'Rare disease' cases get little help from govt
Percentage of patients in India higher than world average
Meryl Sarah was 11 when she first faced trouble getting up from bed.
After years of incorrect diagnosis and ineffective treatment, in 2011 it was found that she suffered from an enzyme deficiency causing acute muscle weakness. She is 21 now.
Pompe, Sarah's disease, is one of the rare diseases recognised by the World Health Organisation. Out of 45 disorders, clubbed under the name of Lysosomal Storage Disorders (LSDs), Pompe is one of the six that can be treated.
But the Rare Disease Day, observed on the last day of every February, will not bring any happiness to her.
She will continue to live a life of dependence even for carrying out her routine activities.With high cost of treatment and no support from the government, patients cannot avail benefits of the latest technology available in other countries.
"If diagnosed and treated in time, patients can lead a normal life. But in our country no mechanism exists to make lives of these children better. Government hospitals do not treat them, said Prasanna Shirol, president, Lysosomal Storage Disorder Support Society.
We want the government to provide help to these children," added Shirol. He said that the incidence of rare diseases is increasing in the country and we expect the government to act.Twenty-year-old Shashank Tyagi of Ghaziabad was diagnosed with Gaucher Type-1, an LSD in which his liver enlarged disproportionately and he faced severe fatigue coupled with anaemia and low blood pressure.
He was helped by a global charity to buy medicines, and treated in Vellore, Tamil Nadu. He now leads a life of a normal college student.
“The treatment is enzyme replacement therapy (ERT) in which the cost differs depending on age and the disease type. But the minimum would be Rs 2 lakh per month and it is a lifelong thing, essential for survival" said Dr A P Dubey, head, paediatrics, Lok Nayak Hospital (LNJP).
Experts say world-over one out of nearly 10 thousand children suffer from one or the other type of LSD, and one out of one lakh from Pompe.
“We do not have India-specific data. But the percentage of cases in India will be higher than the world average due to malnutrition,” said Dr Seema Kapoor, in-charge, division of genetics,
Also, in India people marry within blood relations and same castes which increases the possibility of occurrence of LSD in their children.
Almost all the cases of rare diseases we receive in paediatrics department are genetic disorders," Kapoor added.
LNJP's paediatrics department receives 10 new cases per year of LSD and two to three per week of all rare disorders combined. The percentage of people diagnosed with these diseases is low in India as compared to western countries because the cases of communicable diseases are plenty.
“But with increasing awareness and detection rates, now we have more number of diagnosed cases," said Kapoor.