Avant Health and Rare Patient Voice publish results of an international survey revealing the perspectives of rare disease patients and their caregivers on the journey to diagnosis

Two-thirds of rare disease patients and their caregivers from four countries report that it took up to five years to diagnose their rare disease, and more than half of patients report having been misdiagnosed at least once.

BETHESDA, Maryland., July 15, 2024 /PRNewswire/ — A new survey of 800 rare disease (RD) patients and their caregivers across the United States, Great Britain (UNITED KINGDOM), SpainAnd Germanywas conducted by Avant Health and Rare Patient Voice between February and April 202466% of RD patients report that it takes up to five years to be diagnosed with RD, ranging from 74% (US) to 56% (UK). These findings are part of a survey that asked RD patients/caregivers about their opinions on their diagnosis journey, access to healthcare and their perspectives on living with RD.

The participants came from four countries: 100 from Germany168 of Spain252 from the UK and 280 from the USA, with a mean age of 44 years; 85% were female, 78% were RD patients, 15% were carers of an RD patient, and 7% were both patient and carer.

One in five respondents (21%) said it took more than 10 years to be diagnosed with their rare disease. The range was from 15% (US) to 28% (UK). Overall, 54% said they had been misdiagnosed at least once. The range was from 46% (Germany) and 58% (UK); 72% reported difficulty in finding a doctor specialising in the rare disease in question. The range was from 67% (US) to 80% (GermanyTwo thirds (67%) said they had to see a doctor. >3 specialists before receiving an RD diagnosis, and it ranged from 62% (UK) to 79% (Spain). The survey also found that 34% of RD patients were denied diagnostic testing/treatment for their RD, ranging from 25% (US) to 40% (Germany).

“The path to diagnosis for rare disease patients remains long and arduous. In some of the European countries surveyed, the burden appears to be somewhat higher. The results warrant closer scrutiny to improve access and delivery of healthcare for rare disease patients in affected regions,” says Siva Narayanan, CEO of Avant Health.

For more information, please contact:
Dr. Siva Narayanan
Avant Health
Bethesda, MDUSA
+1-301-799-8268
(email protected)

Laura Mullen
Rare patient voice
Towson, MDUSA
(email protected)

About Avant Health
Avant Health, LLC is a consulting firm and CRO that advises the life sciences industry, sharpening the formulation and execution of the client’s commercial, scientific and evidence-based strategy, accelerating their path to success. Avant’s approach integrates strategic insights with evidence generation tactics to think about unmet patient needs and outcomes and defend product value propositions. For more information, visit: https://avant-health.com.

About Rare Patient Voice
Rare Patient Voice, LLC provides patients and caregivers with the opportunity to participate in all types of research, including market research, health economic outcomes and real-world evidence, user experience/human factors studies, and clinical trials. RPV serves over 145,000 patients and caregivers with more than 1,500 rare and non-rare diseases. For more information, visit www.rarepatientvoice.com.

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