I’m probably the last person to be writing about this because I don’t claim to be an authority on any particular condition — except perhaps hemochromatosis and the searing reflux suffered when I’ve devoured too much chocolate at bedtime! I have, however, embarked on the study in order to try and help a very dear friend (like me a South African expat now living in Canada) understand how and why she came to have this awful condition. I have decided to do this in two ways: first, as a physician would, I’ll try to construct a case history of all that has befallen her since she was a child. Then I’m going onto the Internet to see what I can find there.
Background and Case History
Evidently she was a very healthy, active child. She tells me that her father, a Latin scholar, had a nickname for her which meant “Happiness” or “Happy.” Her sister, who was 10 years older than she was, would tease her active little sibling, scoffing that this moniker was rather deserved because, like Felix the Cat in the cartoons of the day, she ‘kept on walking!’ which, from all accounts, was a gross understatement. She would always rather run than walk!
Their father died when my friend was six, and her sister, who was really a very loving and caring person, became the chief breadwinner but was not always able to have the young one with her. At one stage in her life, the child, then 11 years old, was left to stay with an aged friend of the family in a little town called Aberdeen, in the dry Karroo area of South Africa, where she was lonely enough to join almost every Sunday School in the place so that she would be entitled to attend picnics — where she would inevitably end up with numerous boxes of handkerchiefs, won for sprinting!
Eighteen months later, after joining her sister in Cape Town, she was enrolled at a good school, where she was an enthusiastic gymnast excelling in “vaulting the horse,” rope-climbing, and running, until one day, about three months later, she began to hobble, and an observant teacher noticed that her young student’s left knee was grossly swollen. A doctor who examined her recommended three months of bed rest, at the end of which she returned to school; but she was hardly there when the other knee began to swell. Other disquieting symptoms prompted the doctor to refer her to an eminent specialist at the famous Groote Schuur Hospital.
Because it was suspected that his patient was suffering from some sort of rheumatic ailment, which might damage her heart if she exerted herself, he recommended that she spend most of the rest of the year in bed, to leave home only when it was time for a follow-up appointment. At the end of that time she was back at the hospital to be fitted for calipers, which fortunately were a restriction that did not have to last too long, although she was not permitted to participate in sport.
It was not until some years later, when her daughter was three, that, lifting the child down from the steps of a bus, her back “seized” and her husband had to be summoned to take the two of them home. Another six weeks of bed rest ensued.
“Exaggerated Lumbar Lordosis”
This became the regular pattern of her life until one day at work when her back again acted up and this time, screaming in agony, she had to be taken to a private clinic where she was fortunate to be examined by probably the foremost orthopaedic surgeon in the county. Her medical reports make mention of “exaggerated lumbar lordosis” (a term used to describe an inward curvature of a portion of the vertebral column.)
From Wikipedia: “Two segments of the vertebral column, namely cervical and lumbar, are normally lordotic; that is, they are set in a curve that has its convexity interiorly (in the front) or posteriorly (behind), in the context of human anatomy. Curvature in the opposite direction is termed kyphosis. Excessive or hyperlordosis is commonly referred to as swayback or saddle back.”
Finally A Diagnosis Of That Particular Problem: Spondylolisthesis
This can be described as the anterior displacement of a vertebra or the vertebral column in relation to the vertebrae below, and in her case it was considered to be due to a congenital birth defect. The best remedy, she was told, would be a surgical operation known as an anterior spinal fusion. Although the problem was in her back, the surgeon would go in from the front, make the incision from her chest bone almost down to the pubic bones, remove her insides, and drill into her hipbone in order to obtain the necessary “dowels” for grafting into the spine. After that she would be flat on her back in a body cast for three months, and then have to wear a steel brace for a year. With the help of a caring husband and daughter, and despite bouts of frantic claustrophobia, she somehow made it though that and was warned never to pick up anything heavier than 15lbs. She would find this to be a sore deprivation when, in time, she was blessed to have grandchildren.
Searching the Internet
When I first began to check this out on the Internet I was disappointed to find very little that was helpful except that it was considered “a rare disorder.” Under a heading of Camptocormia, there was a photo of a Japanese lady bending forward, and information to the effect that even just resting her hands on something was enough to help her stand upright. The abstract started by informing us that axial myopathy (AM) is a rare neuromuscular disorder in which involvement of the spinal muscles manifested a bent spine and/or drooping head as leading clinical features. The disease was described as being “slowly progressive.” Then followed mention of EMGs and a “muscle biopsy specimen.”
