels like just yesterday that I first held her in my arms. In other ways this journey through understanding her diagnosis and getting TONS of therapy and watching each milestone and inchstone (as many special needs parents call the tiny steps of progress in between each milestone) slowly come has felt like a lifetime. My life is TOTALLY changed because of this sweet girl, but I wouldn't have it any other way. Kinsley is the brightest little light shining for us when we go through the hard times. It's wonderful to think that through all the hardship that comes with Kinsley having MEB, that Kinsley herself is that one that makes it all worth it and all ok. She is the hardest working, strongest willed, little miss independent, beautiful girl who we are SO proud of. So on this second anniversary of her birth I want to just take a moment to celebrate all that she has accomplished in her little, beautiful life this past year.

December 20, 2012

At 1 year old Kinsley could:

• Hold her head up in any position
• Sit unassissted
• Roll from belly to back
• Roll from back to belly
• Bear weight through her legs
• Grasp objects
• Bring objects to her mouth
• Bang two objects together
• Track objects with her eyes
• Smile socially
• Laugh at funny sounds
• Recognize familiar songs
• Understand cause and effect toys
• Respond to her name (inconsistently)
• Make vowel sounds and blow raspberries

December 20, 2013

At 2 years old Kinsley can:

• Do all of the above
• Achieve sitting from laying down on her belly or on her side
• Crawl
• Stand with support from a wall, at a table, couch or standing toy
• Stand without support for over a minute (inconsistently)
• Stand up from a bench unassisted and remain standing for 30 seconds (she did this for the very first time TODAY at therapy and she did it TWICE!)
• Walk 3-5 feet with support
• Hold and drink from a sippy cup
• Drink from a straw
• Self-feed with hands
• Self-feed with a spoon (inconsistently)
• Clap her hands
• Remove rings from a ring stacker
• Put rings back on a ring stacker (inconsistently)
• Put objects into a container
• Remove objects from a container
• Understand more complex cause and effect toys
• Babble many sounds including any combination of mamama, dadada, bababa, papapa, or lalala
• Reach for me when I hold my arms out
• Understand words or phrases like, "Give kisses," "Look at Mama," "Up," "No," or "Where's Daddy?" and (inconsistently) follow the command if one is given
• Sign the word "Eat" (a new skill she mastered over Thanksgiving break and one that she uses VERY consistently!)
• Use a switch (communication device) to ask for an object
• Maintain eye contact (when she wants to)
• Play Peek-a-boo
• Recognize (very) familiar people and smile at them

I am sure there are more accomplishments I am forgetting. I also realize for a typical 2 year old this is not the list of accomplishments you would be looking for. However, this list is not to elicit any pity or saddness from any of you wonderful readers. This list is something we are SO proud of. This little girl works SO hard. Not many 1 or 2 year olds are constantly asked to work out and do tasks they don't want to do. Kinsley is and although she's not afraid to complain about it (she definitely isn't delayed in being able to throw a fit like any 2 year old might), she does the work anyway and has made SO MUCH progress. And most of that list was accomplished in the last six months. She has made such steady progress since she began to get herself into sitting and we couldn't feel more blessed. We are well aware that things could be so much worse for our sweet Kinsley and we just want to PRAISE GOD that she can do all that she can and that the progress is just continuing.

Looking back on how much Kinsley has learned in the last year I am reminded of the verse I mentioned in my first blog post about Kinsley written a year ago:

“‘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.’” Jeremiah 29:11

One year ago when I first told you all about Kinsley and what her life may be like we did not know what the future held and for many things we still don't. But this year of progress and accomplishment has shown us that God is with us! Kinsley's future is blessed because of Him. He has given her SO many abilities already that we were never sure she would accomplish and I fully believe that He will continue to bless her in the years to come. However, I feel the need to add that I know that even if or when the accomplishments stop, God STILL has a plan for her and I know it will be a plan to prosper her. My prayer is that the coming year and years will be filled with continued blessings for our Kinsley girl, but even when the hard times come that we will continue to lean fully on God and trust His guidance in everything.

So, happy birthday, Sweet Kinsley Girl. You are truly an inspiration to your mama. I love you, sweet girl!

PROGRESS with a capital P-R-O-G-R-E-S-S

Well, the past 2 and a half months have brought some wonderful things to Kinsley's life (and therefore ours). Kinsley has made some wonderful strides in her physical abilities and I am so excited about them! In my last post I told how she had learned to push herself into sitting and had done it a couple of times. I am proud to say she has continued to do so and it is no big deal for her at all anymore. It seems that this process being done over and over by her has been a huge help for her. It has strengthened her arms, but also her core and she now is able to get herself up on her hands and knees and can CRAWL forward! Ok, so she only goes about a foot or two before laying down, but it is still AMAZING progress for her. There were definitely times where I wondered if she would get this, but we see it happening! It's wonderful to see her so motivated to move. She does still fatigue easily and this is partly why she doesn't go far, but also it's still an uncoordinated move for her and she's still figuring out the whole reciprocal process of moving one arm and the opposite leg at the same time. Usually at this point she moves one limb at a time, but it's improving and she does very, very well with assisted crawling now (where we hold her legs and move them as she moves her arms forward). Anyway, we're so thankful to the Lord for this ability that she is developing. Her PT told me she believes by Christmas we can have her crawling all over and getting into everything! What a wonderful Christmas gift that will be. I have been waiting so long to see this sweet girl with some mobility and it is SUCH a blessing that it is (nearly) here.

