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…
Author: giniajo@gmail.com
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…
Economic burden of XLH
In 2019, the EveryLife Foundation gathered information on the financial burden of rare disorders in an attempt to better understand the full extent of the societal burden of rare diseases as a whole, rather than individually. That big picture was missing, since prior studies had focused on single rare diseases, which, because they were rare,…
Repeating ourselves until we’re heard
I was recently told by someone in the medical community that reminders about the need for multi-disciplinary teams to treat XLH, like what we argued in our ASBMR poster, aren’t necessary, because clinicians already know that about chronic conditions, and XLH is just one of many chronic conditions, nothing special about it. They’re wrong. With…
April actions
Before I get into the nitty-gritty of how you can support the patient community this month, there’s an opportunity (U.S. only — I plan to share some non-U.S. opportunities next month) for anyone interested in providing beta-user feedback for an NIH website that’s updating its pages on genetic and rare disorders. It takes about an…