The ultra-rare Lysosomal Storage Disorders (LSDs) have 23 diagnosed and registered patients in Delhi. The disorder has under its umbrella 45-50 diseases. Of these, less than 10 of have treatments available. Medicines, which have to be taken life-long, cost anything from an upward of ₹5 lakh a month.
Irreversible damage
Unaffordable to most, the lack of treatment, medicines and funds has resulted in the loss of nine young lives in the city in past six years. Only eight children are currently under treatment — through court orders and CSR programmes by international pharmaceutical companies. The rest are waiting for their medicines, with each untreated second ensuring their organs sustain irreversible damage.
“Visual impairment, aural impairment and dipping bone density are all part of the process when medicines are delayed. The quality of these children’s lives is compromised only because courts, politicians, and pharmaceutical companies aren’t moving fast enough to save them,” says Manjit Singh, the president of Lysosomal Storage Disorder Support Society (LSDSS). The registered non-profit organisation raises awareness about various life-threatening rare genetic LSDs.
Mr. Singh’s two sons were diagnosed as suffering from Hunter Syndrome. While his younger son passed away — without medicines — at the age of 23 in 2015, his elder son, who is 26-year-old, is still struggling to get medicines.
Red tape
“The fight never ends....Last year, two committees were formed by the Delhi and Central governments to look into providing funds and medicines for people with rare diseases. The help expected from these committees hasn’t come through. Even as our children wait for life-saving medicines, the decisions are stuck in files or caught up in red tape. We as parents want the government to give our children access to treatment and medicines….How can they delay something so urgent?’’ he said.
Mr. Singh added that treatment for LSDs is beyond the reach of most patients. Government support, he said, in terms of funding is imperative to help them lead a normal life.
The Delhi government had formed a committee under the chairmanship of Maulana Azad Medical College dean D. K. Tempe in February 2016 to develop a policy and funding for rare genetic diseases. Another committee was constituted by the Union Health Ministry last year for developing a policy on providing medicines for treatment of rare diseases.
Delhi has 14 known patients suffering from Gaucher’s disease, one of the most common form of LSDs.
Gaucher’s disease is a genetic condition that causes fatty deposits to build up in organs and bones. People with Gaucher’s disease don’t have enough of an important enzyme (glucocerebrosidase) required to breakdown a certain type of fat molecule (glucocerebroside). As a result, cells get filled with undigested fat. This build-up occurs in different parts of the body, primarily liver, spleen and bone marrow.
Insurance companies
Enzyme Replacement Therapy (ERT), the most effective treatment for LSDs is available in India. However, most patients can’t afford the treatment. Unlike developed countries, these treatments are not supported by government or insurance companies, said health experts.
Suneela Thatte of the Indian Society for Clinical Research (ISCR), said: “Challenges pertaining to the diagnosis and treatment of rare diseases are manifold. Lack of awareness and scientific knowledge of rare diseases often leads to wrong or late diagnosis and delayed treatment. There are still no known cures for majority of rare diseases and treatments costs are extremely high, more so in India. Clinical research will help us find better and more effective treatment for rare diseases.”
There are 7,000 known rare diseases today, most of which are progressive, life-threatening and chronically debiting conditions. Of these, 80% are genetic and 50% of rare diseases affect children, most of whom do not live beyond five years.
Besides the many unidentified rare diseases, more rare diseases are being discovered each year. This makes it difficult to peg the exact number of people suffering from rare diseases world over.
“Rare disease patient communities need to come together, create awareness about rare diseases and impress upon the government the need to focus on an Orphan Drug Policy for rare diseases,” said Prasanna Shirol, the co-founder of Organisation for Rare Diseases India (ORDI) and the father of a patient with Pompe Disease.
Government apathy
Advocate Ashok Agarwal said: “The government has to take a stand and be accountable for the lives of patients with rare disorders such as Gaucher’s disease. The rights of these children cannot remain compromised due to apathy and procedural delays. There’s urgent need to shift health subject to the concurrent list, make right to public healthcare a fundamental right and enact a national law on it so that poor patients can approach court whenever treatment is denied to them.”
