“The cost of my daughter's treatment is around Rs. 1 crore per annum. If it were not for the aid of a United States-based foundation, I would not be able to help her,” said Prasanna B. Shirol, founder-director, Organisation for Rare Diseases India. His teenage daughter suffers from Pompe Disease, a rare genetic disease that causes muscle weakness and affects mobility as well as breathing.
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At least 7 crore Indians are believed to be suffering from one of the more than 7,000 rare diseases. In Karnataka, experts say that the number is as high as 40 lakh, with many unaware of the condition or unable to receive the correct treatment due to exorbitant drug costs and lack of support.
“There are medicines for a small percentage of these diseases, but they are often not available in India,” said Mr. Shirol.
During the presentation of the 2016-17 State Budget on March 18, the chief minister announced that the diagnosis and treatment of rare diseases identified under the National Health Mission would be proposed under schemes of the Health and Family Welfare Department.
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To address this neglected area of health care, the Karnataka government is planning to frame a policy based on recommendations submitted by the Vision Group for Biotechnology, comprising industry heads and academic leaders. The recommendations include screening newborns for early intervention and specialist clinics to acquire knowledge through research and interaction with patients.
“These children are also a part of society and deserve the same amount of dignity as anyone else,” said Srinivas Bitla, whose 14-year-old son Nihal suffers from Progeria, a disease that causes premature ageing. This is the disease depicted in the Hindi film Paa .
Patients suffering from rare diseases face discrimination at many levels because public health systems and educational institutions are not equipped to deal with their problem.
“Schools are reluctant to admit children with rare diseases,” said Dr. Namitha Kumar, Centre for Health Ecologies and Technology. Herself a thalassemia patient, she was instrumental in preparing the draft framework that was submitted to the National Health Mission by the Vision Group for Biotechnology.
“Often, all that a school needs to do is observe the child's condition and inform the parents if the student becomes sick, but many are unwilling to do this,” said Dr. Kumar.
Many schools are wary of admitting children with rare diseases citing lack of trained staff. There is hope that an inclusive rare disease policy, if implemented, will remedy this and more.
Recommendations in draft framework
Newborn screening | Early intervention
Testing people at increased risk of genetic disease
Easily accessible and effective care pathways, including primary care, regional centres, specialist clinical centres
Inter and intra-disciplinary coordinated care for optimal utilisation of resources
Telemedicine as an option
Specialist clinical centres to acquire knowledge through research, interaction with patients
What the policy hopes to achieve
Prasanna B. Shirol, founder-director, Organisation for Rare Diseases India, feels that Karnataka needs to push for an ‘orphan drug act’, which will put in place a system for support and funding for affordable therapeutic.
Insurance for patients
“Insurance companies in India do not cater to any rare disease, even those with a sizeable patient population like haemophilia,” says Dr. Namitha Kumar. She added that, along with haemophilia and muscular dystrophy, other rare diseases which lead to disabilities should be included in The Right of Persons with Disabilities Bill.
A more streamlined care
Currently, India does not have a standard definition for rare diseases. Experts suggest that a rare disease can be defined as one occurring in 1 in 5,000 persons. “The policy framework is meant to address a neglected area of healthcare, and to incentivise various stakeholders such as healthcare providers, pharmaceutical companies, and providers of various supplements used by patients,” said Vijay Chandru, Director, Centre for Health Ecologies and Technology.