|Osteogenesis Imperfecta - LIVING WITH BRITTLE BONES -
Audrey Ekdahl Davidson
This will be a chapter in which I discuss medical history. It will be of especial interest to persons with orthopedic or other mobility problems, and will include some information that of necessity will overlap with episodes in the narrative that I will tell later in this book.
My bone disease, Osteogenesis Imperfecta (OI), has been the subject of study for more than two hundred years, at least since Olaus Jacob Ekmann treated the subject in his doctoral dissertation, which he defended in 1788. Though in my case it was inherited through an ancestor from Svenstorp in Skåne, it is not a disease that is associated with any particular country or even continent. The disease was long known to have different symptoms and different levels of severity, and in the 1970s the Australian researcher D. O. Sillence developed the four categories that still are used today to describe these. The distinctions are, however, somewhat murky, but it seems clear that I have Type I. Type I is typically characterized by fragile bones, blue sclera, and sometimes hearing loss. In my case, I was born with blue sclera and still have this symptom to a degree, while others lack this characteristic. My hearing was in fact extremely acute until my late fifties. In a hearing test many years ago I was told that I could hear what few people could hear - a range that might allow me to hear some dog whistles. I always suffered from fragile bones, having more than three dozen fractures in my lifetime. Others with Type I OI have only moderately fragile bones. Types II-IV are more severe and are likely to cause one to have a much more shortened life-span, in the case of Type II indeed very little chance of survival at all, assuming that the mother’s pregnancy had not already resulted in a stillbirth. In all, there are perhaps 30,000 to 50,000 persons living with OI in the United States today, according to the Osteogenesis Imperfecta Foundation.
Because I can trace my disease back beyond two previous generations, I believe it will be useful to examine what I am able to remember or glean from others about each family member who was afflicted to a greater or lesser extent with the disease. As a disease which is autosomal dominant, approximately half of the children of parents who are carriers will be born with it. Its cause is an inheritable dominant altered gene that either programs cells to create a defective collagen protein or does not do its work in telling them to make it in sufficient quantity. The latter is the case with Type I osteogenesis imperfecta, for only about half the normal amount of type 1 procollagen may be found to be produced. Collagen may roughly be described as the necessary binding agent in bones. It is a protein, the principal fibrous agent of bone, tendons, etc. Scientists explain that it is the longest protein, made up of a triple helix that measures 3,000 Ångstroms in length and fifteen in breadth. In recent research the defective gene has been identified and the point of the mutation located in the COL1A1 (Collagen, type 1, alpha 1) or COL1A2 (Collagen, type 1, alpha 2) gene, which on account of the damage to it is non-functioning. None of this was of course known to my doctors when I was younger since genetic research has essentially blossomed only in recent years.
The mutation that caused the gene to be defective must have existed in the family prior to my grandparents’ generation since my great aunt Paula (Pernella) was affected by the disease, as noted above. My grandmother is therefore implicated as a carrier since, like her sister Paula, she was descended from Lewis Stephenson (b. 1819) and Hannah Person Stephenson (b. 1818) of Svenstorp in Skåne. Of course, if my great-grandmother was a carrier of the mutated gene, though she was reported to have been in good health at age 87 in a county history that was locally published in 1903, it seems plausible that the disease may be traced back even further to her parents, Per Person (b. 1787) and Anna Person (b. 1788). Her mother, Anna Person, is reported to have been born at Diyvik, a village that I have not been able to trace in any Swedish atlas but is located most likely, like Svenstorp, in Skåne.
Since Paula died before my time, I did not know her, nor do I have as much information as I would like about her. She was severely disabled and used a wheelchair. However, in those days of horse and buggy travel she often had to be carried about. Yet she nevertheless was able to work as a midwife. She would be lifted into the bed of the expectant woman, whereupon she would do her midwifery tasks to bring the infant through the process of birthing. This suggests that her upper-body strength was very adequate, while it is most likely that her legs had sustained multiple fractures or at least some that had not healed properly, given the state of nineteenth-century medicine. Her ability to overcome her disability seems to have made her admired in the family for her determination as well as her skill.
