Skip to content

Gin Jones

USA Today bestselling author of traditional mysteries

Menu
  • Welcome!
  • Bio/Contact
  • Books
  • Reviews
  • Helen Binney
  • XLH BLOG
Menu

Taking action

Posted on July 9, 2025July 6, 2025 by giniajo@gmail.com

I’m way overdue for sharing an action you can take to benefit the rare disorder community, and equally overdue for taking action myself. So today I’m asking you to join the National Organization for Rare Disorders’ “Living Rare” study if you live in the United States AND are an adult (18+) with a rare disease/disorder (doesn’t have to be XLH, so feel free to share the link with anyone you know who has a rare disorder), OR a caregiver for someone with a rare disease/disorder. (I believe the reason it’s limited to US residents is because of the complications involved in international studies, with each country having its own unique rules relating to Institutional Review Boards and privacy and consent.)

This study is part of NORD’s “I am Rare” platform, which is used by a number of patient advocacy groups to do natural history studies for their individual disorders. The difference is that this particular research is more of an umbrella study, looking at issues that potentially affect all rare disorders, rather than being limited to a single disorder. Most of the questions are about the costs, both financial and otherwise, of living with a rare disorder, presumably looking for data like what was previously collected by the EveryLife Foundation in its report on the economic costs of living with a rare disorder. Before you get started, you should be prepared to answer some general questions about your health insurance, your out-of-pocket expenses (copays, etc.), and how much time you spent on various health care related tasks. You don’t need to know the answers down to the penny, but you should be able to place your costs (and time) within one of the ranges provided in the possible answers.

Because the NORD project is essentially a natural history study of ALL rare disorders, it is intended to collect data over time, showing how living with a rare condition changes over a patient’s lifetime. Once you join this study, you’ll be asked to update your responses annually. Also, you should be aware that signing up and then doing the baseline surveys is somewhat time-consuming, but you can break it up and do a little bit at a time without losing all of your data.

I realize I haven’t exactly made the process sound fun—it’s not—but it’s really important that we make sure the patient voices are being heard when it comes to the daily lived experience of juggling the finances and socio-economic challenges of rare disorders. I think it’s extra important for the XLH community to show up for this kind of research, because XLH is one of the ridiculously few rare diseases that actually has an effective treatment, so we have slightly different experiences from the average rare patient.

If, like me, you’re feeling helpless in the face of constant attacks on scientific research/expertise (medical and otherwise), participating in this study is one small but important way to fight back. I hope you’ll join me, and I’ll keep looking for more ways to make the patient voice heard going forward. If you know of anything that fits that description, please let me know!

***

Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.

If you’d prefer to read this blog as a newsletter, sent straight to your inbox, please sign up here.

Share on Social Media
x facebook linkedin

Preorder for December 2, 2025

Follow me

Sign up for newsletters

Author newsletter

XLH blog as a newsletter

 

Future releases

Old-Fashioned Holiday Homicide, November 19, 2024

Links to blogs, etc.

Day in the Life story at Dru’s Book Musings, November 20, 2024

Fresh Fiction, Twenty Questions, November 18, 2024

Day in the Life story at Dru’s Book Musings, January 2024

Cover reveal at Dru’s Book Musings, November 5, 2023

Quilts for Christmas, Kensington blog, December 2020 https://www.kensingtonbooks.com/between-the-chapters/quilts-for-christmas-and-more/

Day in the Life of Mabel Skinner April 2020  https://drusbookmusing.com/2020/04/22/mabel-skinner/

Kensington’s Between the Chapters bookclub, “Emergency Garlic Butter” March 2020 https://hobbyreads.wordpress.com/2020/03/25/emergency-garlic-butter-recipe/

Drusbookmusing.com January 2019, interview of Helen Binney.  https://drusbookmusing.com/2019/01/15/helen-binney-4/

Drusbookmusing.com November 5, 2018,  interview of Keely Fairchild. https://drusbookmusing.com/2018/11/05/keely-fairchild/

 

©2026 Gin Jones | Built using WordPress and Responsive Blogily theme by Superb