by Bill Mirza, Palm Harbor, Florida
I am an 86 year old white male, living with FSHD for the past 68 years. I wanted to share my life’s FSHD experiences with other individuals who may, I trust, find this brief history of my condition interesting.
I was born and raised in Chicago; the youngest of five sisters and a brother. I believe that my youth was more or less uneventful. I contracted scarlet fever when I was about six years old, at which time our home was quarantined. During this period my siblings were dispatched to live with aunts or uncles, with only my mother and father allowed in the house.
During my high school years I was active in sports. I was a member of the tennis, ice skating and gymnastics teams. However, as much as I enjoyed and participated in these sports, I did not overly excel due to my relatively short stature, and primarily because other team members were just more athletic.
In the early 1950s, an epidemic of paralytic poliomyelitis (polio) crippled thousands of once active, healthy children. The disease had no cure and no identified causes, making it all the more terrifying. According to historical records, about 75 percent of the cases occurred in people under 20, prior to development of Jonas Salk’s polio vaccine in 1954.
Polio is blamed for my muscle weakness
In the summer of 1952 I fell sick with a flu-like illness and ran a high fever for a number of days. I remember my mother and sisters applying cold compresses to my forehead and the back of my neck in an attempt to comfort me. Eventually, my fever broke and I returned to normal. However, after a few months I found that I was unable to raise and hold up my arms, move them outward, or purse my lips together to whistle.
Shortly thereafter I made an appointment with a reknowned Chicago orthopedic physician to assess my condition. Upon completion of his examination, he stated that it was his belief that during my recent illness I had suffered a mild case of polio that involved a portion of my spinal nerves, primarily affecting my scapular muscles, thus rendering me unable to raise my arms.
I had been active in high school gymnastics and began going to local gyms and health clubs in an attempt to maintain my remaining strength. I embarked on a regimen of running, for cardiovascular benefits, as much as three miles, three times a week, exercised on a rowing machine, and lifted weights. What I didn’t realize at the time is that I apparently overdid my workouts.
You have, no doubt, heard the phrase, no pain – no gain. Well, puzzling to me, the more weights I lifted, the weaker my muscles seemed to become. It wasn’t until I met with my neurologist that he explained my dilemma. He said that because of the excessive weight lifting, I was overstressing my muscle fibers. He described the process to that of a bell-shaped curve; rising upwards on one side, reaching a peak, and then descending on the other side. In other words, as long as I kept my exercise within the upwards portion of the curve, it was beneficial, but when I exceeded the peak, overstressing the muscles as I apparently did during my workouts, it became detrimental.
During one of my running sessions on a wood track, my left leg unexpectedly gave out and I went sprawling forward, suffering numerous wood friction-burns. I stopped running for a few weeks, and then resumed my routine. Several weeks later, the same thing occurred. In my zeal, I had apparently overstressed and weakened my leg muscles. I then decided to limit but continue my cardiovascular training on a stationary bike. I now use a recumbent bike.
Classic FSHD symptoms went unrecognized
It is interesting to note that, as in many individuals, my polio was asymmetrical, primarily affecting the left side of my body. As various muscles became progressively weaker over time, I began wearing an ankle-foot orthosis on my left leg and, because of my protuberant abdomen and also for back support, a corset-style lumbar orthosis, both of which I have continued to wear to this day. Over the years, my left leg has often unexpectedly buckled while simply walking, putting on my pants, stepping on something, etc. I am therefore constantly apprehensive about falling due to this condition, because it is impossible for me to rise unaided to a standing position.
For many years, whenever various physicians inquired about my condition, I told them that I had polio. They never questioned my response, stating that my condition presented me as a polio survivor.
In the 1980s, I joined a polio survivors group in which we shared our individual and mutual experiences. It was interesting to hear of member’s stories as to how they were faring, when and where they contracted polio, and so forth. Of particular interest was a survivor who contracted polio while serving with the military in the South Pacific in the mid 1950s. Fortunately, none of the members were confined to the dreaded iron lung.
In the early 1990s, after 40-plus years of living with the effects of polio, and because many of the survivors’ strength had progressively diminished over the course of time, the polio affliction was re-named by the medical community as post-polio syndrome.
