Chennai: Pawan Kumar (12) has an abnormally enlarged liver and spleen, skeletal abnormalities and weakened bones. He suffers from Gaucher Disease, a kind of Lysosomal Storage Disorder (LSD) caused by a deficiency of the enzyme glucocerebrosidase.
The boy, who is receiving Enzyme Replacement Therapy (ERT) under the Charitable Access Program of a US company, has been lucky unlike many other children with the disorder unable to receive any treatment, as they cannot afford the cost of ERT.
Most children with this disorder do not reach adulthood due to the lack of diagnosis and availability of approved therapies. A number of patients die in the absence of availability of timely treatment, while some others struggle due to the lack of funds for the treatment, which ranges between '45 lakh and '3 crore each month.
With this in mind, the Lysosomal Storage Disorder Support Society has made an appeal to the state government for the treatment of the rare diseases in Tamil Nadu.
“Every person has the right to basic health and well-being and the Government has a major role to play in ensuring basic healthcare for all. Since health is a state subject, we insist that the Chief Minister of the state help create a corpus fund to support the medication of children suffering from LSDs,” said Manjit Singh, president, Lysosomal Storage Disorder Support Society.
With the Karnataka high court having only recently passed an order offering support to patients suffering from the rare disorders, members of the group in Tamil Nadu made a plea to the government to offer support here as well.
“Genetic diseases are not perceived as having enough importance to allocate resources to establish genetic services easily accessible.
The Government needs to formally recognise centres, which provide care for these patients. A lab support system for high-end testing is also the need of the hour. The newborn screening is becoming popular with the masses and we need to create a public mechanism to follow up screen positive cases of some of the rare diseases with high incidence,” said Dr Sujatha Jagadeesh, Consultant, Clinical Genetics, MediScan.
