Chennai: A number of rare diseases have started to garner the attention they had not been for many years in the past. Around 80 % of the recorded 450 rare diseases in India are genetic. Among these is Mucopolysaccharidoses (MPS), an acute condition in which the production of a specific enzyme falls short.
Sadly, the government neither provides statistics of the exact disease spread nor the essentially important funds for the treatment.
While both the private and government hospitals treat MPS patients, there is much hope for governmental aid.
"Patients who have submitted the applications are awaiting treatment and are hopeful that the Tamil Nadu government will take necessary steps. Timely diagnosis and treatment can help them lead a near normal life," says M Raja, State Co-ordinator, Lysosomal Storage Disorders Support Society (LSDSS).
Explaining about the disease further, Dr. Sujatha says that for a child to be diagnosed with Mucopolysaccharidoses, both the parents should be carriers of the disease.
“Generally, this occurs when there is a genetic defect within a family and an inter-familial marriage takes place. Therefore, a genetic counselling is important pre-pregnancy," says Dr. Sujatha Jagadeesh, HOD, clinical geneticist, Mediscan in Chennai. Once a child is born, it can be diagnosed with MPS only after six months.
Severe cases of Mucopolysaccharidoses Type I, II and III will cause cognitive dysfunction and managing the child alone becomes a mammoth task.
Type - III MPS is deemed non-treatable while the Enzyme Replacement Therapy (ERT) can treat the other types. In most cases, it requires a lifelong treatment with a patient spending nearly two and half lakhs for treatment per month. Thus, there is a compulsive need for government funds.
