Rare disease patients in 1 US state likely to have delayed diagnosis
Pennsylvania survey finds challenges for conditions like AADC deficiency
People in Pennsylvania living with a rare disease, such as aromatic L-amino acid decarboxylase (AADC) deficiency, face a long and often delayed diagnosis, as well as problems accessing specialized care and financial support, according to the results of a real-world survey.
“The findings underscore the urgent need for increased awareness, support, and advocacy for individuals affected by rare diseases,” the researchers wrote, noting that “some individuals received a clear diagnosis and expedient treatment, while others went through years of misdiagnoses.”
While the survey was conducted in the eastern U.S. state of Pennsylvania, “the experiences reported align with national and international findings on the diagnostic odyssey, suggesting that these barriers and unmet needs are widespread,” the researchers added.
The results of the survey, “The Experiences of Patients With Rare Diseases in Pennsylvania: A Community-Based Study,” were published in Public Health Reports.
Conditions like AADC deficiency are classified as very rare; however, when considered collectively, rare diseases are estimated to affect 300 million people globally.
While approximately 80% of these diseases have a genetic component, getting an early diagnosis — or even a timely one — can be challenging because symptoms often overlap with other conditions and may go unrecognized by both patients and healthcare providers. Additionally, a precise diagnosis often requires expensive techniques, which may not be available in certain communities.
Investigators seek to learn more about patients’ ‘diagnostic odyssey’
As a result, patients frequently wait 4-8 years, on average, for a final diagnosis, a phenomenon that has been termed the “diagnostic odyssey,” according to the researchers. Still, investigations into the real-world experiences of patients with rare diseases in specific populations are limited, the team noted.
In this study, the research team described real-world experiences of patients with rare diseases living in Pennsylvania. The goal of their survey was to identify barriers to diagnosis and treatment.
To that end, the team analyzed the responses of the Rare Disease Needs Assessment Survey, conducted from September 2020 to January 2023, by the Pennsylvania Rare Disease Advisory Council. Respondents comprised patients, caregivers, and rare disease advocates in Pennsylvania.
A total of 1,214 people responded to the survey. Most respondents were adults ages 21 to 64, who primarily were women (67.7%) and white individuals (90.8%), The respondents had a mix of private (63.1%) and government-funded (61.3%) health insurance coverage.
The majority reported one primary diagnosis (74.5%), ranging from genetic syndromes to various rare conditions, including autoimmune and neurologic disorders.
The researchers noted that 19% had an autoimmune disorder, 14% a neurologic condition and 18% a genetic disorder, such as Ehlers-Danlos syndrome and Charcot-Marie-Tooth disease. About a third of the participants (33.5%) reported their conditions as genetic or inherited.
Regarding the timing of their diagnosis, 45.2% did not receive one until at least two years after their first symptoms, and 29.6% waited more than five years. Respondents often consulted multiple healthcare providers, with 44.2% seeing five or more before receiving a final diagnosis.
An accurate diagnosis took longer for women compared with men, with more women having to wait a minimum of five years before getting a diagnosis (32.4% vs. 22.8%). Also, older patients were more likely to wait longer for a diagnosis than younger patients.
Survey also finds transportation issues, financial burden for patients
Transportation issues were prevalent, with 43.5% of respondents experiencing challenges in accessing care, work, or school. Additionally, 30.2% traveled more than 50 miles for treatment, and 29.5% had to go out of state for any medical care. The need to seek medical care out of state was significantly associated with long diagnosis times.
A lack of counseling support was reported by 48.7% of respondents, and 72.9% were unaware of relevant patient organizations or support groups when diagnosed. At the time of diagnosis, 37% of respondents felt they did not receive sufficient information about their disease, and 20.5% reported that they did not understand the information provided by their healthcare providers.
Financial burdens related to rare disease care were significant, with 81.4% incurring personal costs and about half (48.5%) reporting more than $5,000 in annual expenses related to their care.
Annual spending differed between men and women, with male patients being more likely to fall into higher spending categories. Spending also varied significantly by health insurance type.
Additionally, 63.5% of respondents reported needing to leave a job or reduce work hours due to their rare disease or caregiving responsibilities, and 46.2% took unpaid leave for medical reasons.
About 1 in 4 respondents reported being unable to access medications due to copay expenses or lack of insurance coverage, while nearly half (46.3%) were unaware of programs available to help cover medication costs.
Despite policy initiatives, gaps remain in genetic testing access, specialist availability, and psychosocial resources [for rare disease patients].
Longer diagnostic times were linked to higher annual spending, challenges in work-related situations, and poorer patient experiences, including in education and access to testing, treatment, and specialists.
Overall, these findings show that “despite policy initiatives, gaps remain in genetic testing access, specialist availability, and psychosocial resources,” the researchers concluded, noting the barriers faced by these Pennsylvania residents were “substantial.”
“Addressing these issues through improved diagnostics, expanded access to care, and targeted policy changes is essential to enhancing patient outcomes and quality of life,” the researchers wrote.
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