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,…
Author: giniajo@gmail.com
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…
Social Security Disability: part two
Last month, I went over the basics of Social Security Disability eligibility: applicants must have worked a certain period of time for a job that pays into Social Security (or else can only apply for Supplemental Security Income, usually a smaller payment), can’t be earning too much (but it’s a low threshold), and must be…
A bit about ENPP1
I’m very far from an expert on ENPP1 (a chronic disorder involving phosphate metabolism, with a different cause from XLH), so I apologize in advance for any errors I may make in discussing it. I think it’s worth our at least trying to understand the basics, because of the exciting ENPP1 research that’s happening, with…
Oral health care
Dental issues are among the most difficult for XLH (and other chronic hypophosphatemia) patients to deal with. Not only are the spontaneous abscesses (and other dental abnormalities) painful and expensive to treat, but they’re also the source of a great deal of frustration and trauma related to our inability to prevent them, while still being…
Random thoughts and links
I’m not in the mood for anything too deep or depressing, so today is just a collection of odds and ends, mostly from Twitter, where I share bits of information at least partly so I can find it later. If you’d like to follow me there to get these tidbits in real time, my Twitter…
Feeling overwhelmed? Me too!
I was going to talk about something else today, but given world events, I thought everyone might be feeling a bit overwhelmed right now. The thing about living with a chronic disorder is that we’re basically at the maximum amount of stress we can handle all the time. Add something else, no matter how tiny,…
Social Security Disability: part one
First, a bit of breaking news: Due to a last-minute unavoidable cancellation, Dr. Tom Carpenter has just replaced the keynote speaker for Quinnipiac’s Rare Disease Day Symposium this Friday. His topic will be of particular interest to everyone in the chronic hypophosphatemia community: “Across the Lifespan with X-Linked Hypophosphatemia: The Changing Character of a Chronic…
Rare Disease Day
February, as the lead-up to Rare Disease Day on February 28th, offers a number of opportunities to take action for your hypophosphatemia (or, more generally, rare disease) community. There are events happening all month, some in-person, some virtual, some local, some worldwide. I know it can be overwhelming, all the calls for action. But I’m…