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.
What are PIDs
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. PIDs can range from mild forms that can go unnoticed for years, to very severe forms that cause illnesses from the moment the child is born.
To date, doctors say, there is not much awareness about PIDs even in the medical community. Diagnosis is complicated and difficult and treatment staggeringly expensive. 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.
Rare diseases registry
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, who is also the director-in-charge of the National Institute of Immunohaematology, Mumbai.
In April this year, the ICMR put out a proposal for participation in a national registry of rare diseases. A rare disease is defined in India as one that affects fewer than one in 2,500 individuals. “More than 70 million people of India suffer from the plethora of Rare Diseases manifesting in childhood which remain with them throughout their lives,” the proposal said. It includes six categories of diseases, of which PIDs are one.
Number may be high
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. In fact, south India as a region is believed to have a majority of these cases due to consanguinity.
“The problem is, many children do not get diagnosed as having a PID since the symptoms are only recurring infections. Doctors may also not think that it could be a PID,” says Dr. Madkaikar, adding that to help with increasing awareness, ISPID is conducting continuing medical education programmes at eight medical colleges every year, for paediatricians and lab technicians.
Diagnosis involves a number of tests, and treatment is mainly of two types — intravenous immunoglobulin therapy or a bone marrow transplant, both of which are expensive.
For 20-year-old Sathya Narayana from Andhra Pradhesh for instance, treatment costs have rocketed with his age. The B.Tech student was diagnosed with X-linked agammaglobulinemia when he was one. He is under intravenous immunoglobulin (IVIG) therapy, which involves an injection every month that costs ₹30,000. [As it depends on the patient’s weight, the cost varies.] “My parents are struggling to afford the costs,” he says.
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 ₹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 too are expensive, costing around ₹10 lakh for related donor transplants and around ₹30 lakh for unrelated donor transplants, says 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.