In other progress she has also made great gains in her standing abilities. She has stood unassisted for 10 seconds! That is her max right now, but we've had several other 5-9 second bouts as well. She received some new braces to wear while she is working on standing. They help keep her feet stable as she seems to have weak ankles and she was standing on both the inside and outsides of her feet at different times (very wobbly feet). So, we got some AFOs and the first time she tried them was the first time she stood unassisted for any time at all. They are a great help to her and it's so exciting to watch her make this progress! She's also done some very long 30 second stretches with support only on her feet (she supports her whole body except for her feet which we hold down for her - this is the hardest assisted standing there is). It's awesome to see her doing so well! She is still very weak in her core and this makes it difficult for her to balance, but she is doing so much better than before. PTL!

Kinsley has also begun to use her spoon to help feed herself. She is so cute doing it too. I always make a big deal when she does the whole process of picking up her spoon, putting it in her mouth, getting the food off and then returning it to the bowl. She loves that and acts so pleased with herself. It's wonderful in two ways. First that she's making progress with self feeding and second that she is enjoying and understanding praise from others. She does not scoop the food herself yet and her grip can be iffy (sometimes the spoon gets turned over), but still this is big stuff for her and she keeps getting better at it. :)

That being said I still dearly wish for all of your prayers for our sweet girl and for our whole family. Kinsley is doing so well in her progress, but she will forever be behind. I know this, but I struggle to accept it. It's very hard as a mama to watch your child struggle and be "different" from other children her age. One thing that is starting to show itself more and more are some symptoms of autism. We were told this happens with some children with MEB (because of the brain issues). Kinsley is VERY delayed in receptive language skills and her social skills as well. It is difficult to understand. She can sometimes be very involved and engaged with me or Luke or her grandparents, etc, but very often she seems to be in her own world as well. I think for me this is the hardest part of this whole disease. I just want her to have a happy life, but I want that happy life to include us bringing her that happiness. I just want the very best for her, so I feel strongly about getting her all the therapy and help she can receive. Her developmental therapist and I are working on new ideas and skills to help her with these areas. Her speech therapist is too. And it all helps, for which I am thankful, but it is also very hard. It feels like a constant battle to get her attention at times, but at other times she does great. I try to focus on the positive, but I'd love prayers for this to get easier or at least for there to be noticeable progress in these areas. We're also trying to decide what further therapies (like ABA) may be appropriate for Kinsley in the near future, so please pray for us to have wisdom to make the right choices for our sweet girl. For we know that "the prayer of a righteous man is powerful and effective" (James 5:16b).

I think this is all I will post for now, but I'll leave you with some fall pictures of our Kinsley girl (and her crawling progress!)

Problemettes and Progress

The past month and a half have been as busy as ever! Kinsley has had some minor medical issues pop up which I will tell you about (hence the "problemettes" in the title), but she has also shown us some fun steps of progress which I am excited to share with you.

Problemette #1: Kinsley has a peanut allergy. :( Around the middle of June I made Kinsley a peanut butter sandwich for dinner one evening. She'd tried peanut butter once before, but didn't really like it, so I didn't give her anymore for a few months. But people say you should keep trying foods as it takes up to 10 times for a child to decide whether or not they really like a food. So we tried the food again and she seemed to like it this time since she ate the whole sandwich. Yea! An easy food to give her to get some protein and for on the go times. But, alas it was not to be. Within two hours of eating it Kinsley began to cough weakly and she got red around her mouth. Then the redness spread and continued to spread until she was covered in hives all over her body. Poor baby. She did not enjoy that. I gave her a dose of Benadryl and that quickly seemed to help the problem. The coughing stopped soon after that. We took her to the ER to be on the safe side. They said it was good to bring her in, but that thankfully she was doing fine. They prescribed a steroid treatment for a few days to be sure there were no re-occurrences from the food still being in her system. Thankfully she seemed totally fine the next day with no more hives and nothing else popping up. We followed up with our pediatrician and we've set up an appointment with an allergist to do a nut panel and be sure she's not allergic to any other nuts. So, like I said, this is a problem, but honestly, of all the things we are dealing with, this is a minor one.

