Indian Organisation for Rare Diseases (IORD)’s World Rare Disease Day-2020
That’s the takeaway from IORD conference on ‘Raising the Awareness: Prevention of Rare Diseases’ in Hyderabad, India that summed up the World Rare Disease Day-2020 event. Doctors, survivors, expert speakers, healthcare staff, patients’ organisations, RD patients, researchers, policymakers, RD volunteers, parents and students took part in large numbers for IORD’s conference on ‘Raising the Awareness: Prevention of Rare Diseases’ at Indira Priyadarshini Auditorium, Hyderabad, India, on 28 February. While inaugurating the IORD’s conference on World Rare Disease Day, Eatela Rajender, Minister of Medical & Health and Family Welfare, Telangana state reiterated the government’s committed support to the cause of Rare Disease prevention, as it’s known to affect between 6-8% general populations. With most rare diseases linked to the genetic factor, he informed the participants at the packed auditorium that the Telangana state has made available prenatal diagnostic testing facilities at 42 centres for early diagnosis of rare diseases.
Shortly, the Telangana government will also roll out mobile diagnostic prenatal diagnostic testing facilities. Eatela Rajender
While highlighting the issue of consanguineous marriages and its link with rare diseases, he called for systemic social change to tackle its fallout and sought active participation of private players to contribute to the cause of rare disease awareness & prevention. Delivering the keynote address, IORD CEO and President Dr Ramaiah Muthyala, appealed for a special extension of Arogyasri health insurance scheme for patients for an estimated 20-lakh RD patients suffering from rare diseases in Telangana. “The government can actively promote the manufacturing of orphan drugs for rare disease patients by providing incentives to pharmaceutical companies. It should also allow them to take up repurposing of drugs that help rare disease patients find a cure with existing drugs,” he said. In her address, Dr K Gayatri, vice president, IORD, pointed out the role of collective responsibility for prevention and awareness about rare diseases, especially those that have an abnormal genetic link. Representing the Central Drugs Standard Control Organization – the national regulatory body for Indian pharmaceuticals and medical devices – Ms Annam Visala, Deputy Drugs Controller (I), said that a clear definition of what constitutes a rare disease is still eluding in India. « However, under a new regulation, orphan drugs can be manufactured now in India if the disease population is 5 lakh, » he told the delegates. It is significant to note that the classification of any drug as an orphan drug enables pharmaceutical companies to waive off mandatory clinical trials.
KEY EVENT HIGHLIGHTS
- In the run-up to the conference, over 100 children battling various rare diseases showed their sporting spirit by taking part in a series of talent-based activities at Public Gardens before the conference. From quizzing, spot painting competition, bowling, dartboard game, basketball to a game of ring toss, the RD children showcased their talent and romped home with prizes.
- Even when you are a man of science, a rare disease is a great leveller that makes your existing knowledge insufficient to understand it. Former ISRO scientist and University of Hyderabad faculty Dr Syed Maqbool Ahmed narrated his quest & three-year struggle for arriving at the rare disease diagnosis for his daughter through gene sequencing done in Switzerland in 2011 that cost him his job.
- Young inmates from Theresa Divya from Theresa Rehabilitation Centre for Intellectually Challenged proved how rare diseases cannot limit human potential with their wonderfully crafted choreography on stage.
- Dr Srinivas Namineni from Rainbow hospital busted many myths and misconceptions about rare diseases in his enlightening talk.
- Renowned ophthalmologist Dr Muralidhar Ramappa enlightened the delegates about various rare eye diseases and steps needed to be taken for their timely diagnosis.
- Your belief in your dream makes it a reality. You must believe in it because the world needs your dreams. When 27-year-old Harteij Bhartesh realised he had to battle Hodgkin’s lymphoma, he knew exactly what he had to do to come out with flying colours. The Hodgkin’s lymphoma survivor’s documentary, followed by his motivational lecture at the IORD event as to how he fought back and became a long-distance biker, gave the participants an adrenalin rush.
- Everything in life is about perspective. Is the water glass half-full? Yes, it is for Mrs Geeta. Her only child Mihir – on a ventilator for seven years – suffers from four Rare Diseases Severe Giant Hairy Nevus, Neurofibromatosis Type 1, MoyaMoya Syndrome and Kyphoscoliosis. Her inspiring documentary ‘Help Mihir’ showed how she battled the system for her 12-year-old son.
- Expert speakers V. Ramarao, general secretary for Haemophilia Society of India, Hyderabad and Dr Gupta highlighted the rising cost of anti-haemophilic Factor and injection prices for patients suffering from multiple sclerosis respectively. Telangana Muscular Dystrophy chapter too lent their support.
- The volunteers from Hyderabad based Jeedimetla Effluent Treatment Limited (JETL) lent their expertise in organising sports & games for the RD children.
