The Department of Pediatrics, AIIMS Bhopal organised several events on the occasion of “Rare Disease Day” on Friday. The purpose of these events was to raise awareness for children suffering with rare diseases among healthcare professionals towards early diagnosis, recognition and management of these disorders to prevent complications. Globally, more than 7000 disorders are categorized as rare disorders, and approximately 350 million individuals are affected by these disorders. India has a high burden of these disorders, and about 1 in 20 individuals in our country suffer from them.
Most of these disorders are incurable, or they require lifelong treatment, which is very expensive and beyond the reach of the common man.
On this occasion, Professor Sarman Singh, the Director of AIIMS, Bhopal, appreciated the special efforts of the department in providing clinical care to children with these diseases, the counseling & support to the parents of children, and the awareness drive initiated by them. Professor Rajesh Malik, Dean Academics, addressed the gathering and stressed the importance of such campaigns and advocacy for rare genetic disorders. Professor Manisha Shrivastava, Medical Superintendent, appreciated the efforts and dedication of the parents of children suffering from these disorders.
Professor Shikha Malik, Head of Department of Pediatrics, stressed the need for sensitization of all levels of healthcare personnel, and the importance of timely diagnosis in such cases.
Dr Bhavna Dhingra, Additional Professor, Department of Pediatrics was the main cooordinator these events. She briefed everyone about the services available at AIIMS, Bhopal for diagnosis and management of individuals with rare disorders. She informed that AIIMS Bhopal is running a once a week Genetic clinic for such children and that three faculty members have recently completed their training to facilitate the establishment of Advanced Genetic Diagnostics Facility at the Institute.
This facility will enable AIIMS, Bhopal to function as a centre of excellence for diagnosis and management of such conditions, specially since currently there is no such facility in Central India.
The facilities for Newborn Screening for metabolic disorders and Hemoglobinopathies would also be soon made operational. The event was supported by Lysosomal Storage Disease Support Society, which was represented by Shri Manjit Singh, who lost two sons due to a rare disorder known as Mucopolysaccharidosis. He briefed the gathering about the importance of counselling, providing support to affected families and the role of support groups in caring for these individuals.
