Approximately 3.3. crore people in India suffer from rare diseases. February 28 marked the fourth World Rare Disease Day and it is the second year that the day has been observed in India. More than 100 patients and their family members from all over India gathered at the Kamaraj Memorial Hall as part of the programme organised by the LSSD (Lysyosomal Storage Disorders Support Society) and the Fetal Care Research Foundation(FCRF).
Drawing attention to the insufficient research and medical assistance provided to people suffering from rare diseases, S. Suresh, Director, FCRF, said that it is the responsibility of the government and society to help them.
Chief guest V.K. Subburaj, Principal Secretary, Government Health and Family Welfare Department, Govt of Tamil Nadu, said, “The disease might be rare, but considering the population of India, the number of people suffering is more. He emphasised the need for making medical facilities more accessible and pointed towards the steps taken by the government to ensure this.
There is only minimal research in this area and hence the right diagnosis might take a longer period. The treatments are also exorbitantly expensive, which make it inaccessible for many.
“My daughter was diagnosed with Pompe, but she was fortunate to get the right treatment,” said Prasanna Kumar Shirol, President, LSDSS, who shared his personal experience that inspired him to form a support group like LSDSS. “We work on the four point agenda of early diagnosis, access to treatment, genetic counselling and supportive care,” he said.
PARAMESWSAR , XII, Tiruchi: “My aim is to become a computer engineer. I am suffering from Pompe and it is difficult for me to do things on my own. Each time, I have to travel a long distance to get medical assistance. Because of all this, my parents have to go through a lot of trouble. It will be helpful to people like me if medical faculties are made more accessible.”
What's it about?
Rare Disease Day is observed to create awareness about rare diseases and improve access to treatment and medical facilities for individuals suffering from rare diseases. According to the European Organization for Rare Diseases (EURORDIS), treatment for many rare diseases is insufficient, as are the social networks to support individuals with rare diseases and their families. The annual event held on the last day of February is coordinated by EURORDIS with the participation of rare disease national alliances in 25 countries.
Lysosomal Storage Disorder or Diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders caused when a specific organelle on the body cells — the lysosomes — malfunctions. LSDs are one among the 5000 to 8000 rare diseases known.
