On the occasion of the 8th International Rare Disease Day in India, the Lysosomal Storage Disorders Support Society, India (LSDSS), in association with the Paediatric Department of Maulana Azad Medical College (MAMC), brought together experts, patients and their families to spread awareness on rare, genetic disorders known as Lysosomal Storage Disorders and their impact on individual lives.
Lysosomal Storage Disorders (LSDs) are a group of over 50 rare, life threatening, chronically debilitating diseases that occur due to the deficiency of specific enzymes in the body. LSDs mostly occur in children, who often die within a few months or years of birth, after much suffering. These disorders affect multiple organs and cause progressive physical deformity.
The symptoms of LSDs vary from mild to severe, depending on the disorder and variables like the age of onset. These can include developmental delay, movement disorders, seizures, dementia, deafness and blindness, enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly), pulmonary and cardiac problems, and abnormal bone growth.
Speaking on the occasion, Manjit Singh, President, LSD Support Society said, “LSDSS, along with the physicians of MAMC, Lok Nayak Hospital & other major Government Hospitals of India, for over 8 years, has been creating awareness at pan India level about LSDs by means of awareness programs and medical workshops in leading public & private hospitals, In addition, it has been constantly reaching out to the Central & state Governments to create a fund under their Health Budget & under National Health Mission for the 500 odd patients across the country for treatment as well as supportive & rehabilitative care.”
A majority of LSDs are managed by means of supportive care measures that are disease specific. However, LSDs can now be treated by means of Enzyme Replacement Therapies (ERTs). The principle of ERT is to replace specific missing enzymes in LSD patients with in- vitro synthesized functional enzymes. ERT products are administered by intravenous infusion with dosages determined by patient body weight.
Dr Seema Kapoor, Professor Paediatrics and Coordinator of Genetic Unit & Lab, MAMC & LNJP Hospital, Delhi commented, “With current decline in communicable diseases, small family norms and burden of these individual rare disorders, of which LSDs form a large group, really need attention. It is time we start thinking about this group of patients individually and for the family where reproductive counselling is also of paramount importance. We have to break the odyssey of delayed diagnosis, provide comprehensive solutions for treatment and also provide generic counselling.”
Dr JP Kapoor, Director – Family Welfare, praised LSDSS for its initiatives and said, “This is a celebration of life. The kind of courage and motivation these patients and their family members show is worth applaud. We are striving hard in our capacity to make their lives better.”
Dr S Ramji, Dean, Maulana Azad Medical College Delhi commented on the role of parents, “Parents are the best pressure group to move this issue forward. Delhi government has formed a committee to work towards these diseases. The focus should not just be on the treatment alone but also on the rehabilitation and improvement of life in general for the patients. We have requested Central Govt. to allow foreign pharma companies to produce drugs for these rare diseases in India at cheaper rates.”
Ashok Agarwal, Advocate at Delhi High Court said, “Currently 13 cases of patients diagnosed with rare diseases have appealed to the High Court and the Court has directed Employees Insurance Corporation (ESIC) to bear all expenses of enzyme therapy. Patients who need treatment require huge funds and if we get more people registered under ESIC Act then more patients can benefit. This health issue is a state issue under state constitution and we do not have any law in place in right to public health. Public health subject need to be brought under concurrent list; with the next step to bring it under fundamental right section. Then only uniform attention can be given to such problems across country.”
The LSD Support Society (LSDSS) has been formed to support the cause of children and people who know what it’s like to live with rare genetic disorders known as Lysosomal Storage Disorders (LSDs). It aims to create a strong voice for patients with LSDs in India by forming a strong national support group, and has been incorporated as a registered non-profit organization.