It is interesting and rather sad that seventy-five percent, or three out of four, of Ole and Anna Ekdahl’s children were afflicted to some degree with OI. While the eldest, Mathilda, seems to have been spared, my uncle Lewis, my aunt Annie, and, to a far lesser degree, my father Harry were all affected. Uncle Lew, who like my father had been educated at the Willmar Seminary, was remarkably successful in spite of his disease and was the stable center of the family as long as he lived. He shared his home with his sister Annie’s family, and I shall return later to his crucial role in helping to support my parents’ family during difficult times. His disease did not prevent him from being content with his life, and I remember that he always had a small, secret smile or chuckle. He was very small of stature, under four feet in height, with many signs that he had suffered from fractures in earlier life. He had a distended thorax and bowed legs, and he walked with some difficulty with a cane. He had the controls of his automobile modified and fitted the seat with a “cooshun” so that he could see over the dashboard. I loved to ride with him in his car, even if it was only to run errands or pay bills. In those days, we would pay bills in person rather than by check through the mail. Sometimes the bills that he would pay undoubtedly would be for my family, since by then we were the poor relations.
Uncle Lew never married, and parlayed his income and his inheritance into a substantial holding of property in Willmar. Officially his occupation was as a bookkeeper (nowadays he would be called an accountant) for the Great Northern Railway, but he was clever with money in a way that he was able to be charitable and accumulate wealth at the same time. His devotion to church and family was phenomenal. I have previously mentioned his excellent tenor voice. At his death he was seventy-eight years of age. The only sibling without OI, Mathilda suffered from a mood disorder (post-partum depression) requiring hospitalization. She had married Per (Peter) Parson, the proprietor of a blacksmith shop, an essential business for the local economy in the days when horses required horseshoes. The shop also was important for the farmers in the area since farm machinery frequently needed to be welded as a way of providing quick repairs in the middle of harvest or of other agricultural processes. Per was respected as a very caring man who, his relatives in Sweden told me, had left the Old Country because he did not want to serve in the Swedish army. Mathilda had three children, Martha Nyquist, Agnes Parson, and Latimer Parson, who inherited the shop, at which he eventually just specialized in welding. None of Mathilda’s children had OI, nor did her grandchildren or great grandchildren have the disease.
My aunt Annie was the most seriously affected of the Ekdahl children by OI, which caused her to be more hampered with regard to her mobility than uncle Lew. She married Ed Hanson, a steamfitter and, for a time, a foreman for the Great Northern Railroad who either devised or adapted a wheelchair for her, though when she was younger she was able to walk about the house. She was bright, clever, and musical. I enjoyed very much spending time with her, especially too because she had a piano in the house. I discussed Greek mythology with her and mistakenly thought that she had given her daughter the unlikely name of Persius Arloueen. Persius was, of course, the man who decapitated Medusa, placed her head in a wallet, and unveiled it against enemies, some of whom were turned to stone to become the Atlas mountains. However, Arloueen’s name was instead Persis from the Bible, for St. Paul mentions “the beloved Persis” in Romans 16:2. I thought (incorrectly) that naming her daughter after the destroyer Persius must have been intended to guard against the demon OI, and if this had been true it would have given the appearance of working, though in this instance I must have had a flight of fancy. Arloueen was free from the disease and would grow up to be a tall, attractive, energetic woman. Her fear of passing on the disease that afflicted her mother, however, influenced her in choosing not to have children of her own.
Annie’s role in life was as a music teacher who taught piano at home. It was a time when talented and less talented youngsters were channeled to study piano, and, like other teachers, she had her share of both types under her tutelage. Her death at fifty-two, resulting from a severe attack of asthma, was a shock to us all. Though taller than uncle Lew, she nevertheless had a constricted rib cage, which would appear to have contributed to her death.
