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!