This week I’m sharing some light beach reading for your summer vacation. Okay, I lied, and it’s not really light reading, but it’s still worth your time if not perhaps while on vacation! It’s unlikely that your clinicians (unless you see top experts) will know about the most recent XLH research, since there’s a lot…
Author: giniajo@gmail.com
Read it now!
The patient-written article about XLH (also relevant to the autosomals and TIO after it’s diagnosed and resistant to surgery) is live in preprint format (may contain some typos and formatting issues)! You can read “Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia,” online before it’s published in print. The authors are Amber…
Partnership for rare disease gene therapy
I’m sure you know that I believe gene/cell therapy is the future of medicine, and one of the challenges for rare disorders like chronic hypophosphatemia will be justifying the substantial cost of development when the potential market is so small. (Same challenge as for prior forms of treatment really.) Fortunately, we’re in the early stages…
What do you know about XLH?
In honor of summer, when everyone seems to be busier than ever, I’m going to at least try to keep the next few entries a little shorter than usual. Today, a quick reminder about the research being done as a collaboration between The XLH Network, Inc. and Quinnipiac University’s Frank Netter School of Medicine on…
Patient-written article in med journal!
You know how if you fall and hit your head and the paramedics show up, they ask you to tell them the date and where you are and who the president is (I’m fine, the fall I’m thinking of was years ago)? It’s supposed to be proof that you’re brain is intact. Except I can…
Social Security Disability: part four
In prior posts, I went over the basics of Social Security Disability eligibility and the application process, and total disability in the context of XLH. Today, I’ll be sharing some resources to help your attorney and the case reviewer understand XLH in general, as well as specific symptoms/limitations. Once again, first, a caveat, that this…
Mutations and variants
There’s a new database of all the known genetic variants that cause XLH (not the autosomals, which need their own database), and you can read about how it was created in a new journal article in Human Mutation. Here’s the explanation for why the database is so important: “Early and accurate diagnosis is beneficial for…
What’s liver got to do with it?
We generally focus on the kidneys’ role in XLH, but today’s discussion is about the role of the liver in gene editing, which as I believe I’ve mentioned before, is the future, not just for XLH and other genetic hypophosphatemias, but for all of medicine. Now, you’d think that gene editing for XLH would involve…
International research
Most of the time when I share research opportunities, they’re in the U.S., because that’s what I’m most familiar with. But today I’m going to talk exclusively (well, almost) about what’s going on outside the U.S. for those who are looking to get involved internationally. There’s a lot of really interesting research going on around…
Social Security Disability: part three
First, some breaking news to share with your (and especially with your kids’) XLH clinician: The International XLH Alliance has put together an absolutely fabulous XLH symposium for health care professionals on July 1, 2022 in association with the International Conference on Children’s Bone Health (ICCBH). The speakers are all amazing (I can personally vouch…