In contrast to Arloueen, her brother LeRoy, whom we always called “Boy,” did possess the mutation that caused OI. He was taller than uncle Lew but still very short, a little shorter than I was at that time, before I suffered height loss in older age. His bones were very fragile, and hence he had many fractures in early life. His chest was distorted, and his legs were extremely weak. Later, I remember seeing him only once when he had a broken leg, following, as I recall, slipping and taking a tumble. The wood floors in the house where he lived were always, it seemed to me, much too heavily waxed. Boy’s arms, however, were strong, and he always used crutches when he walked. None of this deterred him from working around the house on Second Street or in his garden. As one who admired the take-charge ethos that he saw in business, he could be quite forceful. He felt, on account of his height and his disability, that he needed to be stern if his voice was to be respected. I recall an incident at church when my mother had permissively allowed me to run around or otherwise misbehave during a service. Boy pressed me down in the pew with his finger and ordered me to behave. It was a lesson I never forgot. For many years Boy worked at The West Central Minnesota Tribune in Willmar. When Lew died in the early 1950s LeRoy inherited considerable money and the house on Second Street which my uncle had shared with his family. He resigned from the newspaper but unwisely invested his money heavily in a turkey farm, which was a disaster since in the first instance the turkeys were improperly caged and many smothered, and then there was a fire that pretty much, as they say, “wiped him out.” He had invested some of the money that Lew had left to me in this venture, and for a time I held a promissory note for the amount of $1500. My husband and I were desperately poor at this time, but we did, I believe, the honorable thing in destroying the note. Boy did not seek further outside employment and thereafter devoted himself to managing his household affairs, which involved a parental role for many years with the student nurses who were being trained at Rice Hospital and who rented rooms from him. Further, he put his accounting skills to work as treasurer of the First Baptist Church. He had never married, but maintained a long platonic friendship with a family friend. In 1978, at sixty-five years of age, he died of a heart attack. It is impossible to say whether his bone disease was implicated in the heart attack, but the constriction of his chest and other factors related to OI such as enforced lack of adequate exercise are known to contribute to heart disease. His sister Arloueen, who rose to be a mid-level executive at the Munsingwear corporation, was of great assistance to Boy in later years. She married a pharmacist, Everett Nyman, and, as noted above, did not have any children. To her disappointment, she and her husband were also not able to adopt children, though today it would be hard to imagine a couple who would make better parents.
My father Harry had not at first shown overt signs of OI, but these developed as time went on. Unfortunately, they appeared along with symptoms of bi-polar disease which first afflicted him after World War I, some say as the result of the strain of overwork for the railroad as part of the war effort. In the 1920s he was working for the Peterson brothers’ furniture store when he fell from a wagon loaded with their wares. Because his broken leg did not heal, he was referred to the great orthopedic specialist Dr. Carl Chatterton, whose main affiliation was with the Children’s Hospital in St. Paul. There would, however, be no magic cure, and with further broken bones, shortened stature, and a distended thorax it was clear that he was not free from the disease. At the end of his life he descended into a deep depression and, fearing the return of the other side of his bi-polar illness, confined himself to bed at home for the final decade of his life; by then his orthopedic problems were very serious. Barely able to walk, he hobbled about only when necessary. He even took his meals in bed. However, these illnesses were not lethal, and he lived to be eighty-one years of age. I am angry, however, that the medication, lithium, that would have helped him had been developed by the army in the 1940s but was, for a reason that I cannot fathom, kept secret until for my father it was too late. Harry was a wonderful father when he was in a stable mental state. I loved it when he would take me to see a ball game, for example. Then he sang in the church choir and was fun to be around. He would read to me such works of literature as the writings of Rudyard Kipling or Longfellow’s Hiawatha. I will never forget his rendition of Longfellow’s “Excelsior,” a poem about a young man who, striving ever upward to the heights in the Alps, always cries “Excelsior!” and carries a banner with this word on it. The ending - a St. Bernard dog, apparently from the Grand Chartreuse, finds him frozen in the snow - invokes heroic failure, for he still grasps the banner in his frozen hand.
And from the sky, serene and far,
Father’s great hero was Theodore Roosevelt, who had overcome physical weakness to become eventually a strong - and reforming - President.
It was in the 1930s that he became a fast friend of Dr. Chatterton, and this was to have real importance for me later when I required surgery to strengthen and straighten my right femur. They went hunting together in northern Minnesota, which as yet did not have the incredibly heavy influx of tourists that one finds today. Going into the north woods was also a good treatment for my father’s asthma, and there were times that he went yet further north into Canada to avoid the aerial substances that caused his allergic reactions. Though Annie too had asthma, which as noted above even proved fatal to her, a connection between it and OI is extremely unlikely. I have allergies too, and have had episodes of respiratory congestion that were diagnosed as asthma in later life.
