A rare disease is defined by the Orphan Drug Act as a disease or condition that impacts fewer than 200,000 people in the U.S. There are more than 10,000 known rare diseases that affect about 1 in 10 people (or 30 million people) in the U.S. While each disease is rare individually, people with a rare disease often share similar challenges such as accessing information, getting a diagnosis, and finding resources.1

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Pudendal neuralgia is rare, but anyone can get it. An estimated 30,000 to 200,000 people have pudendal neuralgia in the United States. It’s most common in adults older than 19. 2

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Not so Rare

 

Many people assume that rare diseases as a whole are uncommon, as each condition affects fewer than 200,000 Americans. In reality, 1 in 10 Americans have one or more of the estimated 7000 rare diseases – over 30 million people. 2

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A Diagnostic Odyssey

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Human Cost

 

A diagnostic odyssey is defined as the time between when a symptom or

feature of a genetic or rare disease is noted to the time when a final

diagnosis is made. 0

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For people with rare diseases, getting a correct diagnosis can take years and

many visits to different doctors. During this “diagnostic odyssey,” people with rare

diseases might have unnecessary tests and procedures, receive the wrong diagnosis,

and experience delays in getting effective care. This long timeline means that many

people with rare diseases experience irreversible damage as the disease progresses.

Some may miss when interventions could be the most helpful. 2

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Studies Statistics Repeat Same Stories

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The mean time for pudendal neuralgia diagnosis (before treatment can

even start) is 4 years, with a range of 1-15 years. Regarding its distribution

by sex, it has been observed in both women and men, predominantly in women

(60%).

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In addition, results from our survey of 1,360 respondents with confirmed rare disease diagnoses

suggest an average time from symptom onset to diagnosis of over 6 years, including an average

of 17 clinical encounters between symptom onset and RD diagnosis (Yang, Cintina, & Pariser, 2022). 3

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Marginalized Patients 4

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Today, Takeda and the National Organization for Rare Disorders (NORD) released a new report that calls for changes to shorten time to diagnosis and improve health equity for all people living with rare diseases. Getting an early and accurate diagnosis is critical to improving care and quality of life for all individuals living with a rare disease. Yet, the average time from symptom onset to diagnosis is 6 years – and even longer for underrepresented and marginalized patients. 3

 

The diagnostic odyssey for rare diseases, or the time between symptom onset and diagnosis, can last years or even decades. The length of the diagnostic odyssey is even longer for nonwhite patients, particularly women of color. Compared to their white counterparts, the

average time to diagnosis for patients of color is much longer

than the overall 5-year average, leaving them untreated for much

of their lives. Patients suffer from poorer health and quality of life

without proper diagnosis and treatment. Many become depressed,

lose savings on emergency care, and experience negative health

impacts from unnecessary or dangerous treatments. 2

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Consider poor Americans, who have no care, no health insurance, live in

rural areas, have small children, care for disabled family members, care

of elderly parents, and work more than one job. There are no statistics,

no average times before diagnosis of these people because they never

make it to a doctor. Even if they did, the chances of them being properly

diagnosed is beyond remote. They go unnoticed, living in unbearable,

chronic pudendal nerve pain for their lifetimes.

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Financial Cost

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We estimate that the avoidable costs attributable to delayed diagnosis, in terms of medical costs and productivity loss in the pre-diagnosis years, is v between $86,000 and $517,000 per patient cumulatively for the years of delay. This includes a conservative estimate of productivity loss based on healthcare visits and does not take into account travel time, which can be substantial for rare disease patients and their families.
Out-of-State Trips Related to Rare Disease Diagnosis
Source: 2019 Rare Disease Impact Survey Analysis
Annualized Medical Costs Per Patient Prior to Rare Disease
Diagnosis
Source: Lewin analysis of privately insured and Medicaid FFS enrollees, 2016-2020

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For patients, medical debt has become a leading cause of personal bankruptcy, with an estimated $88 billion of that debt in collections nationwide, according to the Consumer Financial Protection Bureau.

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Footnotes

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0 https://avalere.com/insights/shortening-the-diagnostic-odyssey

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1  Diagnostic and therapeutic algorithm for pudendal nerve entrapment syndrome 23 July 2021

https://www.sciencedirect.com/science/article/abs/pii/S2387020621003065

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2  https://nationalpartnership.org/unadmitted-and-undiagnosed-race-conscious-admissions-matter-for-rare-disease-diagnosis/

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3  https://rarediseases.org/in-pursuit-of-health-equity/  Posted October 16, 2023 by NORD

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The Cost of Delayed Diagnosis in Rare Disease:A Health Economic Study

https://everylifefoundation.org/wp-content/uploads/2023/09/EveryLife-Cost-of-Delayed-Diagnosis-in-Rare-Disease_Final-Full-Study-Report_0914223.pdf

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4 SYSTEMATICALLY DISADVANTAGED POPULATIONS, AREAS AND FACILITIEShttps://www.healthequityandpolicylab.com/underserved-populations-areas-and-facilities

Marginalized Patients "Underserved and marginalized populations include people who experience discrimination of any kind and encounter barriers (e.g., racial, ethnic, gender, sexual orientation, economic, cultural, and/or linguistic) to accessing public health and health care goods and services."

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5 https://apnews.com/article/medical-debt-legislation-2a4f2fab7e2c58a68ac4541b8309c7aa