The Beast of CMT

Charcot-Marie-Tooth syndrome. Sounds kind of like a fish or something doesn't it? Something with teeth...

A few years ago I was officially diagnosed with it, even though I knew for years that I had it. I really got officially diagnosed so I could have a baseline created, because I knew that my body would continue to deteriorate.

It's interesting the things that some people have said to me about this. One of the most hurtful is that I should just think through it. Do you tell someone with down-syndrome to just think through it? If they just try hard enough they won't have down-sydrome?

Well, like down-syndrome, CMT is a mutation of a chromosome strand on my DNA. It can get mistaken for Multiple Sclerosis (MS) but it's not the same. MS affects the muscles directly, CMT affects the nerve endings that send signals to the muscles. It makes walking on heels impossible, an absence or greatly reduced presence of reflexes (like when they hit your knee with the rubber hammer? On me it's only a slight movement on a good day.) As I've gotten older it's gotten more progressive, which is normal, which means my feet are mostly numb, and my calves are mostly numb. I still have some feeling. I describe it as feeling like my feet have gone asleep like when you sit on them for too long. It's a disease that gives the appearance of being normal in most people except for a few things...

I slap my feet when I walk, I have tight achilles tendons that I have to stretch, I get knots in my arms and legs on a daily basis, I have high arches and a difficult time finding shoes that have the right support that I need, (I'm especially grateful to KEEN and Merrill's because they make shoes that I can wear even if they are expensive), and, because I'm extra special it also has started to affect my hands. I knew this was a possibility but it by and far is one of the most difficult things I have to deal with. Watching my hand dexterity deteriorate and lessen my ability to do the things that I love to do, like play the piano and cello, crafts, writing, drawing, coloring, quilting, crocheting, handiwork. I try not to think about this very often, because, to be honest it makes me really sad. Eventually it will make it so it will be dangerous for me to bake and cook, which is also something that I really enjoy.

I don't know if it's because of the cold weather, but my hands have been especially bad the past few days. I play in a local community symphony, and to be honest, I don't know how much longer that will even be possible. So, today has been a downer day. A day where I give in, and cry, and go, WHY. WHY ME. Why do I have to deal with this? And it's hard. It's hard to see the silver lining. It's hard to turn it over to the Lord and know that this is just the way it is right now.

I know other people have it much worse than me, but it doesn't make it any less sad to me. I will keep plugging along though. I know that having a good attitude is helpful, and even though the music I create with my hands will eventually be impossible, I keep reminding myself that at least I can still sing. And that gives me hope.

Sometimes it's Difficult

About a year and a half ago I finally went to a neurologist and was officially diagnosed with CMT. Yay. They even did a dna test to see which kind I had.

I know that a lot of people probably wonder, why? Why bother with a diagnosis?

A big reason is so that as things continue to deteriorate, eventually I will need more helps. Things like, braces for my feet and possibly my hands. Eventually I will have to have a little scooter to get around. Having it already documented will help out.

On the plus side, the doctors were pretty amazed with how well I am doing and the strength that I have in my feet. I don't know why I have the strength I do, but it is there. Is it because of the chiropractor and the supplements I've been taking? Maybe.

It's all still in a very testing stage. They are testing things all the time on CMT patients to see if they can help improve things.

It's been a rough week. Well, a rough two weeks. There are fluctuations in feeling, and this is one of the lesser times. When my feet start feeling more numb than they were previously, and then my hands. It's harder to control them. My right hand especially has been struggling. Makes me glad I'm left handed! Although, it is interesting in my mind to think, hmm, I guess this is what non ambidextrous people feel like all the time...

It's been harder to play the piano. A lot of what I play is from muscle memory. It's sad for me though. I used to be really good (like really good) at sight reading things, and I can't really do it anymore. I have to actually practice! I'm glad that that is still an option though. The really sad day will be when my hands are so numb, that I can't play at all.

Time Goes By

There has been a lot on my mind lately. So many things, that I honestly don't think that I could just pinpoint it down to one thing. Still, every time I would come to my blog and think I should write something, it just wouldn't happen. Either I was too emotional and the words wouldn't come right, or I would have some kind of just, blank, where there was literally nothing that I wanted to write about.

I have this desire to write something profound, and yet, it's just not there right now.

Then, today I noticed that it has been almost a month since I had posted on here, so regardless of my mindset and feelings, I figured it was time to just write something.

The school year is winding quickly down to an end. Harrison will be leaving the charter school this year, and that just blows me away. If things were now the way they were when I was 14, he would be starting high school. As it is, he will be in high school at his online school, and middle school for his orchestra and seminary classes.

That's the other good thing. Everything is all worked out so he can be in orchestra! YES!

I hope it will be  a good experience all around, and I have a feeling it will.

Hazel will be at the charter school still. I briefly talked to her about whether she wanted to go to the intermediate school next year, but she told me no. I like the charter school, so that doesn't bother me at all.