Two of my sisters had no symptoms of OI, and of these only Lorraine had children - and grandchildren - none of whom have the disease. The third, Lucile, has never admitted that she has an extremely mild case of OI, but the signs are there, particularly her shortened stature which led to her nickname of Tiny. As a potential carrier of the defective gene, she is fortunate that neither her son Douglas nor either of his children have the disease. Tiny, even after some spontaneous vertebra fractures, still is considerably taller than I was when I was at my full height, now reduced on account of fractures in recent years. I always had certain areas where the bone was particularly weak. My right hip was tipped so that the femur, which itself was weak, was bowed, and the hip joint too was a potential source of trouble. The right leg was shorter than the other, and altogether this put extra pressure on the left leg. Unsurprisingly, the right femur sustained the most fractures, beginning when I was six months old - and, because the plaster was taken off too early and replaced with a smaller cast, once again, so until I was about eighteen months old I had lived for many months in plaster. Scandalously, nowadays health professionals uneducated in the nature of OI and law enforcement people sometimes accuse parents of child abuse when a youngster with the disease suffers frequent fractures. In my case my family knew very well what was wrong with my bones and could explain the situation if the doctor or a nurse required educating. OI had been recognized by them from the time of my birth from the blue color of my sclera.
I did not fracture my right femur again until after surgery at fifteen, when Dr. Chatterton corrected the severe bowing in my right leg and inserted a metal plate, attached with screws. I had been fairly mobile up to this point. I recall when my mother had wrapped me up in winter clothes and sent me off to elementary school nine blocks away in -30 degree weather. It was not a rough school. Teachers and the children looked out for me. There was of course no elevator in the building, and when necessary a teacher would carry me up the stairs. I naturally hoped that the operation would make all things well, so there was a bit of disappointment when this did not happen. I still walked with a limp.
The next break took place two weeks before the end of my senior year in high school when I tripped on a curb. I was with my friend Adina Lundquist, the banker’s daughter, following a concert in the Willmar auditorium, a location later to find mention in the radio programs of Garrison Keillor, for Willmar is not far from his mythical Lake Wobegone. Adina ran to her home about a block away, and her brother John picked me up, put me in his car, and took me first to Dr. Proeschel’s house and then to Rice Hospital. This of course interfered with my high school graduation. A story in The West Central Minnesota Tribune reported how “one of Willmar High’s top ranking graduating seniors” received her diploma in “special commencement exercises” in my hospital room, where I was recovering from a fracture due to “an abnormally delicate bone structure.” The fracture had occurred, the story said, “only a few days after she played the French maid role so ably in the senior class play.” Finally, the story said, I “was cheerful in the enthusiastic way that her friends have come to know” in spite of the setback. For setback indeed it was. My physician, Dr. Proeschel, believed the burden of taking care of me to be too much for my mother and hence kept me in the hospital for three months - something that now would be unthinkable. In October I went to visit my sister Lucile in Worthington, Minnesota, where she owned a gift shop and lived with her husband, a radio technician. I was walking along the street and heard something - my femur - go “snap.” After all these months the bone was still not strong, and a spontaneous fracture had occurred. Thoughts of college for the fall had already been put aside, and I would make plans for continuing my education one year later, in 1949 instead of 1948. Even then I would still be on crutches.
While still a pupil in the public schools at Willmar, I had other fractures, however. I was considered too fragile to attend kindergarten, and I believe that it was when I was in the first grade that riding on the back of my tricycle was Marion Ann Franklin, the aunt of Don Franklin, who would, like myself, become a musicologist. The trike tipped over, and she fell on me with a resulting broken shoulder blade. I already, at some earlier date, had sustained a broken collarbone. In 1941 I had made the mistake of kicking a football - a mistake that resulted in a broken ankle. Then, although I had been successfully and carefully treated by a local chiropractor, Dr. Coss, in Willmar when my vertebrae were out of adjustment, my father and uncle Lew made the mistake of taking me to a chiropractor in nearby Paynesville, a town even more directly implicated in Keillor’s Lake Wobegon country, but in this case aptly named since the result for me was even more pain. The chiropractor was clearly at fault, and the result was at least one broken vertebra as well as further distortion of my back and shortening of my height. I never allowed myself to be treated by a chiropractor again.
