Creation of social awareness about rare diseases was key to bettering the condition of the patients, participants at a seminar and panel discussion held online to mark Rare Disease Day on Sunday observed.
It was organised by the Department of Paediatrics, Government Medical College Hospital (MCH), Kozhikode, New Delhi-based CSIR-Institute of Genomics and Integrative Biology (IGIB), and the Kozhikode chapter of the Indian Academy of Paediatrics (IAP). Mohandas Nair from the MCH, Kozhikode; Shefali Gulati from All-India Institute of Medical Sciences, New Delhi; Vinod Scaria from IGIB; Aman Sharma from the Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab; and Sumita Danda from Christian Medical College and Hospital, Vellore, presented papers.
According to IAP sources, diseases affecting less than one in 5,000 people are called rare diseases, which are around 7,000 in number. Around 75% are genetic disorders. Almost 50% of these affect small children. They said that though most of these diseases were incurable, through early detection their condition could be managed and treatment expense controlled. There were treatments for some of the diseases, but they were expensive, said the IAP sources. If one child in a family is diagnosed with a disease, techniques are now available to prevent other children getting affected, through prenatal detection.
The IAP functionaries said that the genetic clinic functioning at the MCH for the past 15 years was one of its kind in the Malabar region where counselling for parents and children, diagnosis of the disease, treatment, and awareness about pre-natal detection were being done. A PID Clinic for children with congenital immune disorders, endocrinology clinic for those with hormone disorders, and sections to address issues in gastroenterology, nephrology, and heart-related problems, too are functioning there.
