Last year, when Network board members had a booth at the Endocrine Society's annual conference, the most frequent statement they heard from passing doctors was "Oh, I don't need to know about XLH because I only treat kids."
The board members jumped up and down, pulled their hair out and dragged the doctors back to the booth (slight exaggeration there; professional demeanors were maintained, despite all temptation to the contrary) to say, "It's not just for kids any more!"
Of course, we know it's never been a kids-only disorder. It's just that the adult symptoms weren't well known before the Network connected patients who could share their experiences and get confirmation that there was a pattern to the symptoms, that they weren't alone in developing calcifications and arthritis much earlier than the general population, or in needing joint replacement well ahead of the usual timeframe. At the same time, a few doctors like Karl Insogna at Yale University, Michael Econs at Indianopolis University and Suzanne Jan deBeur at Johns Hopkins University began treating larger numbers of adult XLH patients and noticing the pattern of adult symptoms.
The problem now is that the facts about adult issues, well known to patients and the few experts, haven't been absorbed by the broader medical community. There's an often-quoted statistic that it takes seventeen years from the time medical research establishes something definitively until the findings from that research are used by the clinicians treating patients, and it wouldn't be surprising to find that it can take even longer for rare diseases.
Even pediatric endocrinologists who treat a lot of XLH kids may know a lot about the childhood issues, but since they don't see the later progression of the condition after the patients leave the practice, they may be unaware of the adult issues. It's often assumed that the successful straightening of legs with childhood treatment will take care of all the problems, but we're seeing now that that is not the case. Patients who were treated after Phos/calcitriol first became available shortly before 1980 are now in their twenties and thirties and are still reporting a recurrence of bone pain and a variety of more significant joint issues than others their age.
Destroying the myth that adults have no symptoms is a major undertaking, but one that the Network will pursue with our community's support. We're confident that someday, board members will go to a medical conference and no longer have to explain, "It's not just for kids any more!"