Things I have learned

Some people might be wondering why I started a blog about my disease.  I think the answer comes down to impressions that I consistently received over a few months time.  I hope to help others who might be struggling with the same disease or something similar. 

I have learned that I am not Super Woman - no matter how much I tried or longed to be, I wasn't and never could be.  I have learned that my body has limits (every individual has limits at varying levels) and that if those limits are exceeded, then negative and difficult consequences arise.

I have learned what has truly been plaguing at least one side of my family for generations (not rheumatoid arthritis, as was believed).  When I shared my diagnosis with my mother-in-law, I commented to her, "It's nice to know what is really going on and that I don't need to pump my body full of medications for a disease that I don't have."  She simply replied, "Knowledge is power, Gina."  That phrase has stayed with me and I use it in all areas of my life, not just those relating to my disease.  I have learned what works for me and what doesn't, and hopefully that personal knowledge can help others and possibly my posterity if need be.  I feel like I've been able to live a much healthier lifestyle thus far than I ever saw my mother have, because I know what the problem really is (not just the closest thing to it).  I saw my mom hurt physically and emotionally for years and often wonder what her life would have been like if she had known what condition she truly had. 

My husband has referred to my disease as my invisible backpack, and I think there is a lot of merit in calling it that.  Some days I feel like there are 200 lbs. in my backpack, and sometimes I can't even figure out why.  Other days I feel like there are only 5 lbs. and it's not that big of a deal.  I know that I "look" relatively healthy to others who don't know me or know what I struggle with, but I'm not and will not be in this life despite my best efforts. 

I have learned that everyone in this life has an invisible backpack from time to time - whether it's filled with physical, emotional, or mental burdens doesn't matter.  I know how hard it is carry invisible backpacks full of just emotional burdens or just physical burdens and I've carried a backpack jammed full of both.  Whatever the backpack is full with, it can be hard and it hurts - as a result I have learned not to judge others and to try to treat everyone with kindness.

I have learned to be grateful in spite of my challenge.  I wouldn't say that I'm grateful to have Myotonic Muscular Dystrophy Type 2, but I am grateful that I don't have a more severe form of muscular dystrophy.  Many forms of muscular dystrophy can be fatal within 2-10 years of diagnosis, but mine is not like that.  I am grateful that I can be a caregiver for my husband, our four children, and often to others around us, and that I don't need a caregiver (at least not yet and hopefully not for at least 30 more years).  I miss being able to throw a softball from on my knees behind home plate to second base, throwing the runner out who is trying to steal from first.  I miss stretching a base hit into a double or triple by smart running.  I miss shooting the basketball from behind the 3 point arc and knowing that it will be a perfect swish in the basket from just after the ball leaves my hands.  I miss stealing the ball and passing it off to a teammate for an easy lay up.  I miss having my athletic ability.   But I am grateful that I have found satisfaction and fulfillment with the simple things of life - like teaching my children how to throw, catch and kick a ball without being afraid of the ball.  I enjoy making my family dinner, and meeting the needs of my children and husband on a regular basis.  I enjoy making someone's day or week by delivering cookies to them or just by calling them to let them know that they were thought about.  I find some satisfaction in volunteering at my children's school once in a while.  I am grateful that I can hopefully demonstrate a healthy lifestyle with this disease so that my children (if needed) will already have some knowledge of what will work and what won't, when it comes to living with this disease.

I find a great deal of satisfaction in coming to know my Savior Jesus Christ better and trying to become more like Him.  I am grateful to belong to the Church of Jesus Christ of Latter-day Saints, and for the knowledge that I have of my Heavenly Father's plan of salvation for all of His children.  I am grateful to know that His only begotten Son suffered the Atonement for me.  I am grateful to know that Jesus Christ is aware of all of my pain, that I don't have to lift it all on my own or to feel alone in my pain.  Overall I am grateful for my life.

