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…
Author: giniajo@gmail.com
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,…
Getting organized
This week I’d like to get some feedback about what you do to organize your (or your kids’) medical stuff — appointment schedules, contact info for health care providers, past lab results, key journal articles for sharing with new health care providers, etc. — and what you’d like to do better. I consider myself fairly…
What keeps me awake at night
I started the year with optimism, and there is good news to revel in, but I’d be lying if I said there weren’t also problems on the horizon. There are certainly plenty of reasons for insomnia in the news, but what’s keeping me awake at night in the healthcare field is this: we’re looking at…
I need a footnote!
You’ve all heard my rant about the importance of not calling XLH “a form of rickets,” so I’ll keep it brief here. I mean, it’s fine to say in conversations with friends or family, where accuracy doesn’t matter, and it’s easier than getting into all the details. But with clinicians and researchers, it’s important to…
Good news for a new year!
Let’s start 2024 with some good news. First up is this research that suggests burosumab treatment may improve the dental issues of XLH, even in adult teeth. https://www.nature.com/articles/s41368-023-00259-8#Sec2 That’s pretty shocking to me, since adult teeth form and mineralize in childhood, so I didn’t think it was even possible for them to fill in the…