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By: Larry Winger, Ph.D., PGCE & Scott Schmitz This page represents the accumulated knowledge of five years of listening to stories provided by inquirers who have joined the F-HYPDRR Mailing list for The XLH Network Inc. For families who have a young child with rickets symptoms, the steps to a diagnosis can often seem like a marathon. There are many things that can go wrong with the biochemical systems in the body. It's the specialist's job to measure the different chemical constituents in blood samples, to look carefully at the X-rays that are taken of a child's wrists and legs, and to piece this information together, like a clinical jigsaw puzzle, into a correct diagnosis. These steps can often be accompanied by a great deal of frustration, because parents may have been aware for some time that their child's legs are just not right. But their concerns may have been brushed aside by well-meaning caregivers used to dealing with overanxious parents! We at The XLH Network Inc. are all too familiar with these sorts of stories, though we also have some appreciation of how difficult it is to define normal development. The steps to diagnosis, even when rickets symptoms are recognized by the doctor, carry their own frustration and it can be months of blood tests, re-tests, urine collections, and repeat X-rays and visits to various specialists, before a definitive diagnosis is found. By this time parents may feel they are banging their heads against the wall, and while they may be relieved that treatment can finally begin, may wonder what else is facing them. This is where The XLH Network Inc. can make a difference to parents and their children. We have been through this process, whether our children have a family history of XLH, or whether they are new cases. We know what it feels like to wait for an answer. When a child is diagnosed with XLH, the Internet can be the first place a parent will turn, in an attempt to find out what this disorder will mean to their child and their family. We know what happens during treatment, and we have some idea what to expect, since the members of the F-HYPDRR mailing list for The XLH Network Inc. range from newborn babies to senior citizens. And we hope, when a searching parent finds us, that our support systems will help us all, both to deal with this condition by getting the best possible treatment and information about the disorder, and to continue to learn more about XLH so that a real and lasting therapy can be found. Diagnosis for Medical Professionals Last modified Mar 27, 2011 XLH is also known as X-Linked Hypophosphatemia (sometimes also spelled as hypophosphataemia), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets (VDRR) Rickets and even Genetic Rickets. Its notable characteristics are bowed legs, short stature, poor teeth formation causing spontaneous dental abscesses, and low blood phosphorus levels.
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