“Kyphosis”: What On Earth Could That Be?
I was not ready to give up, and, after hours and hours of further searching I read that axial myopathy “is an associated sign of several neurological disorders and vertebral degeneration diseases; a rare neuromuscular disorder which causes a bent spine and/or drooping head as leading clinical features.” But then came this: Experts have concluded that it may be much more common than previously thought, because gradual progression of cervical kyphosis — which the Mayo Clinic defines as a forward rounding of the vertebrae in one’s thoracic spine, and Wikipedia describes as ‘hunchback’— may unfortunately often just be accepted as a feature of normal aging. The first symptoms seem to be difficulty in keeping the trunk and head in an upright position. Tests had shown the disease to be slowly progressive.
My friend’s history, after immigration to Canada, seems to have been normal enough, except for an unfortunate incident which occurred while she was planting flowers in a flowerbox on her deck and accidentally pricked her hand with the garden scissors, was infected with a fungus, thus contracting a persistent cryptococcus informants infection. Most infections with this organism are asymptomatic; however, after penetration of the fungus, pulmonary, skin, or central nervous system, disease may occur. Cases of myositis usually occur in the setting of “disseminated cryptococcal disease” but focal infections within the muscle have been reported and this was apparently what happened to her. Some cases, I have since learned, have, in addition, involved cellulitis and necrotizing fasciitis (“flesh-eating disease) in addition to myositis, and she was fortunate in that an alert hospitalist in her local hospital spotted the onset of this and took the right steps to fight it.
Starting To “Lean”
One day, while carrying a heavy load of groceries across the parking lot of a large supermarket, it just became too heavy for her, with a suddenness that pulled her so far forward that the shopping bag scraped along the paved lot and had to be dragged to where her car was parked.
Very soon it became difficult to walk up upright. She was shocked to see evidence of it in a photograph taken a few months later. A physician friend rebuked her for her poor stance and would not accept her protestations that she could not help it; that she could no longer raise her arms sufficiently to put plates away on a shelf or hang up her clothes. She seemed able to cope better when her hands hung down, but the moment she made an attempted to raise them she would start to fall forward. It was as though they had become too heavy for her spine to support.
Could Earlier Diagnosis or Intervention Have Helped?
No one will ever know, I guess, but the support of a more caring doctor would have been welcome. Hers, unfortunately, was not! He soon became impatient; finally stalking out of his office one day while declaring, “I haven’t got time to listen to this!”
It was through a receptionist friend, after a long period of wallowing alone in her misery, that she was finally accepted into another practice by a doctor whom she has long since put on a pedestal; one who cares enough to have made it possible, over a period of two years, for her to have been been tested by four of the leading specialists on the Lower Mainland of Vancouver.
At the commencement of each visit to a new physician, she has completed a questionnaire, carefully noting every sickness she has ever endured, and without fail, in every case, the diagnosis has come back marked thus: Polymyositis? The last expert in the queue strongly recommended a visit to a renowned, but very busy authority, for a muscle biopsy.
When she was granted an appointment (a year later!) she was subjected to yet another EMG, and, without having to undergo the biopsy, a pronouncement was made, and she heard, for the first time, the term “axial myopathy.” Three months later she was surprised when the physician (perhaps not satisfied with her diagnosis) called her back for another examination. So inured to the painful jabs was my friend by this time that she hardly winced, and only vented her discomfort with wisecracks about no longer drinking too much water, in case she sprayed her whole apartment with it through the holes in her skin.
She was also confronted with a shocking fact — with the aid of electromyography, electrical activity can be observed while inserting the electrode, and unaware that muscle tissue at rest is normally electrically inactive, she was greatly relieved by the loud “atmospherics” emanating from the equipment. It was a shock to learn that this was not good news — that what she was hearing was the sound of dying muscles!
Which Came First? The Chicken Or The Egg?
Now she has difficulty raising her arms over her head, rising from a sitting position, or climbing stairs; her voice is sometimes affected through weakness of the throat muscles; she cannot fasten a button; and only well-monitored doses of Prednisone prevent her from falling over when without her stick. We have been reading about a possible connection between the disease and fungi.
Was her affliction inevitable — determined long before she was born with that congenital birth defect? Alternatively, what might perhaps have been revealed by a muscle biopsy?