I’m bumping up against a tight deadline for finishing a manuscript this week, so a really short, partially recycled post today!
One of the biggest problems for the hypophosphatemia community (and all rare communities) is access to specialists who know more about our conditions than a vague recollection of hearing it mentioned twenty years ago in med school or at a conference two years ago. So when you find a specialist who is knowledgeable or willing to read up on the latest research (and listen to you), you hang onto them as long as possible. Sort of like when I told my eighty-year-old dentist he wasn’t allowed to retire.
Unfortunately, they do retire or change careers, and you’ve got no choice but to start over, for either yourself or your child, with yet another fraught search for a specialist. It’s slightly (only slightly) easier to find a pediatric endocrinologist for XLH kids, but hugely challenging for adults. I live in New England, a densely-populated part of the country, that’s known for its world-class hospitals and teaching schools, with LOTS of specialists, and I only know of two endocrinologists who treat XLH adults anywhere within commuting distance, one in Boston, MA, and one in New Haven, CT.
Ideally, the patient community would have a referral database, where the names of patient-vetted specialists could be provided to other patients. (Patient-vetting is critical, because I know of clinicians who hold themselves out as experienced with XLH, but their patients have shared horror stories with me, involving not being believed about adult symptoms.) We don’t have that kind of resource at present though, so patients are very much on their own to find a specialist. I’ve written before with some suggestions about what to do in the absence of a referral from someone you trust, but it’s in a site that’s no longer accessible, so I’m copying the relevant section here:
Check the website of the nearest teaching hospital to you for the expertise of the doctors affiliated with it, especially in the endocrinology department, and ideally someone with an interest in bone metabolism (which includes osteoporosis, a much more common condition than XLH). Specialists at teaching and research hospitals are often the most appropriate medical professionals for diagnosis and treatment given their depth of experience and willingness to take the time to study a relatively rare condition such as XLH. This means that specialists are primarily concentrated in large metropolitan areas in industrialized nations where large research and teaching facilities exist.
One additional source for Endocrinologists is the American Association of Endocrinologists (AACE) web site, which has a physician finder. It’s important to remember that most specialists who know a lot about XLH are endocrinologists, but that most endocrinologists know a lot about diabetes and thyroid disease but very few of them are highly experienced in metabolic bone disorders. Therefore, you would want to search by area of interest, such as “metabolic bone disorders.” Even that is no guarantee the physician will have XLH experience.
Once you do find a specialist, there are things you can do to prepare for the first appointment to improve the chances of making a solid connection with them. I wrote about it here. If you end up making an appointment with someone who is technically qualified to treat you, but may not have much experience with XLH, and they’re willing to learn, you can help point them in the right direction, since there are literally hundreds of articles about XLH published in the last few years. I collected a bunch of medical-journal links here, which you can share with the new clinician. Note that the collection of links is in the context of Social Security Disability, and therefore primarily about adult symptoms, but I tried to cover a wide range of issues in that post. I haven’t collected the pediatric articles (yet) for reasons I don’t have time to go into today.
Finally, I hope that if you have a specialist (endo or ortho or other) that you can recommend, please speak up! A friend is looking for an endocrinologist (for adult patients) in southern Louisiana. If you know of one, please email me! Or if you’re looking for a specialist in the U.S. (I don’t know enough about health care systems in other countries to be helpful elsewhere, and you’d do better to contact the International XLH Alliance to see if they can refer you to a specialist), I’d be happy to ask my contacts and put out a call on my social media. Just let me know what you’re looking for: adult or pediatric, endocrine or orthopedist or something else.
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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