Later this month (October 23) is XLH Awareness Day internationally. I hope you’re already planning to share the patient perspective article some more, along with whatever other plans you have for helping to raise awareness. Another thing you can do if you use Twitter is check out my new account there, HypophosphaBot, and maybe give it a follow. It will focus exclusively on info and news about chronic hypophosphatemia.
And if you live in England, Wales, or Scotland, it’s vitally important that you go do a survey about the XLH experience there. (If the link doesn’t work, search for the XLH-UK website, and the link is there.) Seriously, this is one of those “speak now or forever hold your peace” situations, an extremely limited opportunity to improve the lives of patients in the future. The reviewing agencies need to know why access to treatment for all patients of all ages is necessary, and they have data, but they don’t have the real story, the one that only patients can tell. Please, please, please do this (if you or your child has XLH and you live in England, Wales, or Scotland). Future access to treatment depends on getting the full story to the reviewing agencies.
And now for something else, a bigger project that’s more U.S.-based (although I think it would be useful internationally), that I’d like you to think about, something I’m just starting to contemplate, and that I’d love to hear what others think of it, with suggestions for how to go about it. It’s a long-term project, as opposed to the quick, one-time actions I usually suggest (like sharing the patient perspective article).
For years, I’ve been advocating for scientists to stop calling XLH “a form of rickets,” and I think, at least with the true experts in the disorder, we’re almost there. We’ll never get it fixed everywhere, and it continues to bug me that the OMIM still calls it hypophosphatemic rickets, but there’s a strong trend in journal articles, at least among the top journals, in the direction of mentioning rickets only as a single symptom among many, not as the fundamental definition of the disorder. For me, seeing “rickets” misused is actually useful (while also irritating), because it’s often a warning sign that the author doesn’t have the necessary experience with patients to be writing about XLH, so I’m unlikely to find anything useful in the article! So it’s time to move on to a new project we can work on together.
There are two possibilities that appeal to me, one for kids and one for adults. The one for kids involves advocating for returning phosphorus to the standard labs for toddlers (one year old and up), which could increase early diagnosis. Couple that with a campaign slogan along the lines of “High Phos, call an endo!” Okay, that’s terrible, which is where y’all come in — reach out if you have a better slogan!
Improving early diagnosis for spontaneous patients is a critical project, but pediatric issues are not really in my area of expertise, and I think, generally speaking, it would be best addressed within the clinician community (it’s something Dr. Suzanne Jan deBeur has long advocated), rather than coming from patients. We could support the clinicians, but I think we’re not best situated to be the primary advocates on this issue.
Adult issues are more within my area of expertise, so the project I’m starting to think about is how we could bring about publication of a guide for the Social Security Administration for reviewing disability applications involving rare bone disorders.
I never knew they even had such things until I saw a link to this booklet about “Selected Heritable Disorders of Connective Tissue and Disability.” What struck me is how much of the preface applies equally to rare bone disorders (including XLH). You could pretty much substitute “rare bone disorder” for “Connective Tissue Disorder” throughout, and the sentences would be accurate!
Take a look for yourself:
Heritable disorders of connective tissue (HDCTs) are a diverse group of many inherited (genetic) disorders and subtypes. Connective tissue is an integral component of all organ systems and plays a crucial role in their function. Hence, the physical and mental impairments associated with HDCTs manifest throughout the body and affect functioning in every body system.
Here’s some more description of HDCTs that will sound familiar and is relevant to disability determinations:
These impairments may develop and vary in severity (wax and wane) throughout an affected individual’s lifetime. The natural history of HDCTs as a general group demonstrates several
commonalities, including their multisystem nature and the impairments they may cause. Nevertheless, the clinical course of individuals with an HDCT is highly variable … The severity of HDCTs cannot be measured by a single genetic or laboratory test. Rather, their severity is determined by the severity of the physical and mental manifestations experienced by affected individuals, which may be measurable with existing clinical and function testing. The impact of HDCTs on functioning results from the combined effects of the multiple impairments with which they are associated in different body systems, which may be severe collectively even if “less severe” individually.
I mean, seriously, doesn’t that sound EXACTLY like a high-level description of XLH and its complicated effect on a given patient’s abilities and disabilities? Our community experiences the same sort of range of severities, and a variety of symptoms, which either individually or in combination may be disabling in some patients. And, from what I’ve heard from Osteogenesis Imperfecta (another rare bone disorder) patients, it’s very much their experience too.
Doing something similar for rare bone disorders would be a brilliant, long-term project (probably five years or so). In an ideal future, XLH patients will have better treatment options and not risk early disability as they age, but unfortunately, many patients won’t get that ideal future, either because of access issues or because the effective treatment came too late for them. In the meantime, patients will be filing for disability benefits, and the Social Security Administration will be reviewing these claims without fully understanding XLH (and other rare bone disorders). Wouldn’t it be great if they had a really solid handbook to refer to, like the one for Connective Tissue Disorders?
I’m still just thinking about what I could do to make it happen. All I know for now is that the report on Connected Tissue Disorders came from the National Academy of Sciences, and it was written at the request of the Social Security Administration. So I’m guessing someone would need to petition the Social Security Administration to request another report for rare bone disorders. And before that, we’d need to get a coalition of rare bone disorder patient groups together to work on it. And experts who have the time to contribute (it looks like Peter Rowe, MD, was a major contributor to the Connective Tissue report). And figure out where the funding would come from. And, and, and.
So what do you think? Is this a worthwhile project? Any ideas for making it happen?
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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.