India's rare genetic disease burden remains hidden as most parents are unaware of the existence of such diseases, say health experts while advocating the mandatory screening of newborns for such disorders in all major public hospitals.
Unless that is done, any policy aimed at reducing rates of rare genetic diseases in India will be ineffective, several experts have warned.
On average, only 3-3.5 per cent of the population in India is aware about the diseases. The number of reported cases of rare genetic diseases have increased over the years, from four to five annually to about the same every month, according to experts who closely have been monitoring the situation in the country.
Radha Ramadevi, consultant at Sandor Life Sciences, Hyderabad, said early screening can also help in lowering expenses of poor patients who have fewer options once the disease is diagnosed at a later stage.
Shashank Tyagi, secretary, Lysosomal Storage Disorders Support Society (LSDSS), agreed.
"Eighty per cent of rare genetic disorder cases in India are children and are extremely difficult to manage. What further adds to the struggle of the patients is the limited number of specialists and service centres along with the inaccessibility to treatment and medication," Tyagi said.
Sumita Danda, head of Clinical Genetics at Christian Medical College and Hospital in Chennai, gave the example of an eight-year-old from Malda in West Bengal to explain her point.
The girl's parents took nearly four years to get the right diagnosis -- their daughter was suffering from Gaucher's disease, a rare genetic disease that manifests with symptoms like anaemia, fatigue, low platelet count, and enlarged spleen and liver. The symptoms are a result of mutations of a gene encoding the enzyme glucocerebrosidase.
The enzyme is part of the cell's housekeeping processes that breaks down complex unwanted cell components such as the large molecule glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide).
Danda explained that the enzyme's absence or low quantity leads to a progressive accumulation of waste within cells, and causes clinical manifestation of the disease.
The young girl's parents consulted general physicians. But it was in vain and for years they believed she was suffering from a temporary dietary issue.
Things took a turn when the girl started having repeated seizures with lack of physical development, compelling the middle-class family to rush to Germany for treatment, where doctors finally diagnosed her with the debilitating Gaucher's Disease, Danda said.
Some experts feel the disease could have been easily diagnosed if hospitals in India had mandatory screening tests for newborns that would identify the problem at a much early stage.
Though a rare disease, reported cases of Gaucher's Disease are on the rise with increased awareness. It now even has a treatment strategy -- Enzyme Replacement Therapy (ERT).
"There certainly is a solution to Gaucher and other rare genetic diseases but is extremely costly. While the government is emphasising on a new policy in coordination with the state governments, things won't be easy until supportive treatment and newborn screening are made mandatory," Danda told PTI.
October was observed as World Gaucher month.
A newborn screening (NBS) test looks for various developmental, genetic and metabolic disorders in infants.
Most of these illnesses are extremely rare, but can be treated if caught early.
According to the Organisation for Rare Diseases in India, the country currently has over 8,000 patients with rare diseases, including genetic disorders like Hunter Syndrome, Gaucher's Disease and Fabry's Disease.
In 2017, the government announced the National Policy for Treatment of Rare Diseases (NPTRD) with a corpus of Rs 100 crore to provide financial assistance for the treatment of rare disease patients.
However, the health ministry put the policy on hold in November last year and negotiations are on for a "better policy".
Apart from screening, Danda said the government also needs to subsidise or find ways to bring down the cost for the treatment.
"Currently, ERT is available as a treatment option but the cost goes up to Rs 1 crore which is unaffordable for every parent of Gaucher or other genetic disorder patients. This needs to be solved," she said.
ERT involves IV infusions to correct the underlying enzyme deficiency that causes rare diseases such as Gaucher, Fabry’s and Hunter Syndrome, she said.
ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version that breaks down glucocerebroside -- the fatty chemical that accumulates in the body of patients with Gaucher, Hunter and Fabry''s disease.
ERT has been approved by the Indian government and Japanese pharma company Takeda has recently launched it in India.
"Gaucher's Disease and other rare genetic diseases are quite prevalent in India but people are not aware. Although, no statistical data is available till date, apart from screening of newborns at the beginning ERT is the only solution at a later stage," said Sandor Life Sciences' Ramadevi.
"The government needs to understand the plight of the patients and act on the pending National Policy Treatment of Rare Diseases (NPTRD), and provide an interim assistance till the NPTRD is implemented," added LSDSS secretary Shashank.