Jeffrey will still be going to the Early Learning Center next year. That's another thing that I just don't think about. In some ways, I can't think about it, because at this point there isn't a whole lot I can do, and the options just aren't there.

Jeffrey qualifies for the ELC which means he has some learning concerns. I guess what I mean by that, is he has some autistic leanings and his behavior is a big part of why he qualifies. I know that they have been working really hard with him on being more willing to listen to the teacher and be with the group. He is much more content playing on his own and doing his own thing and he doesn't like to cooperate. I know people don't really understand that unless they are around him.

When I first tell people that, they just look at me and sometimes say, "Well, he's three, all three year old's act like that." They're right, it is a common behavior with a three year old, however, there's a range of "normalcy" and he definitely falls to the more defiant/autistic side, many times to the point where he will not cooperate no matter what and then will have a mega meltdown. A lot of this behavior has improved, but it is still there. It definitely acts up when his routine is changed. So, we try to prepare him when we are going on trips, or church, or anything. Sometimes it helps. A lot of times it doesn't.

Anyway, Jeffrey's birthday falls within the school year deadline by a week or so. As soon as he was born I always planned on not sending him to kindergarten until he turned six. I just felt like it would be a better thing. I didn't want him being the youngest in his grade. Well, since he is going to the ELC and it is run by the school district, if I want him to continue getting speech therapy and other services, I would have to send him to kindergarten when he turns five. He can't go to the ELC for three years. So, it is a trick to try and figure out what the best thing for him will be, and whether it would be better to have him in a regular preschool for a year when he is five and then put him back into school when he turns six. I also don't know if it would be better to put him in regular public school or the charter school. I know they have speech therapy and special ed at the charter school, but I don't know how good it is. I guess we will just have to see! It is also about that time that we will have to decide if we want him tested for autism or not. Something to look forward to figuring out!

So, at this point I am just trying to take it a day at a time. Don't sweat the small stuff. Look at the bigger picture. Be positive and don't focus on all the dark unknowns.

Most of the time I can do this. :)

My CMT has been really acting up the past month. Where my fingers were just super mildy numb... it has gotten worse. (No guys, it's not carpal tunnel syndrome. In fact, if I had that surgery done, it would make my condition a million times worse.) I have a harder time keeping a grip on things. I've been dropping things a lot. Of course, my feet have been affected as well. I have been tripping more and losing my balance. It's a little disconcerting at times, and I just have to breathe and be glad at the things that I can do.

I did get my flowers all planted though, and I'm glad that I did. They are so pretty and beautiful and it just makes me smile to see them. I planted geraniums in my window boxes. Geraniums were just meant for window boxes! They love it! I love it too. I love opening my blinds and seeing these big beautiful blooms of color with gorgeous green leaves. It just starts me off on having a good day.

Music, Books, Kids, and more Music

It's been an interesting spring. Remember when I wrote about how my son is in the local youth chamber orchestra and how I missed playing? Then I wrote about how much I have enjoyed playing my cello lately...

Anyway, the youth chamber orchestra usually has a "specialist" for each section of strings. Imagine my surprise and outright shock when they called me and asked me if I would like to be the cello string specialist for the chamber orchestra. I seriously had no words! I told them that I wasn't as good as the previous cello specialist, and they told me that was ok. So, after a discussion with Shane (who literally was looking at me like, "why are we discussing this, and why aren't you on the phone telling them that you'll do it?!") So, of course I accepted.

I admit a huge part of me keeps wondering when they will figure it out and realize they made a mistake in asking me.

I guess that's one of my biggest issues. Feeling like people are always thinking I play terrible. I know they don't. I know that unless I play a squeaky high note, most people are just amazed that I play an instrument and think it's super cool!

So, playing with that group has been really fun.

Then I have my two cello students (yep, you read that right, TWO) and honestly I am ok that there are just two. It's been an adventure since one of them is young. Nine years old. And that has been really interesting. Who knew that my primary teaching skills would come in handy teaching a nine year old?! Not me.

Add to that my part time library job which I love, and 98% of the time my music doesn't even interfere with it.

Plus a spring concert with the local community orchestra which I also play in, and rehearsals for that, and they are playing some difficult music...as in, I haven't played music this difficult since I was in college, so that has been an adventure!

Plus kids, school, preschool, and everything else.

Equals a very packed schedule. At least what feels like one to me. It's an enjoyable busy though. Not a stressful one most of the time, and that is the key ingredient right?

An added bonus is that playing the cello is good physical therapy for my hands, and that is definitely a great thing.

Surgeries, Health, and Music

My world has been a bit eclectic lately, so I felt like the title fit well.

