There’s a really interesting new article about the diagnostic journey for XLH patients, in the context of electronic health records (EHR): “The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia.” A lot of the data analysis in this new article is beyond my expertise, but if I understand it correctly, they took a massive…
XLH BLOG
In case you missed it
I’m taking a break this week from original content while I prepare for a new book release on Monday (A Dowry of Death, the latest in my Helen Binney mysteries). To tide you over, I’m sharing some links to my favorite posts of the last three months, in case you missed them and want to…
Actions, not platitudes
I had another molar extracted on Monday. Nothing out of the ordinary for XLHers, but it got me to thinking about advances (or lack thereof) in dental care and access, especially for those of us who have more than our fair share of dental issues as a direct result of an underlying medical condition. There…
XLH is a progressive disorder
If you haven’t seen the video already, there was a segment about XLH on a televised talk show recently. You can watch it here: https://www.youtube.com/watch?v=BJoNh_X5GMk&t=908s It’s basically a paid infomercial sponsored by Kyowa Kirin, NA, advertising the need for treatment, rather than a specific treatment. There was another similar one a while back sponsored by…
Waiting for our lives
Patients in the England are waiting for a decision later this month about whether burosumab will be available for XLH adults there, waiting to find out if they’ll have a chance at a somewhat normal life instead of a dysfunctional one. Burosumab is available to kids there now, but not adults, except for a few…
About Rare Disease Day
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…
Insurers are not your friends
You probably know this already, but here’s a reminder: Insurers are not your friends. Neither are pharma, hospitals, health care providers, or pretty much anyone else who has a commercial relationship with you. Some may care more (or less) about your wellbeing, but they’re still not your friends. But insurers are the worst. My father,…
Interplay of pain and fatigue
I believe that pain and fatigue aren’t two separate symptoms, but are two sides of a single symptom. Pain drains the body’s energy, leading to fatigue, and pre-existing fatigue from other causes can make the body less capable of coping with pain, so it feels worse. So you can see why I’d be interested in…
Recent journal articles
After asking you to do all the work for a couple weeks (answering my questions), I’m back to my usual pontificating. This week it’s a collection of interesting journal articles. The first is a somewhat unusual case report about chronic hypophosphatemia caused by an iron infusion. Hypophosphatemia is always a risk with these infusions, but…
Weak Bones, Strong Wills sequel?
I’ve got another question for you today. You’ve all read Weak Bones, Strong Wills, right? How would you feel about a sequel, this time focusing on the experiences of kids/teens/YA? The original book has sections for various age groups, but mostly written from an adult perspective. The sequel I’m considering would include some adult insights,…