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 is for educational purposes only, not individual legal advice. I do have legal training, but I did not represent clients seeking disability compensation, so my explanations here are based primarily on my personal experience applying for my own Social Security Disability benefits. I can’t give anyone individual legal advice, and strongly encourage you to seek out a lawyer in your jurisdiction who has experience with Social Security disability claims if you have questions. This information is intended to help you to help your attorney, who may not familiar with XLH and how it can be disabling.
XLH Overview:
- Clinician’s Guide to X-Linked Hypophosphatemia (Note: this is pre-burosumab, and somewhat dated, but still the gold standard for an overview of XLH)
- The Symposium on Hypophosphatemia: Clinical Overview (Youtube video of Karl Insogna, MD, doing an overview of XLH and other chronic hypophosphatemias. Long, but brilliant and accessible and informative for anyone, from non-scientists to patients and even to endocrinologists who are not already XLH experts!)
Experiences of adults in general (adults are more likely to be disabled than XLH kids):
- Exploring the Burden of X-Linked Hypophosphataemia: An Opportunistic Qualitative Study of Patient Statements
- Musculoskeletal features in adults with X-linked hypophosphatemia: An analysis of clinical trial and survey data
- Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia
- Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course
- The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
- Physical function and physical activity in adults with X-linked hypophosphatemia
- Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
Hearing Loss:
- Characterization of otologic involvement in patients with X-Linked Hypophosphatemia
Dental issues:
- Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets
- Oral Health-related Quality of Life in X-linked Hypophosphatemia and Osteogenesis Imperfecta
Patient Voice publications (but these are probably better for your attorney to understand the lived experience than for a case reviewer who may share the medical community’s resistance to acknowledging patients as experts):
- Voice of the Patient Report (from The XLH Network’s Symposium on Hypophosphatemia; produced as part of an Externally-led Patient Focused Drug Development meeting attended by representatives of the U.S. FDA)
- Recordings of the Symposium on Hypophosphatemia (testimony by patients with XLH or TIO; link is to first panel of speakers, but look for other related videos)
- Patient Perspective poster at ASBMR 2021 (this link may disappear over time; email me at the address below if you want a PDF of it)
You and your attorney will need to sort through which resources you think are most relevant to your particular circumstances. For instance, if you don’t have hearing loss, you can skip those. I believe in providing as much information to the case reviewer as feasible, but too much can be overwhelming and counter-productive (too much to read, so they just give up).
Keep in mind too that more articles about XLH, and especially the adult experience which hasn’t been studied as much in the past, are being published every day, it seems. If you need something specific for your application, perhaps related to a symptom that’s limiting your ability to work but you’re not sure is related to XLH and it isn’t addressed in the links above, feel free to drop me a note at the email below, and I’ll try to find you something on the topic.
And that’s it for the four-part series on Social Security Disability in the context of XLH. If there’s anything I missed or if you have any questions (not specific to your own case), which you’d like to see me address here, please email them to me: Gin at GinJones dot com, and if I can answer them, I’ll do an additional post in this series.
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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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