In order to develop a mechanism for early diagnosis and treatment of rare genetic disorders in children, a proposal has been submitted to the Health Ministry for the allocation of Rs.350 crore through the health budget for setting up dedicated centres of excellence at government healthcare institutions.
The proposal which has been made in consultation with former Health Secretary Keshav Desiraju and renowned Geneticist Dr I C Verma, has suggested the Government to work on a corpus fund to set up such centres of excellence in government healthcare institutions like All India Institute of Medical Sciences (AIIMS), Delhi, Maulana Azad Medical College (MAMC), Delhi, Sir Gangaram Hospital, Delhi and Sanjay Gandhi Post Graduate Institute (SGPGI), Chandigarh.
The Government has also formed an internal committee under the aegis of MAMC, Delhi to formulate a mechanism to treat children with debilitating genetic disorders like Gaucher, MPS, Fabry and Pompe commonly known as lysosomal storage disorders (LSDs). lysosomal storage disorders are a group of over 45 rare genetic disorders that occur due to the deficiency of specific enzymes in special compartments called as lysosomes of cells.
Says Manjit Singh, president, Lysosomal Storage Disorders Support Society (LSDSS), "Low awareness amongst medical practitioners on such disorders results in delayed diagnosis which in turn leads to many avoidable complications in patients. Often, LSDs are diagnosed at a stage when they are difficult to manage and children either die before one year or can survive up to three to five years if diagnosed and put on treatment at the end stage. Besides this, the treatment is not affordable in most of the cases as the cost of treatment ranges from Rs.40 lakhs to Rs.2 crore annually "
Experts pinpoint that dedicated centres need to be set up as LSDs occur in about one in 5,000 live births and its mutation and prognosis has debilitating effects on body organs. A life threatening condition, LSD is characterized by bruising, fatigue, anaemia, low blood platelets, and enlargement of the liver and spleen. A majority of LSDs are managed through supportive care measures that are disease specific. However, six of the LSDs can now be treated through enzyme replacement therapies (ERTs) globally.
"India currently has about 500 patients who have been diagnosed with treatable LSDs. We are also simultaneously pursuing the demand for setting up dedicated centres for such disorders with the state governments of Kerala, Tamil Nadu, Rajasthan, West Bengal, Karnataka and Delhi," informs Singh. The LSD Support Society (LSDSS) is a group comprising patients, families and caregivers which campaigns for early diagnosis and effective, affordable and safe therapies for rare diseases.