I’ve written before about how some in the medical community apparently think that adults with XLH aren’t suffering enough to justify the cost of the only effective treatment available. Now, there’s another strike against us: adults aren’t cute enough to be worth treating.
In the world of philanthropy and fundraising, it’s generally well-known that seeing suffering kids will generate more donation than the suffering of adults. That’s why you’ll generally see fundraising ads featuring starving kids, rather than their starving parents. I respond to that kind of appeal, you respond to it, we all respond to it.
Fundraising for rare diseases is no exception. As someone who helped with fundraising when I was on the board of the XLH Network, I had to accept that reality and use it for the benefit of the community. But it’s always an uncomfortable reality, because we focus on the cute kids so much, and then those kids become adults, and all of a sudden they/we become invisible.
A couple years ago, a fellow patient-advocate (she knows who she is!) got me to thinking about the challenges of advocating for adult patients, which I hadn’t thought about much before that. The pediatric disorders (or the pediatric manifestations of whole-life disorders) get all of the attention (and treatment), while the adults get left behind. It hadn’t really been on my radar, because of course we all want kids (and future adults) to have the very best lives, and we know that early intervention is makes a big difference. It feels a little selfish to say, “But I need help too.”
But we do indeed need and deserve help. The medical community needs to understand that we don’t miraculously stop needing phosphorus when our bones finish growing. The chronic hypophosphatemias are whole-body, whole-life, whole-family disorders, and just treating the pediatric symptoms will never be enough.
I’ve heard one XLH researcher say that the pediatric version of XLH and the adult version of XLH are almost two different disorders. The kids have primarily growth-related issues (along with pain and fatigue), while adults have primarily joint/calcification issues (along with pain and fatigue).
I wonder if that would be useful messaging, since 1) the medical community is divided between pediatric specialists and adult specialists; and 2) the medical community doesn’t seem to be truly comprehending the clear evidence that chronic hypophosphatemia is a life-long problem. Perhaps we need a campaign that focuses on “It’s not just for kids anymore,” and then talk about how the adult manifestation will occur even after good pediatric treatment, and is very different from the pediatric challenges. That way, it might be more immediately obvious to clinicians that closed growth plates on straight bones are not an indication that the patient is done with treatment, but instead is an indication that the patient is moving on to a different phase of the disorder, with (partially) different symptoms that are nevertheless potentially severely disabling.
I’m trying to think of another disorder that works like that, where a subset of the symptoms (the purely pediatric ones) can be successfully resolved, while a new subset then comes to the fore in early adulthood. I can’t think of any examples, but given that there are more than seven thousand rare disorders, there must be some. If anyone knows of a good example, please let me know!
In some ways, the adult versions of chronic hypophosphatemia has more in common with disorders that only manifest in adulthood, than they have with other disorders that first manifest in childhood. For instance, many of the debilitating symptoms of XLH are also found in ankylosing spondylitis (an adult-onset disorder). Unfortunately, that’s not a good comparison for messaging, because AS is poorly understood and has no effective treatment, so we can’t make the argument that if AS patients deserve treatment, then surely chronic hypophosphatemia patients with the same symptoms deserve treatment.
I’m just thinking out loud here, looking for a different approach that might finally break through the resistance of the medical community to thinking about chronic hypophosphatemia as a lifelong disorder. After all, for most of the chronic hypophosphatemias (other than GACI, with its high pediatric mortality rate), there are far more adults with the disorders than there are kids. But once we turn 18 or 20 or 24 or whatever age they’ve decided is the end of bone growth, we become invisible, and it’s like health providers are surprised that we exist.
I worry that even if we come up with new messaging that reminds the medical community that we adults exist and need treatment, there’s still a huge barrier to access, something we can’t really change: we just aren’t cute any longer. We can be informed and loud though, so I guess that’s a good thing.
For now, I don’t have answers, just the impression that we really need to up our messaging game, or else chronically hypophosphatemic adults will continue to be overlooked and denied access to life-changing treatment.
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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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