When he was three years old, R. Sai Monesh, now seven, was diagnosed with a rare condition: Hemophagocytic lymphohistiocytosis or HLH, a life-threatening condition, in which the body’s immune system cells attack healthy tissue.
“He was constantly ill: he had loose motions, fever and vomiting and at one point was hospitalised for a month with a 108°F temperature,” says his mother, R. Rajeshwari, who works as a domestic help. Six months ago, Sai Monesh underwent a bone marrow transplant at a private hospital in Chennai — his father, a construction worker, was the donor — and is now recovering.
Not much awareness
Sai Monesh’s condition is one of the over 300 types of primary immunodeficiency disorders (PIDs) — conditions that weaken the immune system, leaving patients susceptible to infections and health complications. Many people with PIDs are born with some of the body’s immune defences missing, while some acquire the condition later in life.
To date, doctors say, there is not much awareness about PIDs even in the medical community. India does not have any figures on the number of people affected, though it is estimated that no more than 5% of those afflicted get the right treatment. Now however, the Indian Society for Primary Immune Deficiency (ISPID), set up in 2011, is taking the initiative to help form a national registry of PIDs under the aegis of the Indian Council of Medical Research (ICMR), says its president Manisha Madkaikar.
In April this year, the ICMR put out a proposal for participation in a national registry of rare diseases — those that affect fewer than one in 2,500 individuals. “More than 70 million people of India suffer from the plethora of Rare Diseases,” the proposal said. It includes six categories of diseases, of which PIDs are one. While no data are available for India, doctors suspect the number will likely be higher than the United States figure of 4 in 100,000, due to the large number of consanguineous marriages in the country.
Diagnosis involves a number of tests, and treatment is mainly of two types — intravenous immunoglobulin (IVIG) therapy or a bone marrow transplant, both of which are expensive. The former involves an injection every month that could cost up to Rs. 30,000 every month. A bottle of immunoglobulin requires the collection of plasma from 1,000 blood donors, explains Revathi Raj, paediatric haematologist, Apollo Hospitals, Chennai. “One gram of IVIG costs Rs. 1,500. Patients need 0.4 grams for every kilogram of their weight, which means that the older they become, the more expensive the treatment,” she says. Bone marrow transplants costing around Rs. 10 lakh for related donor transplants and around Rs. 30 lakh for unrelated donor transplants, adds Dr. Raj.
This is the main reason, says Dr. Madkaikar, the registry was important — statistics would help with health-related policymaking, and a push could be made for diagnostic facilities and treatment in government health facilities that are currently unavailable. Sai Monesh was initially seen at a government hospital, but had to be moved to a private facility for further treatment. “Simple tests can be set up in government facilities, and maybe even IVIG therapy can be offered,” says Dr. Madkaikar.
Soumya Swaminathan, Director General, ICMR, says they were hoping to have a network of institutes specialising in a particular type of rare disease in order to collect information for the registry. “One thing that is missing in this country is a good understanding of the genetics of these diseases,” she says. This is important for treatment. For instance, she says, recent molecular techniques such as exome sequencing had led to targeted therapy for PIDs in some cases. The Union Health Ministry had prepared a draft policy of rare diseases that was in the final stages of completion and would be incorporated soon.