PRABHMOL SINGH loves the sun. Every day, when the 20-year-old wakes up, he hurries through the morning with an eye on the lone chair out on the balcony. As soon as he finishes the last bite of his breakfast, he is out of the door, seated on the chair, face upturned to the sun. He remains seated until it is time for lunch, and then, until the sun sets. “Summer is coming,” he tells me with glee, “Soon I’ll get so much Vitamin D that my bones won’t break.”
The sun was out on 28 February, on International Rare Disease Day. Prabhmol, his 22-year-old brother Anmol, and 498 other children from various parts of the country gathered at Jantar Mantar for a silent march. Onlookers laughed, stared and eventually walked away as the children — some of them in wheelchairs, some carried by their parents — held up signs with the name of their hometown and particular condition: “Chhattisgarh, MPS-2”, “Delhi, Hurler Syndrome”, “Gwalior, Gaucher Type 1”. Each of the children were carriers of a cluster of 45 rare genetic diseases, called Lysosomal Storage Disorders (LSD). They were born normal but barely any of them are expected to make it past 25.
A week after the march, Minister of State for Health and Family Welfare Abu Hasem Khan Choudhury admitted at a Parliament session that India had no countrywide or statewise data on genetic conditions such as LSD, thalassemia or sickle-cell anaemia. The Indian government has no specific strategy for genetic counselling, or for the treatment of those born with genetic diseases. According to the American Medical Association, one in every 3,000-5,000 children in the world is born with one of the 45 types of LSDs. While many countries recommend pre-natal screening, India is yet to include it in the list of diseases doctors advise expecting mothers to test for.
Kamal Singh, Prabhmol and Anmol’s mother, realised there was something wrong with her sons when they stopped growing after the age of eight. They would often catch a cold or get fever, a sign of their rapidly dipping immunity. Anmol soon developed a leakage of the heart valve, and both boys began to get protuberant stomachs, like children suffering from malnutrition. The doctors at AIIMS confirmed that Kamal’s children had a type of LSD called Mucopolysaccharidosis type I, (MPS-1 or Hurler Syndrome) and everything from germs to fractures could prove fatal.
THE SINGH BOYS were fortunate because their disease was diagnosed early. Meryl Sarah, a 23-year-old in New Delhi, was 12 when she discovered, to her surprise, that she was unable to get up from a sitting posture at her Bharatanatyam class. She did not make much of it until a few months later when she could not climb out of bed unassisted. Meryl’s parents took her to their family physician, who misdiagnosed her condition as Limb- Girdle Muscular Dystrophy. Consequently, Meryl was on the wrong medication for four years before her parents finally sent her tests to the US, and found that she was suffering from a rare type of LSD called Pompe disease.
LSDs occur when the lysosome, also known as the “cell’s stomach”, stops functioning and producing enzymes. As a result, cells can no longer break down various fats and proteins, and begin to store waste materials. As this waste material collects, the spleen, heart, lungs, brain and liver enlarge, and the body stops growing. Moderate to severe retardation often accompanies physical symptoms of various LSDs, such as MPS-1 and 2, Gaucher’s Disease and Pompe. Dr Seema Thakur, foetal medicine and genetics specialist at Fortis Hospital, Delhi, believes the incredibly high chance of LSD proving fatal is because of a lack of awareness about the disease as well as the fact that once it appears, the symptoms follow a domino effect, worsening rapidly until the body cannot cope.