I’m back to asking questions again today. But first, a quick little tidbit about TIO. There’s a new case report out about a woman with TIO, where the clinicians initially decided it was unsafe to operate, so they left the tumor in place and treated with burosumab. Some years later, they decided to take another look at the tumor and realized that even though the burosumab had normalized the patient’s blood phosphorus levels, the tumor was continuing to grow and now needed to be removed.
I think this is useful information (for all types of hypophosphatemia), because it demonstrates in a concrete, objective (x-ray) way that simply normalizing the effects of excessive FGF23 does not cure the underlying problem. The underlying problem in TIO is the tumor, which apparently keeps growing despite the burosumab, and the underlying problem in XLH is the step BEFORE the FGF23 gets to our kidneys (where burosumab works), when the cells in our bones produce too much FGF23.
We think of burosumab as, effectively, a cure (as long as it’s administered monthly), and we talk about it addressing the root of the problem, and it’s certainly a lot closer than the old phos/calcitriol treatment. But the excessive FGF23 in our kidneys is not, in fact, the root of the problem. The overproduction of FGF23 by our bones is the root of the problem, just like the production of FGF23 by tumors is the root of the TIO problem. Which is why we need more research into the biochemical steps in between the PHEX variants and the cells in our bones producing too much FGF23. If we figure that out, we’ll finally be able to develop a true cure for XLH, and possibly for TIO as well, because we’ll probably be able to figure out the process for how the tumors produce FGF23 (currently unknown), and be able to turn that off too.
Okay, now for the questions. I’m curious about your experience with Rare Disease Day. I have some thoughts, but first I’d like to hear from you.
I’m assuming you know that Rare Disease Day was February 29th this year (although if you didn’t realize that, I’d be interested to know that too). How long have you been aware of Rare Disease Day as the last day of February?
Did you do anything to celebrate the day (post on social media, go to an in-person event, contact a politician, donate to a rare organization/event, something else)? If you did something, do you expect to do it again next year? If you didn’t, what would get you to become involved?
Did you see any stories about it in your local newspaper or other source of news (besides social media)?
What do you think Rare Disease Day is trying to accomplish, and do you think it’s accomplished any of those goals? How is it different from (or the same as) Giving Tuesday?
That’s all I’ve got for specific questions, but if you have other thoughts about it, don’t feel limited by my questions. I always love to hear from you!
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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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