Myotonic Muscular Dystrophy Type I

OK the strangest thing just happened. I have been an advocate for people with Myotonic Muscular Dystrophy for The past 6 years. I have no problem talking about it, raising money for it nor helping people who have it. Yet when I finished this Lens and published it and was taken to the page that tells me to let everyone know about it, I hesitated. Suddenly I thought of the hundreds of people I have on facebook, some who know me, some who are just associated to me in some fashion, and I could NOT push that button. Was I embarassed or worse yet, ashamed? Why is this lens so different than any other?
Of course the answer to that is simple. It's different because it's raw. It leaves me completely uncovered and unable to hide. It speaks of the most intimate part of my life, the part that makes me most vulnerable. Still, we best write about what we best know, don't we? Interesting.

I don't think I can push that button today. Another time perhaps. For now, I just need to ease slowly into the water. No great cannon ball strategy here.

Myotonic Dystrophy is the most common adult-onset of the dystrophy family. Still this genetic disease is relatively rare affecting approximately 1 in 30,000 people worldwide. To date Myotonic Dystrophy is broken into two major types, Myotonic Dystrophy Type 1 and Myotonic Dystrophy Type 2. The primary topic of this Lens will be Myotonic Dystrophy Type 1 or DM1.
DM1 is a genetic disorder. The parent who has it has a 50/50 chance of passing it on tho his or her children. Since it is primarily and adult on-set disorder it is possible a parent may not know they carry this genetic predisposition until after they have had children.
DM1 is typically divided into three sub categories; mild, classic and congenital. Congenital is certainly the most devastating, affecting newborns.

DM1 is a crazy thing. Once it gets into some families it really runs amuck. In my family it started with a maternal Grandfather who had 7 children. More than likely 7 of those children had the myotonic dystrophy genetic make-up. The youngest child was my Mom. Some had many symptoms, some had mild symptoms (like my mother) and another had no symptoms at all. The problem is that once it is passed from parent to child the mix-up in the genetic material amplifies. Simply put, a child of a carrier of DM1 will have more severe symptoms then the parent. This is a pretty simplistic way to explain it but the scientific stuff can be found on plenty of other we sites. I just want people to understand it all.
Anyway this defective genetic mishap is called a Repeat. Let's say our genetic make up is like a chain. The chain is made up of different shaped links. Square, round, oval, triangle. Now lets incorporate that into a pattern something like this: Square, round, oval, triangle: Square, round, oval, triangle. Lokkin' good! Now let's say the dog gets into the links. He eats all of them except the square ones before you can stop him. Rats. You have a half finished chain. Lets just continue repeating the squares. Sure, in the end you still have a chain, but the pattern is gone. Something is missing and you have way too many squares. It's out of balance.
In the case of DM! there was some pretty important stuff in those missing links. In a normal person the repeated 'links' or pattern of genetic material is 2 to 35. The repeated section in a person with myotonic dystrophy type1 has repeated itself anywhere from 35 to 1000 times.
For reasons not completely understood yet, that can cause wide spread problems in the body. That's it in a nutshell. Believe it or not, if you just waded through this simplistic explanation you now know more about DM1 that most doctors ever will. In fact most doctors will never have a patient with this disease in their entire career.

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Myotonic Muscular Dystrophy (yup, yet another name for it) didn't just sneak up on me. There was an obvious pattern developing in my family, and it was something I talked a lot about with my mother. She was pretty certain that I had it by the time I was in my early thirties. I managed to push the thought away pretty well until I was forty. By then it was getting pretty tough to ignore. I had myotonia in my hands, face, tongue, and feet. I had gone through menopause at a very early age, and I was tired and in pain quite often. When I was fifty I decided to have the DNA testing, partly because I was seeking better medical advice and partly because something in my brain needed that definite answer. In a way it validated the way I had been feeling.
Of course learning the truth was an adjustment, even though I was already certain. I allowed myself to mourn for a couple of weeks and then I indulged my stubborn streak. The one that I had worked my whole life to subdue. I wasn't going down easy. I would take one day at a time, do the best that I could for as long as I could and advocate for this rare, miss-understood disease. I would lobby for research and beg for funding for that research.

