Daijiworld Media Network - Bengaluru

Bengaluru, Mar 29: Patients suffering from rare diseases are facing severe difficulties due to delays in receiving timely financial aid and rising treatment costs that exceed the limits set by the central government.

Around 7,000 rare diseases have been identified in the country, but only 5% of them have definitive treatments, while the remaining 95% require lifelong supportive care. To support affected individuals, the ministry of health provides free treatment and medicines up to Rs 50 lac per patient under the revised National Policy for Rare Diseases-2021. However, in most cases, the treatment costs exceed this limit within a short period, pushing families into financial distress.

Late diagnosis, lack of awareness, and limited treatment options make it difficult to identify patients. As a result, only 15,000 people have registered under the Ministry of Health’s database. Since treatment for these diseases requires significant financial resources, the government has also enabled donors to contribute towards patients’ medical expenses through a dedicated portal.

In Karnataka, 308 patients are receiving treatment at the Center for Human Genetics, which operates under the Indira Gandhi Institute of Child Health. However, many of them require financial assistance beyond the sanctioned amount from the health ministry.

12 lac patients affected

Diseases such as haemophilia, thalassemia, Pompe disease, Gaucher disease, and sickle cell anaemia are categorized as rare diseases, most of which are genetic. While the exact number of rare disease patients in Karnataka is unknown, the Center for Human Genetics estimates that around 12 lac people in the state are affected. So far, around 40,000 patients have received treatment at the center.

“My daughter has been diagnosed with Gaucher disease and was receiving treatment at the Center for Human Genetics. However, as financial aid has exceeded its limit, it has become difficult to procure the necessary medication. She requires medication once every 15 days,” said the father of a 12-year-old girl, expressing his distress.

Treatment costs up to Rs 5 crore

"Patients with rare diseases require continuous treatment and medication. The Rs 50 lac aid provided by the central health ministry lasts only six months to a year for a single patient. Currently, more than 300 patients are receiving free treatment under financial aid at the center. However, additional support from donors and corporate contributions is necessary. The treatment cost depends on the type of disease and the patient’s weight. For instance, a 10 kg child requires around Rs 30 lac per year, while for some patients, costs can range from Rs 1 crore to Rs 5 crore," said Dr Meenakshi Bhatt of the Center for Human Genetics.

Shortage of medicines for patients

The Center for Human Genetics procures and distributes medicines using the financial aid allocated by the Ministry of Health. However, irregularities in the supply chain have led to difficulties in medication availability for patients. The center also treats children suffering from rare and fatal genetic disorders like Lysosomal Storage Disorders (LSDs). More than 50 LSD patients have registered at the center, and in some cases, treatment costs have exceeded Rs 50 lac, forcing patients to discontinue therapy.

“The high cost of medicines for these diseases is a major hurdle, causing many patients to stop treatment. As the child grows, the cost of treatment increases further. Some essential medicines need to be imported, making them even more expensive,” said Prasanna Shirol, co-founder of the Indian Organization for Rare Diseases.