Case History #2
Clinical Form -- Childhood Hypophosphatasia -- diagnosed after 6 months of age during childhood.
Toronto General Hospital -- 1946 premature female at 7 1/2 months, weighing 2 lbs. -- disliked milk so was on special formula -- had no appetite so had to be spoon fed until 5 years old.
Toronto Hospital for Sick Children -- specialists recommended Dr. Donald Fraser (endocrinologist) at the University of Toronto who diagnosed child with hypophosphatasia at age 2 -- she wasn't walking well and was anemic -- she frequently asked to be carried -- she had knock-knees with feet facing outward -- her hands and feet were cold and she suffered every night with leg pains -- Dr. Fraser did blood tests and a 24 hour urine test -- an orthopedic surgeon suggested special shoes to straighten her legs. Dr. Fraser tested her once or twice a year until she reached 16 yrs (1962). By this time, her legs had straightened.
She married at age 21 (1967) and had two healthy daughters. She became employed in 1979 but after three months she lost her balance and fell on her left knee. The femur was broken right across and a fracture was on the top of the hip joint. Her operation consisted of metal bracing with screws.
In 1986, the screws loosened causing much pain resulting in the brace being removed. She walked on crutches after each operation. In 1985, she managed to walk with two then one cane. She worked as a desk clerk for 10 months but the getting up and down from a chair caused a fracture of the left front pelvis. She was in a wheelchair off and on, still cooking, washing clothes, etc. but by the end of 1986 she was in the wheelchair all the time.
In 1986, her right leg started to hurt and by 1987, the pain was progressively becoming worse. From 1984 to 1988 her left femur kept trying to re-break -- she was in constant pain. She was sent to the Glenrose Rehabilitation Hospital, near Edmonton, Alberta. After 2 months of traditional exercise and water therapy, she complained of the pain getting worse. After x-rays, all exercise was stopped and it was decided to operate on the left femur with an internal nailing as the left femur had fractured 2/3 across. The operation took place at the University of Alberta Hospital in Edmonton. While the staff was lifting her from the bed to the operating table, someone dropped her right leg and it totally broke. She came out of the anaesthesia with her left leg operated on and the right leg in traction. After recovery, a blood clot broke loose and collapsed the lower lobe of the right lung. She was in intensive care for three days. The doctors waited about 7 days, then operated on the right femur putting a nail in the femur. In 1989 the nail had to be taken out as the nail near the knee was coming out of the bone.
While using a walker and wheelchair, her right arm started to fracture due to stress on her arms -- she then started using an electric wheelchair and an electric bed. In 1996, she felt her left leg trying to break again so in 1997 (the old screw holes having filled in) the doctor replaced the screw in the hip with a nail and the femur was reset with a new internal nail.
As well as the fractured femurs, she has had fractured hips, pelvis, ribs, upper arms, elbows, one wrist and vertebrae. For bone pain, she has taken morphine and Tylenol #3.
