Living With Isaacs’ Syndrome: The Invisible Struggle of Rare Disease Patients in India

Living with Isaacs’ syndrome, a rare neurological condition that causes continuous muscle stiffness, twitching, cramps and nerve hyperexcitability, Archith Shah says the biggest challenge has not just been medical — but systemic invisibility.

In his personal account, Shah describes years of hospital visits, moving from neurologists to rheumatologists, orthopaedic specialists to psychiatrists, undergoing repeated blood tests, EMGs and MRIs before receiving clarity. Like many rare disease patients in India, he experienced delayed diagnosis, confusion and emotional exhaustion.

Rare diseases often mimic more common conditions, leading to symptoms being dismissed as stress, vitamin deficiencies or routine fatigue. In a healthcare system already under pressure, unusual presentations are frequently overlooked. By the time patients receive a confirmed diagnosis, they are often physically and mentally drained.

Though each rare disease affects a small percentage of the population, collectively they impact millions. Globally, more than 7,000 rare diseases have been identified. In a country as populous as India, even “rare” conditions can affect thousands — yet awareness at the primary care level remains limited. Access to genetic testing is expensive, treatment pathways are fragmented and insurance approvals can be difficult.

Beyond medical challenges, Shah highlights the social and emotional toll. Patients often face well-meaning but uninformed advice, workplace misunderstandings and the burden of repeatedly explaining invisible symptoms. The financial strain of long-term treatment adds another layer of stress.

He stresses that improving rare disease care requires more than sympathy. It demands better training for primary doctors to identify red flags, expanded access to diagnostics, stronger insurance coverage, research support and national patient registries to understand the true scale of the issue.

As the founder of Ordinarily Rare, Shah now advocates for greater awareness and systemic reform. His message is clear: rare diseases may be medically uncommon, but the struggle surrounding them in India is far from rare.