What is Charcot-Marie-Tooth?

I was born with a disease. It is not contagious, but it is inherited. It slowly causes your body to become paralyzed, because your muscles die. Two of my favorite things, running and playing the piano, are very hard for me now. It sounds like a muscle condition, doesn't it? It's not. It's actually a nerve condition. The nerves stop working right, and they don't stimulate the muscles to work, so the muscles atrophy. It's pretty hard to take, because you can do everything, then suddenly you can't. I remember trying to show off my awesome dive to my son, and I couldn't jump on the diving board anymore. When things like that happen (which is often), I privately grieve a little.

This disease is called CMT. I inherited it from my dad, who inherited it from his mom, and then the trail goes cold. Dad and I were studied by researchers at the National Institutes of Health in Bethesda, MD when we lived in Virginia. We shared a hospital room and I had my 11th birthday there. It was the Christmas season, and NIH had a great children's program. I did crafts, watched plays, and they let me fly up and down the halls in a wheelchair. I had a great time, aside from the slicing, poking and prodding with sharp needles. We were lab rats.

Here's what NIH knows about CMT:
Charcot-Marie-Tooth, or CMT, is the most commonly inherited neurological disorder and is found world-wide in all races and ethnic groups. Discovered in 1886 by three physicians, Jean-Martin-Charcot, Pierre Marie, and Howard Henry Tooth, CMT affects an estimated 2.6 million people.

CMT patients slowly lose normal use of their feet/legs and hands/arms as nerves to the extremities degenerate and the muscles in the extremities become weakened because of the loss of stimulation by the affected nerves. Many patients also have some loss of sensory nerve function.

CMT is one of the 40 diseases covered by the MDA, but unlike muscular dystrophy, in which the defect is in the muscles, CMT is a disorder in which the defect is in the nerves that control the muscles.

CMT usually isn’t life-threatening and almost never affects brain function. It is not contagious, but it is hereditary and can be passed down from one generation to the next.

CMT
* ...is also known as peroneal muscular atrophy (PMA) and hereditary motor sensory neuropathy (HMSN).
* ...is slowly progressive, causing deterioration of peripheral nerves which control sensory information and muscle function of the foot/lower leg and hand/forearm.
* ...causes degeneration of peroneal muscles (located on the front of the leg below the knees).
* ...causes foot-drop walking gait, foot bone abnormalities, high arches and hammertoes, problems with balance, problems with hand function, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, scoliosis (curvature of the spine) and sometimes, breathing difficulties.
* ...does not affect life expectancy, but can, in rare instances, cause severe disability.
* ...has no cure, although physical therapy, occupational therapy and moderate physical activity are beneficial.
* ...is sometimes surgically treated.
* ...is usually inherited in an autosomal dominant pattern, which means if one parent has CMT there is a 50/50 chance of each child inheriting the disorder.
* ...may become worse if certain neurotoxic drugs are taken.
* ...can vary greatly in severity, even within the same family.
* ...can now be diagnosed by a blood test (NOT OUR TYPE) (CMT types: 1A, 1B, 1C, 1D, 1E, 1F, 1X, 2A, 2B, 2E, 2F, 2I, 2J, 2K, 4A, 4C, 4E, 4F, 4J, HNPP, CHN, and DSN).

Ahh, Summer!

Our 19 year old, Brent, got A’s at Brevard Community College this semester! I’m so proud of him, and grateful to his tutors, Laurie Erskin, in calculus and my dad, in chemistry. He still needs a job, but we haven’t found a place that is hiring. Brent is continuing violin. I wish someone would talk him into playing at our church, but so far, he is too shy.

Jacob’s Tuesday school classes ended with a drama program and art exhibition. The band performed a finale concert. Our homeschool group had a yearbook party. Suddenly, our Mondays, Tuesdays and Fridays were free!

We are still homeschooling math, trumpet, guitar, piano, math, reading and Bible, but there is a totally different feel than during the school year. There is no clock-watching and rushing out the door. We are finishing the last few chapters of Jacob’s math book so that when school starts in August, we can try algebra. Jacob reads daily from whatever book he chooses. He is working on a kids Bible program that is a lot of fun. He is participating in summer band, so practices his trumpet before a performance. They are performing for children’s groups at libraries and nursing homes. His band teacher is so amazing at engaging the audience, young or old, and makes it fun for the children in band by having a pool party at her house afterwards. I’m able to spend a lot of relaxed time with Jacob and piano, and his playing has improved dramatically. He has been working on his Guild Repertoire lesson book (which is all classics). I’m excited because he just finished learning (and memorizing) an entire sonatina that I played when I was his age. That’s so cool! His fingers are much quicker than mine. He’s also working on some simple jazz and blues, and a religious piece. He played at church recently. Jacob loves to play fast and loud, but he forced himself to slow down and play softly, which was a huge accomplishment and showed a new maturity. I was proud of him! He hasn’t been playing much guitar, because Conrad hasn’t given him any lessons lately. He moves forward quickly when Conrad teaches him.

The beginning of June, Brevard Community College started a variety of kids’ camps. Brent went to a few when he was in middle school, and they were wonderful. Jacob is finally old enough for some of the camps. Thank goodness my friend told me about them! He participated in a week-long Production Camp, probably the best camp he’s ever attended. The kids learned all about “green screens”, writing and filming a commercial, and creating and performing a talk show. They broke into several groups, and they were all funny and unique at the live showing.

This week, Jacob is at Camp Kulaqua. Our older four boys went every summer when they were younger, so ever since Jacob turned 8 and was old enough to go, I’ve been asking Conrad to agree to send him. He was afraid Jacob would be influenced by some trouble-maker and come back a changed child. Finally, this year, he thought we should send him. I’m so happy for Jacob! We’re able to look at photos online and see what they’re doing.

My usual summer activity is to clean out! I have outgrown books, toys and clothes. I’ve made a lot of progress, but there’s still plenty to do. I can’t even think of the stuff on the porch, in the garage or in the attic. I’m concentrating on the house. I’ve been working on Jacob’s room, a little at a time. I’ve been selling and giving away, and still have a huge pile of stuff to deal with.

I’m still teaching piano over the summer. I really love to teach in the summer, because everyone is so relaxed and has more energy for concentrating on piano.

Our church is having VBS this week. I led VBS for 3 years when my kids were little, so I really sympathize with our leader who has two little toddlers. Kudos to her! It’s a big job, but she’s handling it much better than I did. This year I’m doing my usual, taking my group of little ones from area to area. It’s not much, but I love being involved and being with the kids. Conrad is helping with the games. I’m sorry Jacob and the NINE other kids that I counted at camp from Titusville and Cocoa churches had to miss it, but Cocoa is having a Romans VBS next week that they can attend. It will fit right into the ancient history that we’ll be studying in the fall.

I worry about Conrad and his health. His diabetes is not good. He needs to really watch his diet, and that’s hard for him. I am so blessed to have such an interesting, fun and compassionate husband, that I dread anything happening to him. We’ve been together over 15 years, but he still makes my heart skip a beat when I look at him. I love just being with him, talking with him, holding his hand, cuddling with him. I’m glad he’s retiring soon. We have a big transition in our lives in October! We are excited and nervous.