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USA Today bestselling author of traditional mysteries

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Whole-family disorder

Posted on May 21, 2025May 18, 2025 by giniajo@gmail.com

Remember the patient-focused, patient-authored opinion piece about how XLH is a whole-body, whole-life, whole-family disorder? Well, there’s now some data to support the claim to the whole-family element.

“The Burden of Adult X-Linked Hypophosphatemia on Carers and Family Members: A Mixed-Methods Study” was co-authored by an XLH patient and founder of XLH-UK, Oliver Gardiner. The researchers collected data (survey results) on quality of life, and also interviewed the volunteers to gather more free-form insights.

The overall conclusion, hardly surprising to either patients or caregivers, is “that the impact of XLH in adults extends beyond the patient, exerting a substantial quality of life and productivity burden on carers and family members.”

The article also notes that, “Our findings suggest that novel treatments for XLH patients may positively affect carer burden, with some participants describing decreased support needs and improved emotional wellbeing.”

Both of these conclusions (and the data supporting them) are particularly important when it comes to evaluating whether a new treatment (like burosumab or some similarly groundbreaking new option in the future, like gene/cell therapy) is cost-effective. We all know that burosumab is wildly expensive, and insurers in the U.S., as well as the governmental agencies for health care systems in other countries, are always weighing the expense in relation to the benefits of the treatment. (In the U.S., it’s couched in terms of “medical necessity,” and in national health care systems, it’s addressed more directly when the relevant agency decides whether to make it available within that system.)

There are several published articles already on the costs, both physical and financial, to the patients themselves, but this is the first article that discusses what it calls the “spillover” costs of living with XLH to the rest of the patient’s family. Those costs are, in theory, something that governmental agencies are willing to consider, but there’s seldom any data to submit to them. Now, there is!

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

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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/

 

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