Mayo Clinic solves the mystery
In 2002, I decided to go to the Mayo Clinic in Rochester, Minnesota, for an evaluation of my condition by physicians in the neurology department. The purpose of this visit was, I hoped, to determine what could be done to minimize the progressive weakness which was occurring, mostly over the prior decade. I underwent two days of extensive testing, including a detailed physical examination, a muscle biopsy in the thigh muscle of my right leg, as well as electromyography (EMG) over numerous muscles. EMG is a diagnostic procedure to assess the health of muscles and the nerve cells that control them, revealing possible nerve and muscle dysfunction.
At the conclusion of testing, I was told that it was not necessary for me to meet with Mayo’s senior polio physician. To my astonishment, I was told that I did not have post-polio syndrome! Rather, based on diagnosis and test results, it was concluded that I was afflicted with muscular dystrophy, specifically, facioscapulohumeral muscular dystrophy (FSHD). They then explained the effects of FSHD, and that it was (typically) acquired genetically.
I discussed with them the fact that, in my opinion, I was not predisposed to acquire this disease genetically since neither my parents, grandparents, six siblings, nor other relatives (aunts, uncles, cousins) suffered from muscular dystrophy. They then suggested that I have genetic testing performed to confirm the FSHD diagnosis. Soon after, I had the testing done and, based on my family history and outcome of the genetic testing, it was determined that the gene that caused the disease was the result of a spontaneous mutation of my genetic sequence.
When my two daughters eventually married and were planning to have a family, and because there is a 50% risk of passing on my FSHD to them, each of them also had genetic testing performed. Thank God that my gene was not passed on to them and they are free of the disease, as are their children.
Looking forward to a cure
In 2009, when I had cataract surgery performed, abnormalities were detected in the retina of my left eye. This is also apparently attributable to FSHD and has caused ongoing (but so far minor) vision problems in this eye.
As the years have gone by I have transitioned from walking un-aided to the use of a cane, and now primarily by means of a three-wheeled walker. I can no longer stand perfectly erect and, when not using my walker, must always hold onto something rigid for balance and my fear of falling. Additionally, the biceps and triceps of my left arm have since atrophied markedly, resulting in limited use of this arm.
I now use a wheelchair when covering relatively long distances, such as shopping malls, amusement parks and other large venues. Because of my difficulty in rising from a seated position, I use a cushion on my wheelchair and also take it with me to restaurants or other places where I must sit on standard-height chairs or in booths.
Over the years, I have undergone numerous medical procedures in an attempt to minimize my muscle weakening and, in recent years, the pain in my lower back. These procedures have included, but are not limited to, stem-cell replacement therapy, acupuncture, lumbar branch-block injections, radiofrequency ablation, and chiropractic manipulation. All have been to no avail, including aquatic exercises and seated tai chi.
My back pain, which has been diagnosed as arthritis, is sometimes intense and especially pronounced when I wake in the mornings. Apparently, the joints stiffen overnight while lying still in bed and are thought to be the result of jogging and/or heavy weight lifting. Recent MRI’s have also shown evidence of a herniated disk.
Over the course of these many years, I have attempted to carefully watch my diet and weight, my life style in general, take a daily regimen of morning and evening vitamins, and have, fortunately, not suffered any broken bones as a result of my many falls. Other than my FSHD, I feel blessed with relatively good health as evidenced by the fact that I have no serious illnesses nor have required any major surgeries. Throughout my ordeal my wife has been exceptionally supportive, attentive, and a more than loving caregiver.
I have tried to not allow the FSHD to adversely affect my quality of life and do not believe that my longevity has been impacted by the disease, as studies have shown that FSHD has little effect on life expectancies. I look forward to the time when medical investigations and studies will lead to a cure for this disease.
Thank you so much for sharing your story.
My uncle was diagnosed with polio when he was a child. Many years later as an adult he was told he has some sort of muscle dystrophy they didn’t know what kind. Then years later as an adult I was diagnosed with FSH after genetic test. He had many of the symptoms I do, scapular winging, unable to raise arms, facial weakness, and lordosis. I am sure he had FSH I don’t know why i am the only other person in family with it. He had no children and was my maternal uncle. My mother had 3 children I was o no ly one with it.
Hi Susan! FSHD is very variable. If your uncle and you have FSHD confirmed by genetic testing, I’m sure your mother has it as well, did she get tested? My story is the same as yours, I have symptoms, my mother almost nothing, but my uncle does. Also, my mother’s cousin, which means my grandfather and his brother are affected too.
What an incredible story! I imagine your surprise when you were told you never had polio! I’m glad you have a healthy family and a suportive and loving wife who helps you to carry on. Thanks for sharing this, regards from Chile!