In 1952 I was walking down the stairs in the music building at college when I somehow seemed to float out over the final two steps. In reality I fell and broke not only my right femur but also my left leg at the ankle. I was treated in the hospital at St. Cloud and sent home, where my mother cared for me once again. Dr. Chatterton’s plate in my femur had held, but recovery was long, and I could not return to college until the fall of 1953, after which, since I was very short of funds, I was forced to drop out to work for a term. My checkered college career, due to orthopedic problems and finances, meant that in 1954 I still had a year left to finish my bachelor’s degree. I married instead, and in the fall went to work for the state of Minnesota in the department of public property, then located in the state capitol where now and then we would see the governor, Orville Freeman. When hurrying to catch a ride to work one morning in the spring, I tripped on an uneven sidewalk and had a ride in a city ambulance to St. John’s Hospital near downtown St. Paul where Dr. Chatterton patched me up one more time. Unfortunately, the force of the fall had bent the plate in my right leg so that it would be a long time before I could walk again, and then for any distance only with the help of crutches and an assisting hand.
The instability of my walking contributed to the next break, which again only affected the femur. My husband had helped me into the house on a cold and snowy night in late November 1958, but in walking across the floor I slipped and fell, again breaking the right femur. This time I purchased a wheelchair, a bargain-basement model from Sears. But, in spite of having front wheels that would break and need replacement now and then, it pulled me through until, some time later, I could afford a better model. It was with the Sears model that I went with my husband to Detroit and enrolled at Wayne State University to complete my bachelor’s degree in music. I immediately continued studying toward my master’s degree, which too was delayed because in August 1962 my husband and I were involved in an auto accident at Duluth while returning to Detroit from Minnesota. In this accident I sustained a broken left leg below the knee and multiple facial injuries. My face had simply crumpled under impact with the dashboard, but my life was saved by the fact that my husband had just installed seat belts, albeit in those days without the shoulder belts that later would be required. I was treated by the orthopedic surgeon and the plastic surgeon in Duluth, then flown back to Detroit, where my leg was found to be healing, so my surgeon, Dr. Campbell White, merely added some screws to hold the bone in place. I still had a broken orbit under my eye, with the expectation that this would end my singing career, for I was then singing professionally in Detroit. However, after I explained the importance of the sinuses to voice production, the fine plastic surgeon at Henry Ford Hospital decided to do a complicated surgery that would restore my sinus and also raise the orbit under my eye so that it would not droop.
A less happy experience was in store for me in 1967, two weeks before the end of the fall semester, when I had the ill luck to be tripped by one of our cats while walking across a room in my house. (The cat, by the way, tried to trip a car a few months later, with dire results for him.) The right femur was again broken. We were by then living and teaching at Western Michigan University in Kalamazoo, Michigan. My orthopedic surgeon was Dr. Maynard Conrad, who put me in a body cast and, several months later, discovered that no substantial healing had taken place. Instead of having the procedure he recommended, I made arrangements to go to Henry Ford Hospital. Campbell White was no longer there, but the surgery was done by Dr. Edwin Guise, who fortuitously was then married to a college friend of my neighbor Betty Anger. By luck a new and more slender rod had just been developed and acquired by the hospital at the time of the surgery, so the femur could be straightened and rodded. Ed joked about “shishkebobbing” the bone. I spent five days in the hospital before I was sent home in a body cast, and then later I was given a new cast that allowed me to be seated. In two months I was able to return to teaching, though on a reduced schedule. When I was able to stand again, I could give up the raised right shoe that an orthopedic shoemaker had made for me in Detroit to give me balance for singing. I still, however, had to use a wheelchair for mobility except for short distances.