It's kind of interesting to post something about surgery, especially the surgery I am getting prepared to have. Prior to getting pregnant with Jeffrey I had a diagnostic lap surgery where they were going to remove a growth from my uterus. Before that I had struggled for seven years to get pregnant at all. I got pregnant once in that time, but I miscarried. It was a rough time. When I had that surgery it was discovered that I had endometriosis. BAD endometriosis. It was stage 3 which is one of the higher levels of endometriosis. Knowing what I know now, I realize what a miracle it was that I became pregnant with Harrison and Hazel at all. I consider it a huge blessing that I didn't feel or experience the level of pain that most women feel with this condition.

So, during that surgery, they cleaned out the endometriosis the best they could. My cycles after I had Jeffrey were heavy but not bad, and more regular than they had been for a long time. This would probably explain why I was able to become pregnant with Emmett and had him when Jeffrey was 17 months old.

Well, now things are terrible again. The hormones, the mood swings, the PMS, the bleeding, the cramps, etc... etc... it is awful. Every time my period comes, is not a great thing. It's hard on me, it's hard on my family, and I am always relieved when it goes away again.

We decided that it was time. So I am preparing to have a hysterectomy. I am having it done all laparascopic which I think is pretty cool. The doctor I go to specializes in doing this type of procedure and was trained by one of the best surgeons in the country. He is also very fast. I asked him how long he thought it would take and he told me the hysterectomy portion would probably take an hour.

I know that probably sounds like a long time to people who have never assisted on surgery, but I've assisted on lots of hysterectomies and that's super fast! Even a surgeon who is really good at doing vaginal hysterectomies usually takes 2-2 1/2 hours.

Laparascopic surgeries usually take longer anyway, because they are being done with a scope. So, an hour is pretty amazing.

Of course, I will be having my endometriosis cleaned out as well, so that will probably add another hour to the surgical time.

I feel at peace with it. That among many other things lets me know it is a good choice to make.

I think I wrote previously about how my CMT (charcot-marie-toothe) syndrome is getting worse. I am sure that eventually I will have to get an official diagnosis from a neurologist just to say that yes, it has been scientifically diagnosed, but it is quite obvious that I have an active form of it. I have been trying to keep the muscles I have working, especially in my hands, but my right hand has really been acting up lately. My fingers kind of spasm and wont' move correctly.

That makes me kind of sad, but, oh well. It is something I will have to get used to dealing with.

At least I can always enjoy music with my ears or even memories at the very least.

And with that, here is one of my favorite songs, Absolutely breathtaking, sung by Alfie Boe. I hope you will take the time to listen.

Just One of Those Things

As life moves on and I continue to grow older, certain things start changing. In my family there is a neuromuscular disorder that involves the myelin sheaths on the nerve endings in muscles. It sounds super exciting I know.

Anyway, when my dad was young, it was this condition that kept him home and away from the Vietnam conflict. He always tells us it's the one time his condition was a blessing. It's called CMT syndrome or Charcot-Marie-Toothe Syndrome. A lot of people have it. Some have it and don't know they do, some have it and are in a wheelchair their whole life. It goes across a whole spectrum of intensity.

As research continues on it, it is actually even divided up into subcategories. It's kind of interesting to read about, if it wasn't so discouraging to see the effects in my own life.

It typically affects the feet, and sometimes the hands. My dad, as he has gotten older, has had to have both his ankles fused, his feet have major issues, and his hands are numb to above his wrists. He can still use them, but he can't feel much. It's like when your legs go "to sleep" when you're sitting in the same position for too long, except, they always feel like that.

Anyway, when you have CMT and you have kids, your kids have a 50-50 chance of getting the condition. Out of the seven kids in my family I think maybe two don't show any symptoms at all. In girls if they don't show symptoms, they can pass it on to their kids because it is just dormant. If their kids don't show any symptoms, it usually ends there in that line.

Well, now to me. I have it. Have I been diagnosed, no. I could go through all the hoops I suppose, but it's pretty obvious that I have it. However, having my feet adjusted by our chiropractor really seems to help with the instability that usually shows up in the ankles. Shane says my feet don't slap the floor as much since I've been having them adjusted. So, that's good.

My hands though, my hands are another story. The tips of my hands are numb. I try not to focus on it, and I still play the piano, but playing the cello is a little more difficult. It saddens me, but I just plug along, hoping that just the tips of my fingers are all that will be affected. I have beautiful writing, and I would hate to lose that. I see what my dad struggles with on a daily basis, and hope that I don't get to that point.

As I watch my musical talent decrease it just makes me sad some days though. I used to think, well, I can still sing! After having surgeries though, even my voice has changed, and sounds hoarse and scratchy, and not rich and beautiful like it used to. I hope it I rest my voice that it will gradually come back. I guess we'll see.

I have so many other blessings in my life though. I'm glad that music is just one area and not the whole thing. Still, music has always been a pretty big chunk of my life. My family still likes to hear me sing and play though, so I'll just keep doing it, and hope that it doesn't eventually get taken away completely.