The world is a bit overwhelming these days, and you may be thinking, as I often do, that if you could just do something useful to help with just one of the bazillion problems facing us, that I’d feel better. But then I go looking for something to do, and I get overwhelmed all over again by all the possibilities and not knowing where to start.
So for 2022, every month (or as many as I can manage; I’m overwhelmed these days too!) I’m going to share some concrete actions you can take to benefit either the chronic hypophosphatemia community specifically, or the rare disorder community in general.
The list is going to look long, but don’t let that discourage you. You can narrow down the options based on what resources you have available in terms of time and the ability to travel or not). I hope you’ll find something that you find rewarding, and do please let me know (gin @ginjones.com) how it goes.
From home: First up is something you can do from the comfort of your home and will only take a few minutes: participate in an online survey (and optional followup by Zoom if you have an additional half hour of time to commit to the project) on: “A comparison of knowledge, attitudes, and experiences of patients with inherited v. de novo [spontaneous] forms of X-linked hypophosphatemia (XLH).” It’s a collaboration between The XLH Network, Inc. and Quinnipiac Unversity’s Frank Netter School of Medicine. Please note that, for a variety of legitimate reasons, this study appears to be limited to XLH patients only (not autosomal versions or TIO), so my usual inclusionary language about ALL the hypophosphatemias doesn’t apply here.
Something else you can do from the comfort of home is sign up to attend Quinnipiac’s Rare Disease Day symposium on February 25. There will be several presentations, including a patient panel, plus a keynote by Demetrios Braddock, MD, PhD, on Development of Novel Therapeutics for Rare Calcification Disorders. Dr. Braddock was instrumental in the development of an enzyme replacement therapy (currently in clinical trials!) for ENPP1 deficiency, a genetic form of hypophosphatemia with a different cause than overproduction of FGF23 (and I’ll have more info about ENPP1 in one of the next few newsletters). I believe we’re about to see a tidal wave of new treatments for rare disorders, and even ultra-rare ones like ENPP1, so it’s important to understand what’s going on to better understand the future of treatment (and possible cures) for all of the chronic hypophosphatemias. Attending this virtual conference won’t change anything immediately, but it will arm you with information that will enable you to advocate better, whether for the community as a whole, or for yourself or a loved one.
One other thing you can do from home that takes practically no time at all is to pass along a link to this blog (or to the signup for the newsletter version of this blog) to anyone else you know in the hypophosphatemia community, so that they too can know about opportunities to make a difference. If all you have is a few seconds, it really does help if you share educational posts on social media too, so if you see something from a reputable patient advocacy group that’s useful on Facebook or Twitter or your format of choice, don’t just “like” it, but share/retweet it too. You never know who might see it and benefit from it, when they wouldn’t otherwise.
In person: If you have the time and energy for doing good in person AND you can’t be on burosumab for some reason, there’s a new research study at Yale, “The Impact of Phosphate Metabolism on Healthy Aging.” In my experience, the people running clinical trials treat their subjects like royalty, so it’s practically a vacation (if vacations included blood draws and other medical testing). The study is intended to learn more about the heart health implications of XLH and Hereditary Hypophosphatemia with Hypercalciuria in the context of treatment with phosphorus supplements. You may have seen some references to the possibility that FGF23 excesses can adversely affect heart health, but to date there’s no clear data on the issue. Fortunately, anecdotal evidence doesn’t seem to support any real difference between XLH heart health (something I’m particularly interested in after open-heart surgery recently!) and heart health in the general population, but we need actual data to know for sure, so we can advocate for our own (and loved ones’) best treatment.
Incidentally, there’s also an older study (also in-person) that may still be recruiting at Yale, on the effect of burosumab on muscle function. It’s a great opportunity for anyone who is not yet on burosumab (or was on it but had to stop for a significant period before beginning the study) to see if it will in fact help them (since only patients NOT recently on burosumab are eligible; the study looks at muscle function results before and after burosumab treatment, so obviously the initial evaluation has to be before burosumab is begun). The last I knew, they were looking for one or two more participants, and this research is so, so, so important, and it’s already been delayed a long time due to the pandemic. Adult patients in both the U.S. and around the world are being denied access to burosumab, based on the assumption that the only benefits are to bone healing, so a patient who doesn’t have any still-healing fractures can’t get treatment. We all know that burosumab improves so much more than just bone formation/healing, but there’s no clear data on the issue yet. I’m hopeful that this study will, in fact, confirm a significant improvement in muscle function for patients who are on burosumab.
In general: And finally, I’ve focused on specific opportunities within the U.S., but there are some important studies happening in Europe and Asia. If you’re outside the U.S., follow the link to see what’s in your country. They include registries or natural history studies (some of which can be done primarily from home), plus a couple on dental issues, and several investigating different aspects of either burosumab or FGF23.
So please, consider participating in research at whatever level you’re comfortable with (and after reviewing the protocols and discussing the pros/cons with trusted advisors). I’ll be back next month with some more specific actions you can take, with a focus on Rare Disease Day.
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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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