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…
XLH BLOG
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…
Post-surgical hypophosphatemia
Did you know that surgery can trigger a drop in phosphate levels in your blood, and it can happen to anyone, not just XLHers? It’s seen in high percentages of patients after general surgery, liver surgery, and cardiac surgery. See “Hypophosphatemia following open heart surgery: incidence and consequences” in the European Journal of Cardiac Surgery…
International XLH awareness day
Saturday is International XLH Awareness Day, and the community needs you to do your part in letting the public know what it’s really like to live with XLH. The XLH Alliance has done the hard work, putting together informative graphics about the “best care” for XLH, taken from both medical literature and a survey of…
So unfair
I’m sure I’m not the only person with a rare disorder to think life is unfair in a number of ways. We all have days when we’re overwhelmed by our challenges and think “Why me? Why did I have to get this stupid genetic mutation?” Or “why did my kid(s) have to get this stupid…
Random thoughts
I try to present a coherent argument when I publish my XLH essays, with a theme and logic and conclusion, sometimes even a call to action. But I also have some random thoughts about the XLH life, thoughts that are still forming, perhaps going nowhere, but perhaps just waiting for additional insights that would inform…