KOCHI: Dheeshma Sujesh is willing to move heaven and earth to save the life of her daughter, two-year-old Daksha, who is suffering from Pompe disease -- a rare genetic illness. The girl was diagnosed with the disease when she was seven months old. Being able to start treatment early was a great blessing, and provided a ray of hope. Not many, however, are as fortunate as Daksha.
Given that there are over hundreds of rare diseases, and since the cost incurred for their treatment varies from Rs 50 lakh to Rs 1 crore, patients struggle for the right treatment at the right time.“Daksha had an elder brother who had also been diagnosed with the same genetic disorder. He left us when he was only 10 months old. I cannot lose my only child now,” Dheeshma told TNIE.
A housewife from Kannur, she had travelled even during the peak Covid days to AIMS Kochi to ensure that her child’s treatment was not affected. “After every 14 days, she requires treatment. We never stopped the treatment and took every risk and pain to travel and get to the hospital,” Dheeshma said. Treatment of rare diseases, being lifelong, creates challenges in fund allocation for the government. Kerala, however, is one of the few states across India to have started funding support for treatment of children diagnosed with Lysosomal Storage Disorders (LSDs), categorised as a Group 3 disorder.
In September 2020, the state government started the initiative to enrol two toddlers for the life-saving Enzyme Replacement Therapy (ERT) at the Government Medical College in Kozhikode. The infusion therapy was started following an order by a division bench of the Kerala High Court, hearing a writ petition filed by the Lysosomal Storage Disorders Support Society (LSDSS).
“Based on the order, the government has sanctioned Rs50 lakh for the treatment of the two patients. The Centre had already allotted Rs 1.5 crore to the state for providing treatment to deserving children. The Bar Association also pitched in with an assistance of Rs 5 lakh last year,” said Manoj, state coordinator of LSDSS.
Kerala has over 30 patients, mostly children, diagnosed with rare diseases, awaiting treatment and financial aid from the government. A rare disease is a health condition of low prevalence that affects a small number of people. LSDs are rare diseases causing 35 per cent of deaths before age one, 10 per cent between the ages of one and five, and 12 per cent between five and 15 years.
“In my 15 years of experience, I have come across nearly 290 proven common LSD including Gaucher, Pompe diease, and Fabry disease. The main challenge with rare diseases here is that we do not have any statistics or data regarding the patients affected with the disease. Every rare condition differs in prevalence. In some cases, correctly identifying a rare disease takes 5-10 years. We have conducted a study on Fabry disease in India, while collaborating with 10 genetic centres in the country. Fabry disease leads to chronic kidney disease, cardiac wall thickening or hypertrophic cardiomyopathy and stroke in the young. This disease affects males severely and to a lesser extent in females,” said Dr Sheela Nampoothiri, head of Pediatrics Genetics at AIMS Kochi.
The study was conducted amongst 54 patients between the age of 12-65. Patients with Fabry mainly boys present with severe burning sensation of hands and feet as early as 10 years of age. According to the study, 70.3 percent of patients were found with renal impairment. Cardiac involvement and stroke were also detected in the patients.
“More research and identification of rare diseases must be done in the country and awareness should be created in the medical fraternity itself, to correctly identify the diseases at their early stages,” said Dr Sheela.