Rare Disease Day (February 28th this year) has been around for fourteen years if I did the math right (since 2008). I’ve been involved in various ways since around 2014, and I have to admit, some of the early excitement had begun to fade for me.
But this month, I’m making a conscious effort to get over my jaded self. There are two big challenges confronting the chronic hypophosphatemia community, and they’re time-sensitive, so we need stakeholder engagement now more than ever, or risk being left behind as medical science passes us by.
So what are those two time-sensitive challenges? One is a current problem and one is a brief window of opportunity.
Universal access to treatment. The first reason why engagement is so important RIGHT NOW is that I’m seeing an alarming tendency toward denying access to burosumab for adults (and sometimes also for kids, although it’s less common in pediatric settings). It’s happening in the U.S. with some insurers placing obstacles in the way of access. Some insurers, from what I’ve heard, simply refuse to cover it for adults, no matter what, while others will cover it, but only if the patient/caregiver/prescriber jumps through hurdles every year (or more frequently), having to prove, over and over and over again, that the treatment is medically necessary.
In other countries, where healthcare is nationalized, the issue is whether the health service will pay for burosumab, and if the health service won’t pay, then there’s virtually no chance the patient can afford the state-of-the-art treatment (at around $200,000 per year!). There seems to be a trend whereby these governmental agencies are saying, “Well, okay, it’s worth the price for kids whose bones are still growing, but it’s not worth the price for adults who are merely suffering pain and fatigue and progressive disability.” The agencies don’t fully acknowledge the preventive aspects of the treatment or that, once the damage from enthesopathy and arthritis has happened, it cannot be reversed.
And this denial of access is despite the agencies acknowledging both that burosumab is both safe and effective and that there is no other safe and effective alternative treatment for adults (phosphorus supplements have serious adverse effects and appear to have no beneficial effect on the progression of disabling calcifications). The agency determination boils down to believing that our suffering isn’t worth the price of treating us.
That’s why we need everyone’s voice speaking out about the importance of effective treatment for all chronic hypophosphatemia patients. As a semi-related matter, I’d also like to see more advocacy for the use of burosumab by the autosomal patients (where the underlying cause is overproduction of FGF23, not an ENPP1 deficiency, etc.) to get access, perhaps on a compassionate basis since the expense of a clinical trial for an ultrarare disorder may preclude it ever happening.
Window of opportunity for a cure. The second reason why I think patients speaking up is particularly important right now is that we’re at a turning point for all of medicine, with the rapid advent of gene editing and gene therapy. These therapies are actual cures, not treatments that patients will have to undergo for a lifetime. We already know a lot about the specific mutations that cause XLH and the autosomal hypophosphatemias, which is the first step in pursuing a cure by way of gene editing/therapy. There’s even been proof-of-concept research done in Europe where XLH mice underwent gene therapy that did indeed normalize their blood phosphorus levels, so we know it’s possible.
The next step in developing gene editing for FGF23-mediated hypophosphatemias is the hard one: funding. Patients can contribute financially, but we’re not likely to be able to fund the hundreds of millions of dollars needed to develop the treatment. What we can do, however, is make sure that the entities funding research know how desperately we need treatment.
Judging by the dismissive response of insurers and governmental agencies to the need for burosumab treatment, there’s a real risk that research funders for a cure will come to the same false conclusion, that curing kids is important, but adults are fine. (Yeah, it makes no sense, but that’s the current approach.) If only a quarter of existing XLH patients (the ones who are still children) need a cure, then the market is too small to be worth investing in. But if the market is the entire population of XLH patients, because adults have serious, debilitating symptoms, then the return on investment into developing a cure becomes much more attractive. The funders can discount (and have done it in the past) a few voices, but hearing the same basic pattern of experiences, over and over again is harder to ignore. The number of voices sharing their experiences, and the noise we make with our voices may well determine whether XLH is at the front of the line for a cure or has to wait decades for it.
What you can do now. There isn’t really a specific opportunity right now where your voice can make a difference for either universal access or the size of the market for gene editing. I’m reasonably sure there will be such opportunities in the coming year though, so I want you to be ready to jump on them.
Two concrete things you can do right now to prepare are: 1) commit to sharing your story when there’s a call for input, and 2) start thinking about your story as either a patient or caregiver, and jot down some notes about what your most debilitating symptoms/challenges are (physical, emotional, financial), what you have given up due to your symptoms/challenges, and how your life would have been different/better without a lifetime of those symptoms/challenges, and if you or your loved one is on burosumab, how your life was different before/after this treatment. That way you’ll be ready when there’s a call for you to speak up.
As always, if you have any ideas for sharing your voice or issues that need addressing, feel free to send a note to Gin at gjinjones.com
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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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