While we need a cure that’s specific to the biochemistry of individual rare disorders, there’s still a lot we can learn from the other rare bone disorders and their patient advocacy work. I’m particularly impressed by a current project by the Osteogenesis Imperfecta Federation Europe to better understand bone pain. OI is a rare bone…
Author: giniajo@gmail.com
Parathyroids and phosphorus
One of the (many) advantages to burosumab treatment is that, unlike the old phosphorus/calcitriol treatment, it doesn’t trigger hyperparathyroidism (excessive parathyroid hormone production). You’ve probably heard of the advice given to XLHers (and I believe also to TIO and other chronic hypophosphatemia patients) that you should NEVER take unopposed phosphorus supplements. I’ve heard a number…
Good news
A fellow XLHer recently bemoaned the lack of good news in the XLH community, and I don’t think it was just winter doldrums speaking. Because I tried to think of some good news and couldn’t! At least not at the time. It was a few weeks ago now, and once I was looking for some…
A somewhat personal reflection
Most of my commentaries here are based to some extent on a scientific aspect of chronic hypophosphatemia, but today I’d like to share a bit about the personal side of health care for patients with a rare disorder. My dentist died a few months ago at a sadly young age. I’m heartbroken for her and…
Gene therapy clinical trials
Something I learned from the FDA’s listening session on clinical trials for gene therapy (which you can watch here), is that there are some unique considerations for whether to participate in this kind of trial, especially in the rare-disorder setting. There are risks and benefits to the patient in any clinical trial. The most serious…
Rare Disease Month 2023
It’s that time — the month leading up to Rare Disease Day. It always falls on the day in February closest to the rarest day on the calendar, February 29. Next year is likely to be a really big celebration, since there will actually be a February 29th (Leap Year Day), but this year it’s…
Restless leg syndrome
Restless Legs Syndrome (RLS) is a real condition, and a known potential side-effect of burosumab (and can also occur in XLH patients who are not on burosumab). I’d love to know if other chronic hypophosphatemias NOT treated by burosumab are also prone to the condition, but I’m not aware of any research into the question….
Gene therapy trials & FDA
The FDA held a listening session recently to hear what patients (and their advocates) had to say about clinical trials for gene therapy. The presentations were absolutely amazing, especially some of the early ones where organizations had really done their homework, holding focus groups and disseminating surveys to learn more about their community’s preferences and…
Telehealth for rare disorders
I love telehealth and think it offers the potential for more rare-disorder patients to get better care from clinicians who actually understand and have significant experience with their disorder! I’m not alone in believing that, as shown by the results of a survey by Rare Patient Voice last year on the topic of telehealth. They…
Looking ahead: 2023 and beyond
The XLH community (there really isn’t an official community for TIO or the other genetic hypophosphatemias that I’m aware of) has done some really great work, like the International XLH Alliance’s annual symposiums of hypophosphatemia, but there are a lot of projects that no one seems to be working on. So, in lieu of resolutions…