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Unless you actually have a metabolic bone disorder like hypophosphataemic rickets, you don’t really know how it feels. Even if every member of your family has this syndrome, and so you experience the effects by proxy, you still can’t feel it “in your bones”. But if you’re the odd one out trying to understand how your family members feel, you can still be an important help-mate, and that’s what this article is about. I want to describe how, within my family I have been coping with the chronic condition that affects us all.
The treatment for this particular kind of vitamin D resistant rickets (actually a historical misnomer, because many people affected by what is now called X linked hypophosphataemic rickets do, in fact, respond well to the active metabolite calcitriol, though processing of the native form, calciferol, is poorly regulated; another form of genetic rickets, involving the vitamin D receptor, is truly D resistant) has been pretty consistent over the past two decades. A combination of oral phosphate and capsules of calcitriol form the approach that seeks to balance or redress the levels of inorganic phosphorus, calcium, parathyroid hormone, and alkaline phosphatase. Because this management regimen often manages to achieve near normal blood chemistries, the epiphyseal fraying of patients’ bones associated with rickets often heals and over time their bowed or twisted lower legs may …