My diagnosis and progression.
I sat in my room for what seemed like the thousandth night cast away in a deep dark dungeon of thought.
“I have to say something”, I told myself.
I knew that something wasn’t right with my body and it was getting worse.
A startling event a couple of years earlier was the first time that I became fully aware of my progressing muscle weakness. I had walked over to St. George, my 9th grade Jr. High School at the time, dribbling a basketball on the way there, it was a nice summer night in Winnipeg and I figured I’d shoot a few hoops.
As I shot at the basket I kept missing. Except I wasn’t missing in the usual way – too far left or too far right. I just wasn’t able to reach the height of the basket. To me it felt like someone had snuck into the schoolyard and secretly raised the height to 12 feet. It sparked some panic into my heart and I couldn’t stop replaying it in my head.
I was wondering what was the best way to approach my mother. It had started with basketball but now I was having trouble riding my bike, climbing stairs, rising from seated positions and was having numerous slips and falls on the ice not to mention fracturing my shoulder falling down the basement stairs.
From all of the information I could gather in this pre-internet world I was living in, I had deduced that I most probably had some kind of muscular dystrophy or inflammatory disease.
I sat down with my mum trying to hold back a flood of emotions as I began to explain the physical symptoms I had been experiencing over the last couple of years. She had thought that I was simply too lanky and tall for my age and that it was due to teenage awkwardness. I must admit that I did a good job hiding it from everyone.
Shame and embarrassment were the main emotions I had been experiencing. You would have thought that it was fear but at the age of 15-17 the last thing a teenage boy wants to deal with is looking like a freak.
I find it hard to recall my mother’s reaction to the news. My mother was generally a pretty anxious person and I’m sure she spent a lot of time obsessing about it. We called my pediatrician and set up an appointment to meet with him as soon as possible.
My pediatrician’s name was Dr. Beasant . He was a tall, older, heavy-set man with rosy cheeks and he liked to wear his glasses on his nose. Dr. Beasant had a very dry sense of humor it was often difficult to tell if he was joking or not. My mother and I were anxiously waiting to get into the exam room. Once in the room, we waited a few minutes until the doctor walked in. The first thing he wanted me to do was to strip down and sit on the floor. Now, this wasn’t something that I was really excited to do because it was extremely difficult to get off the floor and I didn’t really like the cold tile on my body too much. I was then asked to stand up from the cold tile floor. One of the earliest signs of muscular dystrophy is something called the Gowers Maneuver which is the way a person compensates for muscle weakness to get up from the ground.
People with MD usually get on both knees first and have their palms on the ground then we put our feet out behind us and typically lock the knees we then use our hands to push our upper bodies off the floor because of weakness in the abdominal and back muscles.
After having all that fun getting down on the floor and back up like some sort of laboratory monkey we went through a complete physical and the doctor asked a lot of questions about my physical abilities. He noticed that my calves were enlarged. After checking me out thoroughly he told us that he thought I either had some kind of muscle inflammation or muscular dystrophy and that he was going to refer us to a neurologist.
Electromyography or EMG for short is a fun little test that sends electrical pulses into the muscles and measures the responses. It wasn’t awfully painful but it felt strange being poked and shocked from head to toe. This was one of the first tests that I remember having along with a blood draw to check my CK levels. The CK levels in my blood were elevated in the 500-600 range. I believe 80-100 is normal range. The CK levels can show elevated enzymes caused by muscle deterioration. The date was July 29th, 1994.
At this point the tests were showing enough abnormalities to schedule a muscle biopsy, a procedure I was not looking forward to.
In August of 1994 I went into St. Boniface hospital in Winnipeg MB Canada to have a muscle biopsy. It was an outpatient procedure and was not really painful but very uncomfortable, I recall needing some orange juice and a few minutes to get my head together afterword.
I sat down in a dentist like chair, the nurse shot my shoulder with something to numb it and then they went to work. They sliced open the shoulder and got in pretty deep to get a sample of my right deltoid muscle. The doctor joked that he wasn’t sure if I had enough to find any, which my keen sense of humor didn’t find hilarious at the time. After they finished I got stitched up and to this day I have a beautiful scar, except now it’s hidden under a lone wolf tattoo.
On September 1st, 1994 the results came back to my doctor and they were another disappointment confirming muscular dystrophy.
After his office received the report the doctor referred Mum and I to the genetics clinic at Health Science Centre for November 14th, 1994 to go over all of test results. This was basically going to be the big reveal. I had not yet known the results of my muscle biopsy nor did my mother. We didn’t know if I had a treatable condition or a terrible neurological disease. We were very anxious and hoping to hear the best news, I remember praying for a curable muscle inflammation diagnosis. It would be difficult to explain all of the thoughts and emotions that I had leading up to this appointment, I mean, I was basically about to be told that I had something a pill could treat or an incurable disease that was going to affect me forever. For an 18 year old it was the most important meeting of my life.
The neurologist was sure I had a type of muscular dystrophy but he was only 80% sure I had Limb-Girdle MD as he believed my enlarged (hypertrophic) calves pointed to the possibility of Beckers MD which is a more aggressive type of muscular dystrophy. He referred us to a genetic specialist.
The lab sent the results of the further dystrophin studies to him on November 16th 1995. We received a final letter dated November 27th, 1995 concerning the further test results of my biopsy and a summarized prognosis.
Finally. It was confirmed that I did not have Beckers Muscular Dystrophy and I officially had a clinical diagnosis of Limb Girdle Muscular Dystrophy.
My simplest definition for Muscular Dystrophy is that the muscle cells leak the protein needed to maintain and build muscle thus resulting in progressive muscle loss. There are many different types of MD, the kind they think I have is not supposed to affect any internal muscles, such as the heart. After being diagnosed, there was nothing that they could do for me except tell me to check in once and a while to see how I was progressing.
I was able to walk without assistance until about age 32. By then I had begun falling and injuring myself quite often and I was only able to walk short distances. I was also becoming unable to stand up from chairs and needed to sit at bar stool hight. I got a scooter and used it for about two years until I could no longer stand at all before I got an electric wheelchair. I have been in a wheelchair since around age 35. I am still progressing slowly and need help with everyday tasks that most people take for granted. I am basically in the same needs category as a quadriplegic would be in as far as the ability to perform daily activities.
As I am writing this, I am looking out of my kitchen window at the lake and realizing how blessed I am. I never let MD kill my dreams and have a pretty normal life considering the fact. I have experienced a full life for someone my age, from running a business to having children it has been very complete. Now that I am fully disabled I still find myself so fortunate -living with the love of my life and her sweet daughter while still being able to enjoy nature and write.
I hope this blog post helps you understand what being diagnosed and living with a progressive disease is like. My hopes are that it wasn’t too depressing and answers questions that most people are too afraid to ask someone like me.
Signing off for now,