Rare Diseases Explained: Why Early Diagnosis Can Save Lives - Dr Kapali Neelamegam

When we hear the phrase “rare disease,” it always seems like something that happens to someone else, in a far-off place, to just a few people. But the truth is that rare diseases are not so rare in India. With so many rare diseases (over 7,000 identified worldwide), it is estimated that 7-9.6 crores of people in India could be living with a rare disease. But the problem isn’t just the disease it’s the delay in diagnosis.

Patients often wait for years, visiting doctor after doctor, before finally getting a clear idea of what they are suffering from. For instance, the regular occurrence of severe headaches in a young individual may be diagnosed as migraine for several years but, in rare cases, may turn out to be conditions such as mitochondrial diseases or metabolic disorders.

On the other hand, the regular complaint of abdominal pain may be diagnosed as acidity or IBS, but in rare cases, it may be associated with conditions such as acute intermittent porphyria, a genetic disorder that also affects the nervous system.

Why is it hard to diagnose a rare disease?

The reason is that most rare diseases are genetic, and the symptoms can often be like those of more common diseases like chronic fatigue, developmental delay in children, pain, frequent infections, seizures, or progressive failure of organs.

Because the symptoms are so common, they are often treated separately, without considering them. This is a long journey, also known as a “diagnostic odyssey,” and may take 5-7 years or longer. In smaller towns and rural areas, the lack of genetic testing and rare disease centers makes the delay even longer.

Why is early diagnosis important?

Early diagnosis can make a huge difference in the treatment of many rare diseases. In fact, for some rare diseases, treatments such as enzyme replacement therapy, special diets, bone marrow transplants, and more recently, gene therapies, are available.

These treatments work best before permanent damage is caused. For instance, early treatment can prevent the progression of neurological damage, organ failure, or disability. Metabolic disorders, if untreated in children can cause irreversible damage to the brain, but with early dietary management, near-normal development is possible.

In other conditions such as Gaucher disease, enzyme replacement therapy can prevent the enlargement of organs and bone complications if commenced early.

What are the challenges in India?

There is a lack of awareness about rare diseases among the public and even among primary care physicians. There is social stigma attached to genetic disorders, which prevents families from seeking early treatment.

The cost of advanced diagnostic tests and therapies is a burden. In addition, there are few rare disease centers, which are mainly located in large cities. Parents are often told to “wait and watch” if there is a delay in developmental milestones, but unusual symptoms should never be ignored.

What should one know?

If a disease is chronic, rare, affects multiple organs, or is seen in families, it is worth expert assessment. Repeated episodes of unexplained illness should not be dismissed. Early referral to a specialist can result in quicker diagnosis and improved outcomes.

Not every chronic headache or stomach pain is serious, but when symptoms are continues, severe, or accompanied by other unusual signs, they should not be ignored.

Disclaimer: The views expressed in this article are of the author and not of Health Dialogues. The Editorial/Content team of Health Dialogues has not contributed to the writing/editing/packaging of this article.