Rare Diseases: The Importance of Awareness and Early Diagnosis

Hyderabad, 16th March 2023: Rare diseases often go unrecognised and overlooked. Individually rare, but these diseases collectively affect millions of people worldwide. According to the National Institutes of Health, there are approximately 7,000 rare diseases that collectively affect around 400 million people globally. Sadly, the majority of these conditions have no cure, and patients and their families are often left feeling isolated and unsupported. 80% of rare diseases are genetic in origin, and mostly affect children. 72 to 96 million people in India suffer from rare diseases.

The burden of Rare disease is high and management is inadequate due to low awareness, facilities to diagnose is meagre, high cost of treatment and non-availability of medicines is the cause of inadequate management. Lack of awareness both among the public and medical professionals, delayed diagnosis, delay in therapy leads to poor prognosis. In addition, lack of preventive screening such as NBS in India is also leading to delayed diagnosis and treatment of treatable causes of disability.

Dr. Radha Rama Devi, Consultant, Sandor Life Sciences Hyderabad and Rainbow Children Hospital, Hyderabad said, “One of the most significant challenges of rare diseases is that they are difficult to diagnose. In some cases, patients may spend years seeing multiple doctors before receiving a proper diagnosis. This delay can have devastating consequences, as early diagnosis and treatment are crucial in preventing or delaying disease progression and improving patient outcomes “.

New parents should also be aware of the importance of newborn screening for rare diseases. Newborn screening is a simple blood test that can identify certain genetic conditions early on, allowing for early intervention and treatment. The test is usually performed within the first few days of a baby’s life, and it can identify conditions such as congenital hypothyroidism, congenital adreal hyperplasia, and sickle cell disease. Newborn screenings reveal the prevalence of rare diseases among the new births, providing an impetus for the policy makers to assign higher priority.

In addition to the benefits of early diagnosis and treatment, raising awareness about rare diseases is also crucial for supporting patients and their families. Many rare diseases are poorly understood by the general public, which can lead to stigma and discrimination for patients and their families. Raising awareness about rare diseases can help reduce stigma and increase understanding and support for those affected.

Rare disease management is not a priority in India. There is no insurance coverage for rare diseases in India. Rare diseases are a significant public health issue that requires increased awareness and attention. Early diagnosis and treatment are crucial for improving patient outcomes, and newborn screening can help identify genetic conditions early on. By working together, healthcare professionals, policymakers, and the public can help support and improve the lives of those affected by rare diseases.