On World Rare Disease Day, observed on every last day of February, experts on Sunday stressed on mandatory newborn screening and adequate financial support for control and management of the disease.
There are more than 7,000 diagnosed rare diseases in the world and over 350 million individuals suffer from them, with nearly one-fifth in India. “But, many patients go without being diagnosed accurately or treated on time,” activists in the sector said while calling for a comprehensive policy.
Around 50 percent of the rare diseases are by birth, and the rest are late onset. Only seven of the 450 are treatable diseases, the rest need to be managed.
“We are literally sitting on a ticking time bomb,” Prasanna Shirol, co-founder of the Organisation of Rare Diseases in India (ORDI) said, lamenting that there is no official list of identified rare diseases issued by the Government.
In fact, the national registry announced by Indian Council of Medical Research (ICMR) in 2017, which aimed to cover a set of rare and ultra-rare disorders that are prevalent in India has remained a non-starter till date.
Lack of awareness is the biggest challenge in diagnosing rare diseases, said Shirol, explaining that the average time to identify a rare disease in a patient is seven years.
“What the government believes is utterly contradictory. They ask why should they initiate anything massive for a group which does not have a massive patient burden unlike non-communicable diseases like cancers, but what I say is that to know the real burden it has to make newborn screening mandatory,” he slammed the Government.
Vikas Bhatia from Merd (Metabolic Errors and Rare Diseases) India Foundation echoed similar views saying that in India, the health care priorities are still limited to reducing the Infant Mortality Rate(IMR) and meeting basic infrastructure requirements. “The Government is yet to have a mandatory screening program for newborn babies.”
Though, some States like Kerala and Goa and hospitals like such as SGPGI Lucknow, JK Loan Hospital, Jaipur, have made it mandatory screening for some disorders in the state government health care facilities, it should be uniformly adopted by all the States, said Bhatia.
“Otherwise also, even if it is mandatory or not mandatory, the health of their baby is of utmost important concern of the parents and they do not want to go through any trauma,” he said. “Lastly, screening should be simple, specific, sensitive, cost effective and easy for collection and transport,” he suggested.
Unhappy at the delay in diagnosis, Vijay sappani, chairman of Sappani Foundation for rare disease research and board member of Canadian organization of rare disorders In India, Parvathy Krishnan from Foundation Alliance Manager for Global Genes felt that “this journey is significantly more prolonged due to the unavailability of testing, limited access to specialists, and a lack of understanding of the impact of rare diseases on the patient’s quality of life.
“Early diagnosis can improve avenues for life-saving interventions and therapies in patients with rare disease,” added Oommen C Kurian, head of Health Initiative at ORF, a thinktank. Though the Union Ministry of Health has issued draft National Policy for Rare Diseases 2020 for stakeholder inputs, the activists are not very enthusiastic about it. They rued that the policy embraces a minimalist approach and maintains that healthcare is a State subject.
Early this year, the Delhi High Court had directed the Centre to finalise and operationalise the Policy by March 31, 2021.