I don't know many people who have myotonic dystrophy. My family members who have or had it have either passed away or are in such denyal about it they won't speak to me at all, about anything. It seems to make them feel uncomfortable that I stepped up and took the DNA test. The fact is, that the way we chose to deal with things is very personal and this is my way. It would benefit research greatly to have a family as affected as ours to provide information, but my family is unwilling to participate and so be it. I respect their stance on it.
Consequently I meet other DM patients online. There are some wonderful support groups out there and having a few people to talk to who understand what my life is like is very important to me. Helping other people is also a very important part of my life.
I do know a few people who have MS (Multiple Sclerosis) and interestingly enough we do share some symptoms. In fact so many people have such a difficult time understanding the whole myotonic dystrophy thing that most people tag me as the "multiple sclerosis lady". I just go with it. If that helps them better understand me then so be it.

One of my MS friends says "One of the perks of these diseases is, we don't have to drink anymore. We can stumble, slur and fit right in with the drunks just like we are."
She' is right about that. At parties people often think we are tipsy from too much drink. Not so. Like many disabilities we wax and wan, very often within the same hour. What was an invisible disability yesterday may be triggered into a full blown visible disability today by fatigue or simple nervous tension. My new doctor even stated. "I guess you don't drink much do you?" He thought a minute and said, "yeah that would be a riot wouldn't it?" Then he laughed. Fortunately I like a doctor with a sense of humor.
Another MS friend has this to say. "I've only had to buy one book in the past five years. By the time I finish it, it's all new again."
The most wonderful thing I can share with these ladies is our ability to laugh at ourselves and each other.
Sometime I will tell you more about how we met and how we keep each other going.

You are probably wondering why I feel that way. Well I have been given two options. One, is to cry when I can't get my feet to work, or remember how to turn off the TV. The other is to see life for what it is (a temporary inconvenience) and try to see the humor in things. Given the choice to laugh or to cry I will laugh anytime.
My mother used to say "Everybody gets wrinkles eventually. Do you want frown wrinkles or smile wrinkles?" I want smile wrinkles like my mothers. My husband helps me see the humor in things. He teases me about the times I get lost going to the same place I go everyday. Last week I was lost for 45 minutes. I get to see a lot of things I wouldn't otherwise :)
My mother also said, "I need to get busy. When I'm dead I'll have all the time in the world to rest". How do you argue with that kind of logic? I try to remember that when the body gets tired.
After I was diagnosed I was overcome with a sense of urgency. I had a Bucket list a mile long. I realized that there were some things that were now or never on that list. I still had some hikes that were on that list. Quite a few things were already out of my reach. I don't know if I became a little OCD at that point or what, but I liken myself to a hamster in a wheel. I just run and run and run. I don't know if I'm getting anywhere, or accomplishing anything, but it feels good to keep going. I push myself very hard. The end result of that is usually a three day stint of bed rest but that's ok too.
As for that Bucket List, well I'm still adding things to it and adapting. Maybe I'll make it a Lens someday.

Life is a gift.
Life is what it is.
Life is temporary.
Life is short.
Life is silly.
Life is an adventure.
Make the most of it.
All things are temporary.
Kids are strange.
You only think you know yourself.
Husbands are stranger.
I have myotonic muscular dystrophy-it does not have me.
When in doubt, just laugh.

All kidding aside the worst part of finding out I had a genetic problem, was the realization that I may have already passed it on to my children.
All any mom wants only the best for her children. Feeling that you've handed them a disability is not something any of us wants. It goes against the very nature of nurturing and mothering.Many people have asked me, including my kids, if I would have opted out of having children had I known about this thirty some years ago. The answer to that is a resounding NO. I love my children very much, we have shared beautiful moments together as a family and I would do it all again just the same if I could. That probably makes me a selfish person and if it does than so be it.
There is the feeling of guilt that goes along with that however. For me at least, that took time to learn to deal with. If they did have it would they blame me? Could they deal with it? What about their spouses? This disease affects them too. After that my train of thought go even worse. What about their children? Neither of them had any biological children at the time I was being diagnosed. I was blessed to have two step-grand children. I can tell you that of all the things and feelings I encountered those first few months during and after diagnosis, these were the worst.
My daughter had a baby about a little over two and a half years ago. A beautiful perfect little girl. What a weight was lifte off my shoulders when that little girl was born OK. Earlier this year we would discover there was no "bad" DNA in my daughter.
My son and his wife have stopped trying to have a baby. Their daughter is now 15 and they feel like a new chapter is about to begin for them. Did DM1 weigh into this desision? Unfortunatly I believe it did. My son would never tell me that though. He would more likely spare me anymore guilt than I already have. Eric is 36 now, about two years younger than I was when i developed cateracts, one of the earliest symptomes of DM1. Is he OK? I think so. Maybe I just pray so hard that it distorts my perception. Still, he seems very strong and well and happy, so I'll just go with that for now.