How My Life Has Been Affected By DM2

At first I just noticed some stiffness, mostly in my legs and hands, and some achiness, mostly in my hips and arms.  I noticed that following a walk or some other form of activity the stiffness was lessened and the achiness went away for the most part.  As time has gone on and I have aged I've noticed the disease becoming more of a burden.  Stairs are hard to climb, because my muscles are stiff and can't relax as quickly as I need them to in order to do stairs without pausing.  My hands will lock up around a cooking utensil or a pen and I will have to manually straighten my fingers with my other hand.  It is also painful.  Imagine walking around tense all the time.  A lot of us naturally carry stress in our shoulders or neck area, and after a while it becomes painful - it's like that all the time with this disease, but not just in the shoulders and neck.  My jaws become tight and painful which can often lead to migraine headaches....

Sometimes people ask what I mean by stiffness.  You know how you try to pour molasses or honey out of a jar and it's slow moving?  That's what it feels like with my muscles - I want them to move without problems, but my disease often makes them slow like molasses or honey.  When I go up stairs I have to stop and wait when my legs are stiff, otherwise I will trip.  After standing up, I have to stand still for a minute before I try to move.  I have to give my muscles time to recover and get ready for the next movement I ask of them.  These pauses are only noticeable by those who know what I struggle with and how it affects me, but I suspect that as I age and as my disease progresses the pauses will be longer and more noticeable to others around me.

Cold temperatures aggravate my condition.  When people feel cold they tend to draw their body in on itself in an effort to help generate more body heat.  When I draw my arms closer to my chest my shoulders and neck scrunch together as well.  That scrunching will make me tense and the cold makes my muscles more tense.  Most of the time I don't even notice when I'm doing this.  Since my natural resting state is somewhat tense already, feeling even a little bit cold will make me scrunch and then become even more tense.  I like to dress with the seasons, but I tend to overdress in the winter or just wear the warmest sweats I can find and try not to leave the house.  A person's muscles can become so tense that it can lead to inflammation of the muscles, which is much more painful than just the tense muscles themselves.  So I try to dress warmly and stay home when possible.

A frequent question I get is, "is there any medication that can help you relax and/or keep your muscles relaxed?"  The only thing I'm aware of are muscle relaxants.  I tried a muscle relaxant once just before I was diagnosed - it worked for about 2 hours and it was hard for me to function because my muscles felt so different than they typically do.  I couldn't tell if my legs were where I needed them to be to navigate stairs.  From what I understand, the muscle relaxant I took was supposed to work for at least six hours.  It only worked for me for 2.  Muscle relaxants can also be habit forming.  I've decided that for me the risk is much greater than the payoff. 

Another question I get is how do I manage to keep the pain at a tolerable level.  Most of the time my very patient and understanding husband will give me massages where I need it the most (usually my shoulders, neck and jaws).  The massaging can help work out a lot of the tension that was accrued that day from just doing my daily thing and nothing strenuous.  The remaining tension builds up over time and my muscles become inflamed.  At that point when I do receive massages it becomes more harmful than beneficial, and it's so painful that I tense up in other areas during the massage.  On those occasions I will take two ibuprofen to take the inflammation down.  After the inflammation has decreased massages are more effective in getting my muscles to relax.  I don't like taking ibuprofen frequently since I am concerned that my body could develop an immunity to it and it would lose its efficacy over time.  I do take fish oil (which is high in Omega-3 fatty acids) twice a day, which seems to help to control the inflammation levels.  I've tried going without for a few days as an experiment, and I hurt throughout my body (not just my typical trouble spots) in two days.  Fish oil seems to make a difference for me and I will continue using natural supplements to help me manage.

Exercise is another way to help keep the pain at bay.  I have to find moderate, low impact exercise for it to be helpful.  I walk two miles every day to help keep my strength up and to keep my muscles moving.  Muscles that don't move will build up lactic acid and lead to inflammation.  If I exercise too much or do something too strenuous then I overtax my muscles and make them tense.  When that happens I often have to take one or two days "off".  I don't exercise on those days and try to relax on the couch as much as possible.  But too much of taking it easy leads to achiness from not using my muscles.  It's a fine balance.  I used to lift light weights to help maintain my strength, but I noticed that my muscles became inflamed much quicker than when I wasn't lifting.  Walking and swimming are low impact, but are great for maintaining strength.

