Another short entry this week (the editing gremlins haven’t totally won yet, but it’s close), this time about the natural history study happening in Europe.
“The International XLH Registry: first interim analysis” just establishes baseline data about its almost-600 participants (half of what they hope to eventually include eventually), so there’s nothing terribly surprising (to patients) in the article. But don’t ignore it! This is important work, essentially translating the basic information that patients know (and experience) into data that scientists can work with.
The basic findings are: 1. XLHers are short, 2. those of us born before about 1970, tended to have particularly long paths to diagnosis, 3. we have a lot of bone symptoms, and 4. the various symptoms are progressive.
Yeah, no kidding. But remember, it’s important to document these issues. Saying we’re “short” is meaningless without data to establish what “short” means in contrast with age/gender-specific norms. And that’s what this study does, establishing a consistent pattern of XLHers being significantly shorter than those norms. Same for documenting what “a lot of bone symptoms,” etc. means.
Three things I found interesting (some good, some not-so-good):
- They included 15 patients with non-PHEX mutations! In other words, they included autosomal hypophosphatemia patients, not just x-linked patients. I don’t think it was intentional, but I wish it were. It’s an example of how we can learn more by being more inclusive in the criteria, while still having a way to track any differences between subgroups! I’m not sure whether they intend to continue collecting data on the autosomal subgroup (the statement on excluding them for future analysis is unclear — will they collect the data, but just not show it in the charts?), but at least this is a start toward more inclusivity, which might reveal something important that no one would know without that data.
- About two-thirds of the participants are female, which accords with the expectation, based on the transmission pattern, that two-thirds of XLHers are likely to be female. Still, it’s a bit surprising that they found that many male participants, since in my experience, on average, men in our community are less engaged then women. (Yes, I know there are exceptions, outstanding ones, like present and past organization board members and trustees, but they have always stood out as exceptions from the norm that more of the engaged patients, active on social media and willing to participate in surveys, are women.)
- Finally, in less good news, don’t get me started on how relatively few kids in the registry are on state-of-the-art treatment (slightly over half), or how heartbreakingly few adults (5%) were on state-of-the-art treatment.
And that’s all for now. Back to editing. I swear, this book will be ready for my beta reader by the end of the coming weekend! Just thirty pages left to edit!
Oh, wait, I almost forgot — it’s International XLH Awareness month, with a focus on the importance of patient advocacy groups. The International XLH Alliance has a frame to show your support on Facebook or Instagram — just DM the Alliance on either platform with your profile picture, and they’ll add the frame and return it to you. Or just follow their accounts and enjoy the stories they’re sharing from patients/caregivers.
***
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.