Home / Politics / Policy /  AIIMS struggles to raise funds for rare genetic disorder

New Delhi: Working in her laboratory in a corner of the All India Institute of Medical Sciences (AIIMS), Poonam Gupta goes through a meticulously compiled list of names. The sheet of paper has 70 of them—all victims of an extremely rare genetic disorder known as Von Hippel-Lindau (VHL) syndrome.

The disease is so rare that India’s premier medical institute is struggling to find funds for research to provide the required medical care to the small pool of patients in a country of 1.2 billion people.

It has taken Gupta, a 32-year-old PhD student in the AIIMS department of endocrinology, three years to put that list of 70 names together. Most patients had been referred to AIIMS for treatment of other medical conditions and were detected with VHL purely by chance.

Gupta is engaged in research that will be the first attempt in India at providing a line of treatment for VHL patients based on empirical evidence.

VHL is named after German ophthalmologist Eugen von Hippel and Swedish pathologist Arvid Vilhelm Lindau, who described features of the syndrome in the early 20th century. It affects one in 36,000 individuals, according to Genetics Home Reference, an online database of genetic disorders.

The syndrome is associated with the formation of tumours in many organs. Normally, when a person inhales, oxygen reaches the lungs and is then circulated in the body through red blood cells as they pass through capillaries. In VHL patients, there is an abnormal capillary growth in blood-rich organs, such as the pancreas, heart and liver, constantly signalling a lack of oxygen in the blood. This causes multiple tumours, or little knots of extra capillaries, which could be benign or malignant.

Until recently, India had only one reported case of VHL—Payal Bhattacharya, 32, who was discovered with VHL at the age of three.

“This syndrome is so rare that I, along with the battery of doctors who treated me over the years, believed me to be the only patient in the country," said Bhattacharya.

She manages her condition with the assistance of a battery of doctors from AIIMS, Medanta Medicity, Sir Gangaram Hospital and Arunodaya Deseret Eye Hospital. Tumours have already been removed from her thyroid, left foot, right knee, liver, brain and left forearm in seven surgeries over 20 years.

Funding, right now, is the biggest challenge Bhattacharya faces as she combats drug-resistant tuberculosis of the bones.

“What people don’t understand, scares them," she said. “In my case, there is neither sympathy nor financial support since my disorder is not as common as cancer or HIV/AIDS. I am hoping the AIIMS paper, when published, will help generate some funds for our treatment."

“I might need lifelong medical support, but I can lead a normal life with medicines. So far, I have been generating funds through Facebook, but I need institutional support as my finances are fast dwindling," said Bhattacharya, waiting outside Medanta Medicity for an eye check-up after her vision suddenly deteriorated last week. “Doctors suspect that I have tumours in the eye now due to VHL," she said.

Research on VHL at AIIMS has hit a similar roadblock.

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