The only fracture that I had over the next seventeen years involved a finger that had inadvertently got caught in a car door - a fairly minor incident. However, it is clear that my bones were becoming more porous as I advanced in age. I had inquired about estrogen, but was told that it was not appropriate in my case. In 1985, I was preparing for a rehearsal at my house, where the music ensemble I directed regularly met, when I tripped and sustained a spiral fracture, again in the right femur. This time, on account of the rod in my leg, I did not need to have a plaster cast. The bone would heal, but the break left me less able to do the things that I had been able to do. I now had to use my wheelchair to go out onto the stage to conduct concerts as well as to move about at church, where I directed the music. Fortuitously, we had just then arranged to have a shower re-installed in our house, and this I was able to negotiate. Still, I was able to teach and travel pretty much as before until I was sixty. Then, in March 1991, I had an unexpected and spontaneous fracture of my left hip, which had taken so much wear and tear over the years. My good local orthopedic specialist, Dr. Thompson, had left town, and I was treated by Dr. Thomas Ryan, who decided against surgery. I had a non-union, and naturally had a great deal less energy when in fact I was able to resume some teaching, again on a reduced schedule. The pain became very severe, and hence I was happy in 1994 when Dr. Roby Thompson of the University of Minnesota Medical School offered to do a hip replacement. He found the condition of the bone very problematic, soggy rather than hard as bone should be, but was able to do the replacement, which, though it ultimately did not allow me to walk, reduced the pain.
Unfortunately, my back was also beginning to show signs of further deterioration, and in July of the next year I began having a series of spontaneous vertebra compression fractures. This led to a period of three years when I could not lie down on account of the pain; I slept in my wheelchair, with the result that I had considerable damage to the vascular system in my legs. Despite all our care, I developed swelling and sores, at one point being hospitalized so that I could have a strong dosage of antibiotics intravenously. I would need help going to the commode, and in the hospital there were times at night that the nurses would summon Clifford to help me. We did not trust the nurses or aides to assist. At last we found a recliner that I could be lifted into, and this was a tremendous relief. My legs improved, but even to this day I have slightly swollen feet and red toes. These fractures were very painful, as one might expect, but I was determined to use as little pain medication as possible and whenever possible none at all. Fortunately, a friend who had gone through much pain in her life recommended that I should try the prescription drug Pamelor. This is an anti-depressant that is not much used any longer for depression but, prescribed for pain, allows one better to tolerate it. However, there was a good side to my next fracture that I have described in chapter 1, above, since I could then lie in a hospital bed and sleep reasonably comfortably. However, the frustrating thing was that when this break occurred, I was beginning to get over a vertebra fracture that had kept me from going out, and I had been hopeful that I could again sing in the church choir, if without my former clear tones. Then, with fractures of the right femur and in the shoulder, I could not even hope to go out of the house in summer and had to do battle against the effects of being confined to bed until the fall.
I have mentioned that I have been having a new treatment for my collagen deficiency which at least has stopped bone loss. I heard about this in a most unusual way. I learned about the possibility of advances in medication from a doctor whose wife, Helen Martin Reisz, had gone on a church-sponsored tour of Cuba with Margery Selden, my friend of whom I shall say more in subsequent chapters. Through phone calls first to Dr. Reisz and then to Michigan State University and the University of Michigan, I learned about a clinic in Detroit that had just moved from Henry Ford Hospital to St. John Hospital on the other side of the city. I also discovered that information was available on the web site < maintained by the Osteogenesis Imperfecta Foundation. In 1999 I started receiving a new treatment for OI at the Bone and Mineral Clinic that was presided over by Dr. Henry Bone. Dr. Bone asked, with a name like mine, what else could I do but go into this specialty? I initiated chemotherapy with Pamidronate with Dr. Bone’s assistant, Dr. Joan Pinto. The drug, then costing a thousand dollars a treatment, stopped the rapid bone loss that I had been experiencing, and since I found the trip to Detroit by ambulance van very exhausting, disorienting, and even impossible at times when I was suffering most from vertebrae fractures, my treatment was transferred to a local hematologist, Dr. Heggie, at the West Michigan Cancer Center, and I continued with the drug for five years. Pamidronate, also called by the trade name of Aredia, is now an approved treatment for osteoporosis, and perhaps, seeing an opportunity for the drug company to gouge older folk, this is why the cost of treatment with the drug has escalated by almost thirty percent in 2004. Unfortunately, treatment beyond five years is not recommended.