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!