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.
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