Over time I did notice one thing that consisently seemed to make my muscles come to the point of inflammation rather quickly - sugar.  Whenever I had desserts with quite a bit of sugar in them, within about two days my muscles would become inflamed and the only thing that would really help would be ibuprofen.  After thinking about why sugar might have such an effect, I realized that my muscles aren't normal and they therefore don't absorb and process glucose the way most muscles do.  People with Myotonic Muscular Dystrophies of any sort are at a higher risk to develop diabetes Type 2 because their muscles can't handle glucose very well.  After cutting sugar (white, brown) out of my diet, I have felt better and my muscles don't tense up as quickly as they used to.

Muscular dystrophies tend to make a person more fatigued than the typical individual.  From what I can gather the doctors aren't sure why that is.  I have noticed that no matter how well I sleep the night before, I still feel quite tired the next day.  Being tired is a part of my everyday life; there are different levels to the fatigue, but it's always there.  I have learned to work through it.  I will often just stop everything and rest my body for about 30 minutes with my eyes closed - most of the time I don't fall sleep, but I still feel somewhat refreshed after resting.  I do need to get at least 8 hours of sleep at night, otherwise I really struggle the next day.  If I didn't sleep well or enough I tend to tense up rather easily.

My disease

            Starting my own blog about my health has been on my mind a lot in the past few months, more so in the past two weeks, so I thought I had better do something about it.  I hope to inform others as to what Mytonic Muscular Dystrophy Type 2 is, my efforts to understand this disease, and my attempt to still have an active and meaningful life.

 

            We moved to Madison, WI in June of 2007.  In the early months of 2008, during the winter, I was noticing a lot of stiffness throughout my body.  I went to see a rheumatologist.  Throughout my life I always saw my mother struggle with what everyone thought was Rheumatoid Arthritis.  I was also told that my maternal grandmother also had RA, so when I started to get stiff I logically thought I also had RA.  The Rheumatologist examined me, asked questions and looked at my blood work results which showed slightly elevated CK (a muscle enzyme) levels.  He told me that I didn't have RA, but that I had fibromyalgia, but recommended that I get a muscle test (EMG) done to make sure the elevated CK level was just from exercising (it's normal for CK levels to be elevated following exercise) and nothing else more serious. 

 

            On a Thursday morning I had the Electromyography test done.  During the EMG test, I laid on a table and they put electrodes on various parts of my body to see how my nerves responded to stimuli (those results were normal).  The second part of the test required inserting a needle into various muscles while at rest and while moving.  Normal results for this test would only show spikes on the monitor or emit a little bit of sound from the speakers while the muscles were being moved.  When the needle was placed in my arm, there was noise.  When my muscles were moved there was a lot of noise.  The needle was then placed in my leg, the same thing happened; when they were still there was noise, and when moved there was a lot of noise.  The monitor was turned so that I could see what was going on.  The EMG is similar to an EKG (a heart monitoring test) in the lines that are drawn - small, regular rises are good.  My lines were all over the screen up and down with high peaks and low peaks, and there was no distinct pattern.  The muscle portion on my EMG test was quite abnormal.  The technician performing the test was not allowed to tell me anything about what that might mean, but said that I needed to make an appointment with a Neuromuscular Doctor.  I went home fearing the worst and made an appointment with the Neuro. Dr. 3 months away was the soonest they could get me in!!!  The next day, Friday, I received a phone call from the Neuromuscular Doctor's offices saying they could get me in on Monday, two days away.  I accepted the appointment and then asked why they were moving it up so quickly when the day before I had been told the soonest they could get me in was 3 months away.   The receptionist responded, "We received a phone call from one of your doctors saying that we needed to get you in right away."  I hung up not knowing what to think.  I was glad I didn't have to wait three months, but I was also terrified!  I called the Rheumatologist's office (the only doctor that was aware of me getting the EMG test done) and asked if they had requested that the neuro office see me sooner.  The reply was, "Yes, with an abnormal EMG test like yours there is no reason to have you wait three months."  I hung up thinking, "There is something really wrong with me!"  Those two days felt like two weeks - I spent them wondering if I would live long enough to be able to raise all of my children to adulthood. 

