Delayed Diagnosis in Rare Disease: The Economic Cost, Personal Impact, and Policy Solutions
Summary:
One week ago, I had the opportunity to attend the Rare Disease Congressional Caucus Briefing on Capitol Hill, in Washington, D.C. Joined by leaders from the EveryLife Foundation, the focus of the September briefing dissected the contents of a newly published study, “The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study,” which details the many internal and external costs of delayed diagnosis for several rare diseases; this assessment examines the combined financial, economic, and physical burdens that are exacerbated by a delayed diagnosis. At the briefing, several medical professionals affiliated with the National Institutes of Health, as well as representatives from EveryLife, the American Medical College of Genetics and Genomics, and patient advocates representing the rare diseases analyzed in the report, all spoke on the critical need for comprehensive newborn screening protocols and increased awareness of the Recommended Uniform Screening Panel (RUSP), which determines what conditions must be screened for at birth. Rep. Gus Bilirakis, House Co-Chair of the Rare Disease Congressional Congress, addressed those gathered, and reaffirmed the Caucus’ commitment to diminishing unnecessary financial burdens within the rare disease community.
Response: Red Ink
- Women in the bleeding disorders community disproportionately face delayed diagnosis, with diagnosis being achieved an average of 16 years after the initial presentation of symptoms; diagnosis is also not a guarantee of appropriate or comprehensive treatment.
- Red Ink supports work to make the diagnostic odyssey an equitable process, as well as the evolution of scientific nomenclature to allow for greater diagnostic and treatment-oriented flexibility.
Red Ink 