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India has no data on how many infants die due to primary immunodeficiency, because many of these deaths get buried in infant mortality statistics.

Missing inner warrior Your child getting too sick too often could be an immune disorderIMAGE ONLY FOR REPRESENTATION
Monday, August 27, 2018 - 08:57

 

Aravind Singh never had a regular childhood. He could not go to school or step outside with his friends to play. He was always sick, and when he wasn’t, his loving parents would not let him step out because they did not want him to get sick again.

His first major treatment at a hospital was when he was just nine months old, after he was brought in with what is casually referred to as just ‘disseminated BCG’, or disseminated mycobacterial infection which happens after a bacillus Calmette-Guerin (BCG) vaccination. It is a rare disorder occurring in children with immunodeficiencies. When a child with no immune system is administered a BCG vaccine, instead of the vaccine protecting the body, it creates the problem.

The first time around, Aravind was administered treatment and sent back. Just about a year later, when he was 2 years old, he returned to the hospital with TB. And again when he was 6, and also when he was 8 years old. Since he was from Assam, his father would bring him all the way to Chennai for treatment.

During his third major hospital admission, doctors at Apollo Hospital realised that he had rare kind of immunodeficiency. “Often, primary physicians are unable to discern the root of the medical issues faced by these children, and that is the reason why Apollo has established an advanced haematology team to treat these children,” says Dr. Revathi Raj, Consultant Paediatric Haematologist at Apollo Cancer Hospital in Chennai.

Aravind Singh with his father

Born without the warrior within

Most of us are born with an immune system, the body’s own defence mechanism to fight against diseases and infections. But in certain rare cases, this system is compromised or non-existent. It leaves us open to external threats, making us fatally vulnerable to even a strain of common cold.

Primary immunodeficiency (PI) diseases are a group of rare disorders which are caused by hereditary or genetic defects, and some of them are present at birth or in early childhood. “It is a serious problem especially in a country like India, where even children with a healthy immune system fall prey to infections,” points out Dr. Revathi.

There is no data on children with these disorders in India, because these infants usually die due to septicaemia or pneumonia even before it is recognised that they had such a disorder, and they are counted under infant mortality statistics. Further, these disorders are high in India due to the high prevalence of consanguineous marriages – marriages within a family – which increases the risk of genetic defects for the child born out of such marriages, the doctor says.

“Now we are trying to create awareness about these PI disorders so that paediatricians become aware that if they see children get repeated unusual infections, then they could have PI disorders,” explains Dr. Revathi. Very few hospitals like Apollo have the knowledge or technology to handle such complicated cases.

Dr. Revathi Raj

Aravindh Singh’s case was even more complicated, and his condition was correctly identified only due to the Human Genome Project.

“Thanks to the Human Genome Project, 30,000 genes that belong to us have been recognized. So, in Aravindh’s case, we found that the gene which helps us find against TB was missing in the child. It is only TB that he is vulnerable to; he can fight all other infections. This is a rare genetic condition,” explains Dr. Revathi, adding that this could not have been identified in several other hospitals in the country.

“Once a diagnosis is made, there is definitely hope,” Dr. Revathi says. After the diagnosis, a bone marrow transplant was done on him and now he is healthy.

Recognising a child with PI disorder

If you are a parent with a child who seems to be getting unwell too often, then doctors advise that you must watch out for common symptoms of PI disorders. Here is a ready list from the Jeffrey Modell Foundation, a public charity devoted to early and precise diagnosis, meaningful treatment and cure for PI disorders.

If both parents and primary care providers such as paediatricians and family physicians are educated about these early warning symptoms and signs, these children can be identified early and with the right treatment (which may include a Bone Marrow Transplant), go on to live normal, healthy and productive lives, just like Aravind Singh.

This article is a part of a partnership series between The News Minute and Apollo Hospitals to bring you latest medical developments and inspiring stories. The article was produced by TNM Marquee in association with Apollo Hospitals.