I intended to talk about Rare Disease Day (Feb. 28), but that can wait, and I’m too excited about a new journal article to wait to share it with you. I highly recommend that you read it and share it with anyone you think might be interested. The article is “Potential influences on optimizing long-term…
Author: giniajo@gmail.com
Why get involved now?
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…
Toss a coin to your researcher
For a novel I’m working on, I’ve been thinking a lot about the role of science in capitalism, and the role of capitalism in science. It’s relevant to patient advocacy too. Something I didn’t fully comprehend before the first time I volunteered for a research study was that the scientists who do basic science (the…
You can make a difference
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…
Commonalities before differences
For a long time, researchers have been focused on differences among health issues, rather than commonalities. There are historical and sometimes practical reasons for this approach, but it’s not necessarily beneficial for patients. Consider the separation of “health” care and “dental” care. XLHers, of all people, can attest to dental care being a critical part…
Looking ahead
It’s a shiny new year, and I’m ready to resume sharing my thoughts on journal articles, pending research, and patient advocacy as they relate to the various chronic hypophosphatemias. One of my goals for the new year is to increase the reach of this blog/newsletter. If you know anyone with one of the chronic hypophosphatemias…
Holiday hiatus
Unless something time-sensitive happens in the chronic hypophosphatemia community over the next month, I’ll be taking a break from the blog/newsletter until January 5, 2022. I’ll be too busy to write anything, and you’ll be too busy to read! In the meantime, if there’s a topic you’d like to see me address, please tell me…
Transition to adult care
Are there any children or adolescents or young adults with #XLH in your household or extended family? If you celebrate Thanksgiving, will you be seeing any of these XLHers for the holiday? Or for some other holiday in the near future? If so, here’s something to share with them: “Healthcare Transition from Pediatric- to Adult-Focused…
ASBMR poster
I’m really proud of the work a team of patients did (including me, but I couldn’t have done it alone, and it’s so much better with collaboration!), working with health care providers, Ultragenyx employees, and professional writers/artists to produce an abstract and poster that was presented at the recent conference of the American Society for…
Ear bones and hearing
Researchers are finally taking seriously the symptom that many, but not all, XLHers experience, and that has a major adverse effect on daily life: hearing loss. There are now two published journal articles discussing research (in mice, not humans) on the bones in the ears, which (if I’m reading it right, and remember, I’m not…