I try to present a coherent argument when I publish my XLH essays, with a theme and logic and conclusion, sometimes even a call to action.
But I also have some random thoughts about the XLH life, thoughts that are still forming, perhaps going nowhere, but perhaps just waiting for additional insights that would inform a coherent essay. From time to time, I’d like to share them with you as a sort of discussion starter. Maybe you’ll have the additional insights that will bring my fuzzy thoughts into focus!
Today is about imagining a future when XLH is essentially eradicated. We almost have that now, in the sense that a child who is born today, diagnosed early, and receives the current state of the art treatment for life, can potentially live their life without any of the challenges of XLH other than the need for regular injections and routine medical monitoring. Soon, with gene editing, patients won’t even need the injections or monitoring specific to XLH, just an initial treatment in infancy. Either way, future generations (subject to early diagnosis, of course) won’t have the chronic pain/fatigue, the bone deformities, the surgeries, the overwhelming numbers of medical tests and appointments, the dental abscesses, or even the short stature (beyond what might be expected from causes other than XLH).
When that happens, will patients and clinicians forget about the consequences of untreated XLH? That worries me, that we’ll finally get the medical community educated on the true nature and extent of XLH, and then us old geezers will die off and without us as obvious examples of how bad it can be, everyone will forget what our experiences were, because the existing patients have no obvious symptoms. This concern is part of why I worked so hard to get Weak Bones, Strong Wills published, to document the challenges patients had before we finally had an effective treatment. Because if everyone forgets WHY the patients are being treated, it would be easy to slip back into old thought patterns, like “oh, it just makes them short and bow-legged, no big deal, why bother to treat it aggressively in childhood and preventatively in adulthood?”
As an aside (I did say I was having random thoughts, not logical ones), while the biggest benefit of a future when patients no longer have symptoms is that the patients are healthy, it amuses me that a secondary benefit is that those of us who have been shouting “it’s more than rickets” will finally be vindicated. Future patients won’t ever develop rickets (assuming early diagnosis), so clinicians may be left wondering why the disorder is still, in the year 3021, called “hypophosphatemic rickets” when it’s clearly a lifelong endocrine issue, not a pediatric bone disease. (Yeah, this is me feeling cynical about ever getting the medical community to correct the name to a scientifically accurate one, because old habits are incredibly addictive.)
What else will change when patients are diagnosed in their first year of life and then immediately treated with either gene editing or a truly effective treatment like burosumab? What do we, as patient advocates, need to do to make sure the early diagnosis and treatment actually happen in the future? What will it even look like to be a patient advocate in the XLH community when existing patients have no obvious symptoms? How can we prepare for that day? Will your children/grandchildren/great-grandchildren remember what life was like for you as someone with XLH before early, effective treatment was available?
See? More questions than answers. I’m so happy that XLH kids born today at least have the possibility of growing up entirely symptom-free, but I don’t think we, as patient advocates, can just sit back and think everything’s going to be perfect for them. Perhaps it’s my legal training, but I’m always looking for ways things can go wrong, so we can take action to prevent the problems. I’m just not sure yet what hurdles future patients and advocates will encounter.
If you’ve got thoughts on the future of XLH treatment, the XLH lived experience, or the role of XLH patient advocates, please drop me a note (Gin at GinJones dot com), to help me form a more coherent essay on the topic next time I address it!
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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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