For many people in India, the journey to finding out what’s really wrong with their health can take years. This is especially true for those living with rare diseases. Their symptoms often look like common problems such as stress, weakness, depression, or body pain, which makes diagnosis extremely difficult.
Medical experts explain that rare diseases frequently go unnoticed because their signs are subtle and non-specific. Patients may visit multiple clinics, consult different doctors, and undergo repeated treatments, yet continue to suffer without clear answers. In some cases, this delay can lead to serious health complications.
Experts recall a recent case of a 39-year-old woman who struggled for years with constant fatigue, mood swings, joint pain, and recurring skin rashes. At first, her condition was diagnosed as depression and fibromyalgia, which are far more common illnesses. She received treatment, but her symptoms did not improve. It was only after nearly three years that she was referred for further, more detailed investigations. Eventually, she was diagnosed with Systemic Lupus Erythematosus (SLE), a rare autoimmune disease in which the body’s immune system attacks its own tissues.
According to medical professionals, such stories are not unusual. One major reason rare diseases are missed is that their symptoms closely resemble those of common conditions, leading to misdiagnosis. Another factor is limited awareness among both the general public and sometimes even healthcare providers. Access to advanced diagnostic tests and specialist consultations can also be challenging, especially for patients living outside major cities. In addition, when routine medical tests come back normal, symptoms may not be investigated further.
Experts stress that awareness and timely action are crucial. Persistent symptoms without a clear explanation should not be ignored. Doctors are encouraged to maintain a high level of suspicion when common treatments fail to work as expected. Early referrals for specialised testing can prevent years of uncertainty and improve outcomes.
Rare diseases may affect a small number of people, but for those living with them, an early and accurate diagnosis can truly change and even save lives.
