Every year February 28 is observed as Rare Disease Day globally to create awareness and its impact on affected individuals and families has these disorders pose or significant morbidity and mortality burden on the society. So far more than 8,000 rare disorders have been diagnosed share your colors is the theme for this year.
Dr Bhawana Dhingra, Pediatrician says that Gaucher disease (GD) is the commonest lysosomal storage disorder (LSD) with an estimated global incidence of 1:40,000 to 1:60,000 live births The underlying defect is a deficiency of acid ?-glucosidase (lysosomal glucocerebrosidase) that results in the accumulation of glucocerebroside in lysosomes.
Glucocerebroside-laden macrophages (Gaucher cells) accumulate throughout the body leading to enlargement of liver and spleen, bone pains bleeding and/or neurologic manifestations. Gaucher disease patients are classified into three broad types based on the presence or absence of neurological manifestations and their severity.
A patient, Archita Gwalvanshi, suffering from Gaucher's disease is under treatment at AIIMS, Bhopal for enzyme replacement therapy. This patients is undergoing the treatment since last one year and AIIIMS, Bhopal is also procuring necessary medicines for her under the compassionate access programme of Pfizercares with support from Lisosomal storage disease support society (LSDSS) as the medicines are exorbitantly priced. She has been receiving this injection for more than a year now and her symptoms have improve considerably.
Recently, a programme was organized to create awareness about rare diseases. The event was attended by a number of patients suffering from rare diseases like muscular dystrophies, skeletal dysplasias, Gaucher's disease and other lysosomal storage disorders.
Lysosomal storage disorder support society (LSDSS) supported this event and its President, Manjeet Singh who has lost two sons to these disorders joined online and shared his experience and his commitment to support such patients in the future as well.
Parents of children affected with these disorders requested the Director AIIMS to get the institute empanelled for enrollment into various trials that have begun in some of the institutes of the country for children affected with disorders like muscular dystrophy and spinal muscular atrophy. Director, Dr Ajai Singh assured the affected families and parents that the institute will leave no stone unturned to provide the best diagnostic and therapeutic options to these affected individuals.
He also called upon the faculty members to work tirelessly to improve services for these patients, bringing out a white paper and initiating a helpline for answering to queries and clarifying doubts and myths related to these disorders.
He also emphasized the need for sensitizing undergraduate and post graduate students early in their career towards these disorders. Dr Rajesh Malik, Dean Academics, emphasized the need for developing innovative and affordable therapeutic options indigenously.
Head of Department, Dr Shikha Malik reiterated the team's commitment to provide state of the art facilities to the affected families.