Category : Genetics
In clinical practice, there are cases that resolve with standard protocols and there are cases that require us to pause.
In a tertiary care hospital, it is not unusual for a patient to accumulate diagnoses over time.
A child first presents with haematuria and is treated for glomerulonephritis. Months later, hearing difficulties are noted and attributed to recurrent infections. Visual complaints are evaluated separately. The family moves from one clinic to another, carrying thick files of investigations. Each department works diligently. Each finding is explained but independently.Years pass before someone pauses long enough to ask a different question:
When such a patient reaches the genetics outpatient department, the consultation often feels less like a first visit and more like a review of an unfinished story. Old laboratory reports are revisited. Audiograms are re-examined. Family history is explored in greater depth. Gradually, what appeared unrelated begins to form a recognizable pattern, kidney involvement, sensorineural hearing loss, ocular findings. The possibility of Alport syndrome emerges.
There is a particular intensity to that moment. Not because the condition is rare, but because clarity replaces years of fragmentation. The file that once felt heavy with disconnected information suddenly makes sense. Separate problems now have a shared origin.
This pattern is seen across many rare disorders. A child treated for joint stiffness as juvenile arthritis may later develop coarse facial features and cardiac involvement, eventually leading to a diagnosis of Mucopolysaccharidosis. An infant repeatedly admitted with metabolic acidosis and managed as sepsis may ultimately be found to have an inborn error of metabolism. A young adult labelled “accident-prone” due to recurrent fractures may finally be recognized as having Osteogenesis imperfecta.
In many of these cases, the diagnosis was not missed because of negligence. Rare diseases often present with common symptoms. They unfold gradually. They cross specialties.
Rare disorders frequently reveal themselves only when someone steps back from individual findings and examines the entire clinical journey. It is in this context that Rare Disease Day assumes significance.
What Is a Rare Disease?
A rare disease is defined by its low prevalence in the population. In the European Union, a disease is considered rare if it affects fewer than 1 in 2,000 individuals. In the United States, the benchmark is fewer than 200,000 affected individuals nationwide.
Individually rare, these conditions are collectively common. More than 7,000 rare diseases have been identified worldwide, affecting an estimated 300 million people globally.
While approximately 70–80% of rare diseases have a genetic basis, not all rare conditions are inherited. Some may be autoimmune, infectious, degenerative, or multifactorial. Advances in molecular medicine, however, have demonstrated that genetics plays a central role in a significant proportion of these disorders.
Many rare diseases present in childhood. Others manifest later in life. Some are progressive. Some are life-threatening. Most require multidisciplinary care and long-term follow-up.
Why February 28?
Rare Disease Day is observed globally on the last day of February- February 28 in most years and February 29 in leap years. The date itself carries symbolism. February 29 is the rarest day on the calendar, occurring only once every four years.
The initiative began in 2008 and has since evolved into a worldwide movement involving healthcare institutions, researchers, policymakers, and patient communities across more than 100 countries. Its purpose extends beyond awareness to advocacy, for early diagnosis, equitable access to care, research funding, and social inclusion.
The Meaning of a Diagnosis
For families, a confirmed rare disease diagnosis carries weight beyond academic clarity. It provides answers to years of uncertainty. It replaces speculation with structure and allows parents to understand not only what is happening, but why.
Diagnostic clarity connects patients to appropriate surveillance, targeted therapy where available, genetic counselling, and informed reproductive planning. What once felt like a series of unexplained events becomes a condition with a name, a prognosis, and a plan.
Behind every rare diagnosis is a family seeking direction.
The Indian Context
In India, precise epidemiological data on rare diseases remains limited due to underdiagnosis and fragmented reporting systems. However, given the population size, even low-prevalence conditions translate into a significant absolute number of affected individuals.
Several challenges characterize the Indian scenario:
- Delayed recognition and referral
- Limited access to advanced genetic diagnostics in some regions
- High out-of-pocket expenditure
- Inconsistent newborn screening programs
- Limited availability of disease-specific therapies
For many families, the diagnostic journey is prolonged. In some cases, recurrence within families is recognized only after more than one affected child.
At the same time, India has important strengths, increasing availability of next-generation sequencing, expanding metabolic laboratories, growing expertise in medical genetics, and a steadily strengthening research ecosystem.
Recognizing the need for structured intervention, the Ministry of Health and Family Welfare introduced the National Policy for Rare Diseases. The policy outlines the designation of Centers of Excellence, financial assistance for selected treatable conditions, development of patient registries, and encouragement of indigenous research.
While implementation remains ongoing, the policy reflects an important acknowledgment that rare diseases represent a public health concern requiring coordinated systems of care.
The Role of Institutions and Clinicians
Rare diseases do not belong to a single specialty. They intersect with neonatology, pediatrics, obstetrics, neurology, nephrology, cardiology, endocrinology, orthopedics, and beyond.
Early suspicion, timely referral, and multidisciplinary coordination are essential in reducing diagnostic delays. Medical genetics plays a central role, not only in molecular diagnosis but also in risk assessment, family counselling, and long-term planning.
Importantly, rare disease care does not end with diagnosis. Ongoing surveillance, developmental support, nutritional guidance, psychosocial care, and patient advocacy engagement are integral components of comprehensive management.
At our institution, the Medical Genetics Department works collaboratively with multiple specialties to ensure coordinated evaluation for individuals with suspected rare disorders. Looking at the entire clinical picture rather than isolated symptoms remains fundamental to my approach.
Moving Forward
Rare Disease Day is more than a symbolic observance. It is a reminder that uncommon conditions require structured systems, informed clinicians, and sustained institutional commitment. Strengthening newborn screening programs, improving access to genetic diagnostics, enhancing clinician awareness, and implementing national policy frameworks effectively are critical next steps.
Because in medicine, what is rare is not insignificant.
And sometimes, recognizing the uncommon early, can change the trajectory of an entire lifetime.
Dr. Ashwini K R
Consultant Clinical Geneticist
Assistant Professor
Department of Medical Genetics, JSSH&MC