 

           On Monday, I was initially examined and questioned by an intern.  He kept doing the reflex test on my knees and elbows over and over.  After about 10 minutes he left the room and came back 5 minutes later with three other doctors behind him.  The lead Dr., named Barend Lotz, also checked my reflexes and asked a few more detailed follow-up questions to the interns in particular, and asked about any siblings that I have, and if my brother has had any of the same symptoms that I do.  About two minutes after entering the room he told me that I had a genetic disease called Myotonic Muscular Dystrophy Type 2, a disease which was not discovered in the medical community until 2001.  It was commonly mistaken as RA before then , because it was the closest known thing to it before then.  He was highly skeptical that my mom or Grandma had had RA   He explained to me that my muscles do not have the ability to relax fully on their own, and then explained while doing the reflex test again, that most reflexes will kick up and drop back immediately.  Mine kicked up just fine, but would hesitate upon dropping back again and would sometimes not even make it back to the original starting point.  The natural resting point for my muscles is to be tense.  The stiffness I experienced mostly just in the colder months was related to this condition, and cold weather and pregnancy exaggerate the symptoms of this disease.  He also explained to me that my children each had a 50-50 chance of having this same disease; we could get their DNA tested and find out right away, or wait for the symptoms to manifest themselves as they age.  The third decade of life is when the stiffness begins, or earlier during pregnancy for the females.  If a person has this disease it does not vary in severity; if you have it, you have it and if you don't, you don't.  He told me that this disease would make me feel about 10 years older than I really am.  I am at a higher risk to develop cataracts, heart arrhythmia and diabetes.  My muscles would get weaker and waste away and there was nothing I could do to stop it from happening - consistent exercise would slow the process, but it would still happen.  No medications would be helpful in minimizing/stopping the effects.  I would notice the weakening in my hips, shoulders and neck first and it would affect the muscles closest to my core last.  He knew that I had DM2, but to prove it to the rest of the medical community I had to have a DNA test done, which the Muscular Dystrophy Association would pay for.  His parting words to me were that I should be able to live until about 70 or 80 (meaning this disease wouldn't take my life sooner than other things might).

 

            I left his office with mixed feelings.  This will be physically painful to live with.  My life and possibly my posterity's lives will and could be really affected by this.  I will struggle with stairs like I watched my mom and grandma struggle with them - as a child I didn't know why they struggled so much, but this disease explains it.  They didn't have much strength left in their hips.....  On the flip side, I found some measure of peace; I should be able to live a fairly normal life, I should be able to raise my children and have many more years to be with my husband and to enjoy life.

 

          I had my DNA tested in the middle of August, but I didn't receive the results until near the end of September.  I didn't expect it to take 5-6 weeks, but it did.  I still remember that moment very vividly even thought it's been 6 years this month.  I received the envelope and thought about waiting until I was in a private place to read what it said, but this had been a long process to figure out (nearly nine months from seeing the Rheumatologist to receiving my results) and I didn't want to draw it out any longer.
 

I turned away from the receptionist and started to slowly leave the room while opening the letter.  A small part of me didn't want to see the confirmation of DM2, but the rest of me was terrified to see it not confirm DM2, "If it's not DM2, then what is it?"  When I read that my results were consistent with DM2 for a split second I wanted to run and hide, but realized that no matter how fast I ran or how far or where I hid, I would still have this.  It would always be with me, that there really was no escaping it - that is a hard realization for anyone to experience and accept.  Just as quickly as that thought to run came, it was replaced by another just as quickly, and this one was peaceful.  The thought came much louder than the panicked one and it told me, that I would be okay - that Heavenly Father gave me this burden for a reason and that he would also help me to manage it.  I also felt very warm and peaceful during the thought and for some time following it.  The Holy Ghost comforted me when I really needed it.  I am grateful for that gift in my life, for the witness it gave me that day, as it has given me other comforts and testified to me of many other things both before that time and since.