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CHC History
It was first recognized in 1987 that something was not quite right when Margery unexpectedly fell resulting in fractures in wrist and foot and later an acute pain developing at her right femur bone. Many trips to hospitals for x-rays, densitometry and bone biopsies could not locate the problem that was causing her disability. It was not until she had magnetic-resonance imaging (MRI) in 1990 that it was decided that an operation was necessary on her femur bone. The diagnosis was osteomalacia. In 1992, after a similar pain occurred at left femur bone and urine testing at the Toronto Hospital for Sick Children that the discovery was made that she had hypophosphatasia necessitating another operation.
In 1995, after noticing an article in the Reader's Digest mentioning the Lethbridge Society for Rare Disorders (now known as CORD) in Alberta, Canada, she requested from their data base, a computerized listing of rare disorders which included the bone disorder hypophosphatasia. A reference was made to a Dr. Michael Whyte (a researcher of this particular disorder) at the Metabolic Research Unit at the Shriners Hospital for Children in St. Louis, Missouri. After contacting Dr. Whyte, he suggested, for further assistance, that she see Dr. David Cole (a pediatrician who had hypophosphatasia patients) at The Toronto Hospital.
Being connected to the internet, Margery searched for more information and there located two individuals (Del and Carol) in the U.S. seeking help as well. It was during this time that Tracey, also in the U.S., noticed their three names and contacted them. She was very interested as she had just started organizing a support web site in association with The Magic Foundation, a national nonprofit organization created to provide support services for the families of children afflicted with disorders and diseases that affect a child's growth.
--Margery Callen
A remarkable feature of hypophosphatasia is its great range of severity. It seems that no two patients, even affected siblings, are the same.
Michael Whyte, MD
DEBBIE HISTORY CONT.
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