Rare Diseases: Why 'Weakness' Can Be a Dangerous Warning Sign in India

• Many rare disease patients in India face delayed diagnosis due to symptoms resembling common illnesses or attributed to stress/weakness.
• Dr. Bharesh Dedhia highlights that subtle, non-specific symptoms often lead to years of undiagnosed conditions and prolonged suffering.
• A 39-year-old woman was misdiagnosed with depression and fibromyalgia for three years before being correctly identified with Systemic Lupus Erythematosus (SLE).
• Reasons for missed diagnoses include overlapping symptoms, lack of awareness, limited access to specialized care, and normal initial test results.
• Early awareness, vigilant healthcare providers, and timely referrals are crucial for improving diagnosis and patient outcomes for rare diseases.