Thursday, June 12, 2014

2nd Trip to the NIH

Well, we've made our second trip to the National Institute of Health for Kinsley to continue as one of their patients in the natural history study they are conducting on congenital muscular dystrophy. The trip was a few weeks ago and proved to be a good visit with a little bit of new information for us.

First off, I should explain that as a part of this study, Kinsley participates by being examined by the neuromuscular team, physical therapy and ophthalmology. They record her progress with the disease and will continue to do so as long as we want to continue to be a part of the study. The purpose of the study is to gather as much information about her disease and others like it in order to gain possible support/funding to (hopefully) bring about possible clinical trials which could lead to treatments and even a cure to these diseases. We are also extremely thankful to get to participate so the experts like Dr. Bonnemann, who we get to see, can give us as much insight into this rare disease as possible. Also, each appointment is free since it's a part of a research study, so we are very thankful to be a part of it and pray it will be beneficial and truly helpful some day. We only have to pay for the travel and with the generosity of everyone who helped with Kupcakes for Kinsley last year (and from others) we have plenty of money for a few more trips! Thank you again to all who helped with that!

Here's the low down on what we learned this trip. First, Kinsley is progressing VERY well. Compared to what could be happening and what, very sadly, is so often the case with MEB, Kinsley is making so much progress and very quickly. They were very impressed with her gross motor skills and how much she had gained in the last year. Dr. Bonnemann said he has no doubt that she will walk without assistance at some point. Her biggest problem getting there right now is due to balance issues. She is very unbalanced when trying to stand or walk independently. She can stand alone for anywhere from 3-60 seconds at a time, but the longer she does it the more she has to concentrate to remain steady and that wears her down until she falls. He said this is due to her small cerebellum (one of her brain abnormalities), but that with time she will be able to overcome it. Yea! We'll just keep practicing. In the mean time, Kinsley's physical therapist has provided us a walker which she is learning to use like a champ to help her walk without the assistance of a person. We're very excited about this! Here's a video of the first time she tried it out:

video

Ok, back to the NIH news. Other than their pleasure with her progress, we didn't learn much new info from Dr. Bonnemann. We were told to increase her vitamin D intake to help avoid possible osteoporosis which could happen in the future. We also asked about any updates on the possible gene therapy they told us about last year. They were still very hopeful about this, but funding is an issue, so PLEASE be praying more funding will be brought in so they can make progress in this. In order for it to be able to benefit Kinsley, a clinical trial would have to take place while she is still healthy. If she starts to have medical issues stemming from her disease then the gene therapy would not help those issues. So please pray for this. Also, if you find it on your heart to give money towards this please let me know and I can give you information on where best to send your money.*

When we visited with Dr. Zein, the ophthalmologist, we got the most interesting news. Kinsley no longer needs to wear her glasses. Just previous to going to the NIH our local ophthalmologist had suggested the same thing, so we were interested to hear about Dr. Zein would say. Turns out he was right (which we are glad to know). Last year when we went, Kinsley's vision was measured at about -1.25 in one eye and -2.0 in the other. This is somewhat nearsighted and glasses could benefit. However, as MEB goes, children tend to get progressively more and more near-sighted as time goes on. When adding that knowledge to the already near-sighted measure they were getting, glasses seemed like a good idea.

However, at this visit, Kinsley's eyes measured at a -0.65 in each eye. Dr. Zein said in normal circumstances a prescription would never be given out for this. He and our local doctor both said that there is a margin for error when measuring the eyes, so this likely explains why the numbers are better than last year. However, I'm also aware God could have easily helped them out if He wanted to. Either way we're just very thankful that instead of getting worse, as was expected, her eyes either remained the same or got better. We were also told a normal reading for MEB would be something like -4.0 or -5.0. So once again, thank you Lord for your provision in this area!

There is one possible concern with Kinsley's vision. Another concern about the eyes with MEB is possible retinal degeneration as time goes on. This would eventually lead to blindness and there is no cure for it right now. After looking at K's retinas, Dr. Zein said he saw something which could be a sign of retinal degeneration, but could also be nothing. The only way to know for sure is through a more invasive test called an ERG. This is a test she will have to be sedated for, so it will happen in Little Rock in August. Please be in prayer about this for us. Right now we are choosing not to worry because we have no real reason to be worried. We're just giving it to God and trusting that no matter the result of the test, He will provide just as he has all along this journey.

Other than that, we had a nice visit to DC again and got to enjoy some sightseeing, walking in great weather and Kinsley's first carousel ride which she thoroughly enjoyed. Here are a few pictures:


Flying to DC (she was so good!)
Being examined by Dr. Bonnemann (she was not as good!) ;)
Riding the carousel on the National Mall
Sightseeing after learning the glasses were no longer needed!

In other news I wanted to let you know that the behavioral therapist we hired has been so helpful and Kinsley's therapy sessions have been SO MUCH better. She tolerates so much better now and is continuing to make progress. We're so thankful. Thanks to all for prayed about that for us!

Also, here's a newer video of her using the walker at home. Of course she's wearing the same outfit! Enjoy!

video


*One very easy way to help fund the research is by using amazonSmile.com when shopping on amazon. If you sign in to amazonSmile then you can choose a charity or organization to receive a portion of the money you spend on amazon. Very simple. Just choose CureCMD and you will be helping to fund the research every time you shop on amazon! And who doesn't shop on amazon?

4 comments:

  1. So happy to hear of the progress she is making. She is a doll! Continuing to pray for y'all.

    ReplyDelete
    Replies
    1. Thank you, Amber! I enjoy reading all about Lillian's exploits as well!

      Delete
  2. This makes my heart smile! So happy to hear of Kinsley's progress. Your faith as you continue this journey is so inspirational. May God continue to guide you and to provide what you all need. Praising Him who is over all and is hearing the prayers for your precious daughter!

    ReplyDelete
    Replies
    1. Thank you so much, Donna. Yes, all the praise needs to go to our Father for sure. He is in control of her life and has blessed her in more ways than I can count.

      Delete