My Wedding was the first greatest day of my life. I was young and in love with a handsome guy. I remember yellow roses, white carnations and saying my vows in my parents livingroom amongst a close circle of friends and family.
Then there was the birth of my children. My son Eric came first and his sister Lizzi 7 years later.
Over thirty years later I finally moved into my "dream" home.
Early this year (2011) I discovered that my daughter inherited only good genetic material. That means that she AND my little Grand-daughter are going to be just fine.

When something new comes up and I can no longer do a simple task such as opening a jar of peanut butter, or not longer being able to squeeze the toothpaste, I work on finding a solution. Sometimes frustration can breed very good ideas!
I mentioned the part about the hamster wheel. I am compelled to do, see, be everything I can in whatever time I am alotted. When I began reading statisics and talking with proffesionals about my diagnosis it really drove home the point that life really is only temporary and I could not waste even a moment of it. As impossible as it may seem, I even learned to embrace my disease and allow it to become a part of me. This was a giant leap, and it tested my spritual strength on more than a few occasions but I knew that I had to come to terms with it.
I love being a mother and grandmother. I love doing volunteer work. I love helping people. I even love my job most of the time. Whatever it is I am doing I try to throw myself into it to a point where everything else fades away. That's my compulsion. I bury myself in details and strive for perfection in everything I do.
Myotonic Dystrophy is often called a "wasting" disease because of the wasting away of muscles. I intensely dislike that term. Wasting away=wasting of life. It conjures up the image in my mind of someone just fading into the woodwork like a ghost in a b movie. There will be no wasting away at the end of my life, rather a resounding "click" like the shutting off of a light.
If you discover you have a disease like this, or any other serious ailment, you have to come to terms with it. You may find you have to redefine yourself. That doesnt mean that you have to lose yourself in the process...it may mean that you learn great things about yourself. You have to keep your eyes and your mind wide open so you don't miss anything.

Every year at this time I begin to look forward to the MDA Telethon. It has been a family tradition to watch it and contribute to it for years. Myotonic Dystrophy has taken a terrible toll on my family. Our family reunion would be quite unique in that the Elders of our family are in their 60's. Aunt's, uncles, cousins are gone. THis is the time of there year when I also hear many disparraging remarks about the Telethon, and the Muscular Dystrophy Association. I hear things like "That money goes in peoples pockets." "Hardly any money is used for research or actually helping people." "It's the worlds biggest scam."So for the record I thought now would be a good time to discuss it.
We joke that Jerry Lewis has been a part of our family for years. He joined us in about 1968 when it was first discovered that an Uncle probably had some type of muscular dystrophy. It wasn't until the 70 when myotonic muscular dystrophy was isolated and attached to our family heritage. My mother had given to the telethon since it's beginning, never dreaming that she would be helping so many members of her own family.
Here are a few things the MDA has done for my family, not to mention the thousands of other families dealing with the other 42 varileties of MD.

MDA has made it possible to conduct millions of dollars worth of research, enabling members of my family to get a correct diagnosis. This is important for recieving proper treatment and keeping us safe while we undergo a simple surgical proceedure or even our dental work. One new discovery is how to keep us alive when we have to be put under for surgery. That's important to me.
MDA offers state of the art clinics that any Muscular Dystrophy Patient can go to free of charge. Many members of my family have gone to the MDA clinic over the years. I go there once a year for a complete rundown of tests that would cost me and my insurance company thousands of dollars. I in turn get qualified care for a disease that most doctors have never heard of and my stats are contributed into a pool for further reasurch.
MDA has come into my families homes and installed bathtubs chair ramps, lifts, oxygen and countless other devises allowing my family members to remain in their homes throughout their lives.
MDA helps us purchase or borrow foot splints, arm splints, walkers, canes, speacial eye gear...the list goes on.
MDA offers excellent nutritional services that have helped many of us stay alive.

I could ramble on like this for hours but I think you probably get the point. The Muscular Dystrophy Association has raised millions and millions of dollars both for reasearch and to help patients. Your money goes from your pocket into the MDA to help families like mine, children and adults. It gives families like ours not only hope for their loved ones, but hope for the future through research. Progress is being made everyday in understanding and curing Muscular Dystrophy in it's many forms. So don't listen to the person sitting beside you at the bar or in that office cubilcle when they try to explain to you that the Association isn't what it seems. Ask someone who knows. Ask someone who has first hand knowlege.