As the government works on a comprehensive national policy on rare diseases, organisations involved in the sector have urged the Health Ministry to create a "special fund" and exempt the medicines and equipment required for treatment of such conditions from import duties and GST.
While there is no formal definition for a rare genetic disease, global health bodies say it is characterised by three factors -- the total number of people having the disease, its prevalence and the non-availability of treatment.
India currently has over 8,000 patients with rare diseases, including genetic disorders like Hunter syndrome, Gaucher disease and Fabry's disease.
In such diseases, there is a deficiency of one or more of the enzymes located in the cellular organelles known as Lysosomal, resulting in progressive accumulation of the deficient enzyme's substrate and causing clinical manifestation of the condition.
The organisations fighting to sensitise the government towards the seriousness of rare diseases said while the government has special treatment funds for diseases like Hemophilia and Thalassemia, with Rs 1,400 crore and Rs 700 crore earmarked, it has completely ignored the more serious ones like Hunter syndrome, Gaucher disease and Fabry's disease.
According to the health advocacy groups, the monthly treatment cost of such diseases can be anywhere between Rs 10 lakh and Rs 50 lakh.
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Bodies like the Organisation for Rare Diseases in India (ORDI) and the Lysosomal Storage Disorder Support Society of India (LSDSS) claim that they have held talks with subsequent Union health ministers over almost a decade, including Harsh Vardhan, on the need to create a special fund and set up facilities to screen newborns for early diagnosis, but these have yielded no results.
"We have tried our best but disappointment is what we received. The government says that with small number of patients, it cannot give a special focus to it. Does it mean such patients should just not live?" LSDSS president Manjit Singh told PTI.
Currently, 5-12 per cent GST is imposed on the medicines required for therapy used in treatment of rare diseases. Similarly, import duties can go up to 12 per cent, making the medicines beyond the means of most patients.
While the government did not agree to create a special fund, it is mulling the idea of setting up a crowdfunding platform for treatment of rare diseases, which, the health advocacy groups feel, is like mocking on the condition of such patients.
"What crowdfunding? Is this a joke? Crowdfunding for rare diseases when health is a subject on the Concurrent List of the Constitution. Moreover, such high tax on the medicines that actually should have been given exemption from all these," Singh said.
He claimed the government did not even want to set up screening centres for newborns which could have helped in early diagnosis of rare diseases among them.
On an average, only 3-3.5 per cent of the population in India is aware about these diseases.
The number of reported cases of rare genetic diseases have increased over the years, from four to five annually to about the same number every month, according to experts closely monitoring the situation in the country.
According to ORDI, all rare diseases get diagnosed at a much later stage when treatment is not very effective.
Currently, only one in 20 Indian patients with rare genetic diseases gets diagnosed.
In 2017, the National Policy for Treatment of Rare Diseases (NPTRD) was announced by the Indian government with a corpus of Rs 100 crore to provide financial assistance to patients with rare diseases.
However, in November 2018, the Health Ministry put the policy and the corpus amount on hold, saying the focus was on communicable and non-communicable diseases.
It said negotiations were on for a "better policy". The health groups, however, termed this a farce. They claim the ministry was not accepting any recommendations from expert bodies.
Prasanna Shirol, executive director and co-founder of ORDI, said almost half of all rare disease patients in India are children, an important fact that often does not get highlighted enough.
"We urgently need national and state policies that address the unique requirements of the rare disease community and enable them to lead lives of dignity and self-worth," Shirol said.
Doctors said there was also a need for the government to negotiate with the pharmaceutical companies and subsidise the medicines used in rare diseases as they are priced extremely high.
In India, an estimated 26 million babies are born every year. Only two per cent of these babies undergo a 'Neonatal Screening' or 'Newborn Screening'.
The reason of this dismally low rate of newborn screening can be attributed to low levels of awareness among doctors and parents-to-be and their family members alike, the health advocacy groups said.
More than 98 per cent of babies born in India are exposed to the risk of Congenital Hypothyroidism, they claimed.
Congenital malformations and hereditary genetic diseases, being the third-most common cause of mortality in newborns in India, constitute a significant health burden.
Aradhna Dwivedi, a senior pediatrician (genetics) at Delhi's R&R hospital, said due to prohibitive costs, only a handful of patients can afford these treatments.
However, she hopes things change with time.
The World Rare Disease Day is observed on February 29.
Disclaimer: No Business Standard Journalist was involved in creation of this content
