Since the diagnosis, on an average, the parents have been spending close to ₹50,000 every month and Palaash has now been advised to undergo surgery that will cost close to ₹20 lakh.

Four-year old Palaash was detected with a rare genetic abnormality – ANO3, resulting in a condition called progressive primary dystonia- a movement disorder at the age of one (HT Photo).

Mumbai Struggling to gather funds to treat their four-year-old son diagnosed with a rare genetic disorder, Andheri residents Pooja (35) and Atirath Bagarka (37), have sought help from the Organisation for Rare Diseases India (ORDI), a national umbrella body representing the collective voice of all patients with rare diseases in India.

Four-year old Palaash was detected with a rare genetic abnormality – ANO3, resulting in a condition called progressive primary dystonia- a movement disorder at the age of one. According to his treating doctor- Dr Anaita Hegde, paediatric neurologist, SRCC Hospital-Haji Ali, he is one of the handful of the reported cases in the world.

Since the diagnosis, on an average, the parents have been spending close to ₹50,000 every month and Palaash has now been advised to undergo surgery that will cost close to ₹20 lakh.

Prasanna Kumar Shirol, co-founder and executive director of ORDI, said that the struggle for parents with children diagnosed with rare diseases is both emotional and financial.

“Very rare, a family manages with the treatment funds. In some rare diseases, the treatment is life-long and the cost can be in crores. Like in this case, parents of children with rare diseases are always dependent on crowd-funding to meet the treatment cost,” he said.

Shirol, who founded ORDI in 2014, said that helping such parents has been one of their many focus areas. “Our support group helps the parents find the right doctor too. By the time they connect with us, they have a history of visiting many doctors. If they are still not convinced with the diagnosis and ask for our help, we geographically map them to the nearest doctor,” he said.

Shirol said that the group also provides psychological and social support apart from helping the family find ways to gather funds for the treatment. “After going through the doctor’s letter and medical records, we first check the family’s financial status and accordingly, we decide on crowd-funding. Many a time, a private firm, on their corporate social responsibility (CSR) activities, agrees to fund the treatment. We otherwise approach private crowd-funding which may take time,” said Shirol.

He said the support group also checks on possible clinical trials that the rare disease patients can get benefitted from.

Shital Bhatkar, ORDI’s Mumbai coordinator, who lost her seven-year-old son to a storage disorder- categorised among the rare diseases, said in some cases, the medicines are so expensive that even a higher middle-class family can’t afford them. “We approach pharma companies who give medicines on a clinical trial basis. We also approach the government to fund their treatment too,” she said.

Dr Hegde said that Palaash may benefit from deep brain stimulation surgery which has been tried in three cases like him so far and has shown good results. “We have discussed the case with doctors in the US and Australia and both said it is worth a try. Parents are keen as the child is withering away in front of their eyes. They can’t feed him or make him sit up anymore,” she said.