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.