Problemette #2: Kinsley has to have her liquids thickened, at least for the time being. One thing Kinsley has always been good at is eating and drinking. She's never been a picky eater and likes most everything she tries. However, sometime in May she began screaming during meals and it continued for many days. Not knowing what was wrong we set up several appointments to try and figure it out. One appointment was to have a swallow study done just to see if there was something going wrong while she was swallowing. Another appointment was with our pediatrician just to be sure she didn't have strep throat or something else causing pain while swallowing. As it turned out neither of those things was it. She had an ear infection and it was just causing her to be irritable especially while chewing and swallowing (as it moved her ear). However, we decided to keep the swallow study appointment just to be on the safe side. We were not expecting to see anything on the study, but that was not to be. For those who don't know, a swallow study involves the patient swallowing different foods and liquids of different thicknesses and watching the swallows on an x-ray like machine. Kinsley did great swallowing all the foods and liquids up until we got to the straight liquids. Unfortunately at that point she silently aspirated twice. This means the liquid went down the "wrong pipe" as we usually like to describe it, but without her coughing or choking or anything. Obviously, this can be a problem as it can lead to pneumonia eventually if left untreated.

The thinking is that she has some low-tone in her mouth which was causing her to not control a large amount of liquid in her mouth at one time without aspirating. So, for now we are adding a thickener (at nectar thickness for those who are wondering) to all her liquids. She'd swallowed that thickness during the study with no issues. We also added a second speech therapy session each week after the study was done. We're continuing all our speech goals as before, but we are also now working on some oral motor development by doing oral motor exercises. The hope is that these will build up her mouth strength and that within a few months she may not need anymore thickeners. We shall see. Once again, this is a problem (and believe me I am TIRED of problems popping up), but once again, it's not too big a deal. She continues her normal diet and all that we have to do differently is squeeze some packets into her drinks which I am more than willing to do to keep her healthy. :)

Kinsley's had several other appointments since my last post too including three visits to her pediatrician (one sick, one well and one mama thought maybe she was sick, but thankfully not),  developmental pediatrician, audiologist (who gave us a good hearing report), neurologist (with another pretty good EEG like the last one), opthamologist and of course all of her therapy sessions (now at 8 sessions a week!). We've received good/normal reports from each of these for which I am very thankful. Of course it has kept us all very busy!

Progress wise Kinsley has added a couple of exciting skills to her repertoire of late. First of all, about a month ago she started babbling "mamamama"! I love to hear her say it, though of course she does not say it with meaning yet, but it gives me high hopes that some day she will. But, even better is that in the last week she has even begun to imitate it! She doesn't copy me every time, but she has done more times than I can remember now, so she definitely seems to have that imitation down! This makes me one happy mama!

Secondly, Kinsley has FINALLY learned how to push herself from her tummy into sitting all on her own! We've worked on this for a long time, so it's nice to see her finally make it there! Her arms have been so weak for so long that I wondered if she would ever be able to do this, but she's done it twice in the last week, so we are so excited for this step of progress! This shows a great amount of strength has been gained in her arms since she began therapy for which we are very thankful. Hopefully this will lead to more exciting things (maybe crawling next?! Fingers crossed!).

I must admit that it is sometimes difficult for me to be patient and not worry about Kinsley's abilities. I sometimes fear she will never "make it" to things like walking or communicating. This is a hard road to walk. But I am only admitting this in hopes that I can ask for your continued prayers and encouragement. I know Kinsley can do these things because I know God is in control. I just have to be aware that it may take a LOOOOONG time for some of these things to come, but that does not mean I must give up. Take, for example, the fact that she learned to sit unassisted at nine months, but it took until she was 19 months to actually get herself into sitting. Ten months is a long time, at least for normal development. But that's what I must remember. She's not going through a "normal" development. This is at her own pace and I can not control that. All I can do is persevere and keep pushing her. This means fighting the fears, doubts, saddness, physical, mental and emotional fatigue and any other temptation to wallow in self-pity sent by Satan. I will fight to help my sweet daughter do all and be all that she can be. Praise the Lord that he is here to help because I know I could not do this without Him.

"Be strong and courageous. Do not fear or be in dread of them, for it is the Lord your God who goes with you. He will not leave you or forsake you.” Deuteronomy 31:6

I would like to also tell you about a blessing I have received. I have officially been offered a posiion as an adjunct university supervisor to student teachers by Harding University (for those who may be confused, Harding has a satellite campus in Northwest Arkansas for whom I will be working). I will be supervising four student teachers this fall meaning I will observe each one four times and will be guiding them towards becoming fully prepared to teach after this semester. I by no means think I am the best teacher ever, but I have hope that I can guide these soon to be professionals towards a successful start to their careers. I am nervous, but very excited about this blessed opportunity. I am most excited that this work will only require me to be gone one day a week from Kinsley so I can continue to keep her and her therapy and other appointments as my focus. Luke will be able to care for Kinsley on the one day I work as he always has one day off during the school week. Thank you, Lord for these blessings!

I will leave you with some pictures from our summer vacation which included a trip to Memphis to spend time with college friends and their kiddos, my parents house in Alabama and a week at the beach in Florida! Fun times! :)

At the Memphis Zoo

Levi and Kinsley at the Splash Pad in Memphis

Beach baby!

Grandaddy David and the beach baby :)

Family picture on the 4th of July

A very windy evening at Rosemary Beach!

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!