Friday, May 3, 2013

Boneless

About a month ago I had a bone density test. I had been diagnosed with osteoporosis many years ago, a result of treatment with Solu-Medrol for countless MS exacerbations. The IV steroid robs the bones of calcium, so I took Fosamax weekly until the newer annual and semi-annual medications became available. My previous doctor told me my bones were like chalk. When the results of the recent bone scan were sent to my current doctor, they had the word "yikes" scrawled across them... Shortly thereafter, I read an interesting article (HERE, WITH VIDEO) about a 2-year-old girl in Tennessee enrolled in a clinical trial conducted by Dr. Michael P. Whyte, a metabolic bone disease specialist at Washington University School of Medicine in St. Louis. The experimental drug being tested is saving her life. Little Jannelly has the most severe form of hypophosphatasia, a genetic disorder that prevents the skeleton from mineralizing. Babies diagnosed with the disease are usually stillborn or die in infancy because they have no ribs to support their breathing. I was struck by one sentence in the article: "Her bones didn't even show up on X-rays." Wow, what would that look like?, I wondered. As you can see in the image above – which shows minimal ossification of the skull and facial bones in a newborn infant with the severe lethal form of hypophosphatasia – the radiographs can be as haunting as the disease is devastating. I'm happy to report that I have a Prolia shot scheduled for next week.

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