Rare Diseases day was observed on 27th February to raise awareness about rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.
Addressing a press meet Padma Shi Awardees, Dr A Marthanda Pillai and Dr K K Aggarwal; National President and Honorary Secretary General IMA, said that rare diseases does not mean they should be rarely read.
A Supreme Court Judgment (appeal 2867 of 2012) quoted "Finally, we hope and believe that the institutions and individuals providing medical services to the public at large educate and update themselves about any new medical discipline and rare diseases so as to avoid tragedies such as the instant case where a valuable life could have been saved with a little more awareness and wisdom from the part of the doctors and the Hospital. "
IMA has advised the medical students not to ignore reading about rare disease and the practicing doctors to update their knowledge about rare diseases.
IMA wants separate budget for the same In two recent high court judgments, the court had said "....on account of lack of Government planning, there is ‘pricing out’ of orphan drugs for rare and chronic diseases, like Gaucher. The enzyme replacement therapy is so expensive that there is a breach of constitutional obligation of the Government to provide medical aid on fair, reasonable, equitable and affordable basis. By their inaction, the Central and the State Governments have violated Articles 14 and 21 of the Constitution.
• "... Just because someone is poor, the State cannot allow him to die. In fact, Government is bound to ensure that poor and vulnerable sections of society have access to treatment for rare and chronic diseases........"
• ".............After all, health is not a luxury and should not be the sole possession of a privileged few."
The court also took serious note of the limited availability of affordable treatment for persons with neglected diseases like Haemophillia and ensured that the State Government provide treatment free of cost, as part of its obligation under Article 21 of the Constitution of India.
Some of the rare disease
Amyotrophic Lateral Sclerosis; Cystic Fibrosis; Ebstein Anomaly; Factor XII Deficiency; Fanconi Anemia; Friedreich Ataxia; Gaucher Disease; Hirschsprung Disease; Huntington Disease; Multiple Endocrine Neoplasia Type 1; Tourette Syndrome; Wegener Granulomatosis; Weil Disease; Zollinger-Ellison Syndrome; von Willebrand Diseases etc.