A Study of Diagnostic Experience and Impacts of Rare Disease Diagnosis In Children and Their Families: Insights from India

Objective: Many rare diseases are usually misdiagnosed or diagnosed late. Delays in diagnosis have led to delayed treatment, resulting in poor outcomes. This study aims to shed light on the Indian scenario and help formulate schemes for early diagnosis, management of rare diseases and to uncover the unmet needs of the families of children with rare diseases. Methods: The target population were families with a child (17 years or younger) with any rare disease coming to SPINPH, Jaipur. The first author met face-to-face with the parents and they were made to answer a questionnaire. The questionnaires were checked for completeness and statistical analysis done. Results: In this study, we found that 63% of patients believed the diagnosis was delayed and 47% patients had to see ≥6 doctors to get the correct diagnosis. Overall 67% patients did not get the correct diagnosis for more than 3 months since the onset of symptoms, while 10% patients had to wait more than 1 year. Maximum diagnostic delay was found in children with Inborn Error of Metabolism. Conclusion: As it is difficult to diagnose rare diseases, they are mostly missed at the primary healthcare level due to the non-availability of specialists and hence timely referral to higher center is the key to early diagnosis. As IEMs are usually misdiagnosed, an extensive newborn screening program for some common IEM, can help in solving a part of the problem.