I suspect we’ve all experienced a referral to a supposed expert for treatment of our XLH, only to find out that they’re either the wrong specialty (rheumatology is a common referral, and they can treat the arthritis but generally don’t know how to treat the phosphorus wasting) or they’re the right specialty (endocrinology), but they don’t know anything about bone metabolism disorders other than osteoporosis.
And then there’s the challenge of seeing a clinician for things that are essentially unrelated to XLH, like a primary care provider or a cardiologist. They may not be treating our XLH, but as a whole-body, whole-life, whole-family disorder, the XLH affects everything else in our lives. So, for instance, a cardiologist who sees that we’re overweight may not understand that our weight is affected by the XLH, both due to our mobility restrictions that prevent us from getting much exercise, and some other factor that is known to exist but hasn’t been identified yet.
There’s just so much potential for being harmed by the ignorance of clinicians who are seeing an XLH patient for the first time. Some deal with the limitations of their knowledge quite well, but too many view our odd collections of sometimes counterintitive symptoms as evidence that we’re crazy/stupid, and others view us as case studies instead of human beings. We can’t necessarily change the entire medical profession, or do anything about the close-minded ones who won’t listen to patients, but there are a few things we can do to help the well-intentioned clinicians (and nurses) treat us better.
First, let me say that, yes, it’s unfair that we need to take on this burden of educating the clinicians in addition to shouldering the burdens of having a chronic, progressive disorder. And I’ll probably rant about that in the future, both in real life and here in the blog, but today I’m trying to be positive!
Second, it’s hard to overcome that frustration and exhaustion and PTSD (caused by far too many traumatic experiences with the health care system). And, just as XLH manifests itself in a wide variety of symptoms and severities, our coping tools for dealing with health care challenges may vary a great deal too.
What works for me, and maybe some of it will work for you, is to be prepared for bad experiences, so I’m not taken by surprise.
One possibility is to always make sure you have some chocolate close at hand, since chocolate can be a mood lifter when dealing with stress. Okay, so if we ate chocolate every time we had a bad medical experience, we’d probably all weigh six hundred pounds. And while I’d like to think chocolate fixes everything, sadly, it doesn’t. So here are some other coping tools that for when chocolate fails you:
- Use your phone to maintain a repository of information about XLH (or TIO or autosomal hypophosphatemia) that a clinician might find useful, so then you’ll have it with you for both regularly scheduled appointments and emergencies. There are some dedicated apps for doing this, but I just use a simple note-taking app for Android (Google Keep), which is similar to the Apple Notes app. Alternatively, if you keep your records on paper, then take a picture of the relevant pages every once in a while, so you’ll have them in your phone too.
- Make sure your phone has some recent XLH-related lab work in it, especially if you tend to have numbers that are normal for you, but abnormal for non-XLHers, most notably the dates and results of phosphorus tests, especially if you’re not on burosumab. If you can show them a history of always being at or below normal levels, you can perhaps head off any attempts to give you harmful phosphorus/calcitriol supplements. Ditto for ALP (Akaline phosphatase), which may well be routinely high, but does not signal the usual acute problems in us as it does for the general population. In the opposite direction, where a clinician might expect you to have an abnormal lab result, it can be useful to have evidence of normal results. In particular, it could be useful to have your eGFR (a kidney function test) results to show to clinicians who think XLH involves dysfunctional kidneys, rather than functional kidneys that are just getting bad instructions from other organs.
- If you have a specialist treating your XLH, and that clinician is good, then make sure you have the name and contact information in your phone. Sometimes, even without the clinician contacting the specialist, just knowing you have one is enough to head off problems. If the non-expert is trying to do something that you know is harmful, you can simply say, “My specialist is taking care of that, and has advised me ….”
- Something else you can put in your phone is a link to current information about XLH, in case the clinician won’t believe you with a journal citation, or, in happier circumstances, wants to learn more. Two that I like are 1. For pediatric care, and 2. For adult care, either the patient-written article or, if they won’t listen to patients, then the pediatric article is still good (since it gets into the importance of adult treatment at the end of the article).
- Be prepared, with a script if necessary (memorized or written in your phone app), to ask for special accommodations. Two examples: many adult XLHers can’t extend our arms fully straight, so be prepared to tell the phlebotomist up front, before she practically breaks your arm trying to get it straighter than it can possibly go; and if you have calcifications that would interfere with placement of an IV (I once had a clinician try a dozen times, on the backs of both hands, to insert an IV there, between calcifications, and ended up having to place the IV in my elbow, but not until after the backs of both of my hands were punctured so often they turned black and blue from wrist to knuckle). Other requests may involve range of motion limitations or the inability to safely climb onto a tall, nonadjustable examination table, or needing to sit in a chair that has arms to be able to push yourself up onto your feet. You’re not being “difficult” or “rude” or any other derogatory term by letting the clinician or nurse know in advance about your limitations; you’re helping both yourself and the clinician if you know you have a limitation that will interfere with a procedure.
- If you develop COVID (and I really hope you don’t!), some things to be prepared to tell anyone who’s treating you: First, the clinician should consult with an expert before prescribing phosphorus as either supplements or IV (some COVID patients develop temporary hypophosphatemia, so the clinician may assume your low phosphorus levels are due to COVID instead of XLH). Second, your vitamin D blood levels may be naturally low and shouldn’t be a cause for panic (again, some Covid patients have low blood levels of vitamin D, and it’s been reported as an indicator of bad outcomes, but yours may be naturally low, so this is a lab result you may want in your phone app). And finally, you may need to ask to have an expert do any intubation if you have spinal calcifications that prevent you from tilting your head back.
- Try not to describe XLH as “rickets” (unless you’re speaking on behalf of a child who actually has that symptom). Use of that word will only confuse the clinician and can result in them not taking you seriously. Some better terms are “bone mineralization disorder” (which isn’t as comprehensive as it should be, but is adequate in emergency situations) or “phosphate-wasting disorder that causes osteomalacia and spine/joint calcifications.” Yeah, they’re both a mouthful, so you may want to practice by explaining it to a friend/family member as if they’re hearing about your condition for the first time, until you can rattle the phrase off without even thinking about it.
That’s all I have for now. Is there other information you like to keep on hand for the doubting Thomases in the medical community? Send your suggestions to Gin at GinJones dot com, and I’ll share my favorites in a future post.
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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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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
If you’d prefer to read this blog as a newsletter, sent straight to your inbox, please sign up here.