Children With Rare Genetic Disorders to Appeal to PM for Financial Help

A group of 100 children suffering from rare genetic disorders carried out a silent march in New Delhi.

In a desperate bid to gain financial assistance and better treatment facilities from the government, a group of 100 children suffering from rare genetic disorders carried out a silent march in New Delhi.

Children suffering from Lysosomal Storage Disorders (LSDs), a group of around 45 rare genetic disorders of which five are treatable, participated in the march at Jantar Mantar.

Epigenetics
In the recent years ‘epigenetics’ represents inheritable changes in gene expression that do not include DNA alterations.

According to sufferers, due to lack of funds and government aid, even those children whose disease can be treated, continue to suffer as their families are not able to bear the cost of the treatment.

"I know my son can lead a better life, if not a normal one, provided he is treated on time," said Raj Kumar Yadav, a farmer from Bihar, whose six-year-old son was diagnosed with LSD three years ago.

Some participants complained that delayed treatment made the disease incurable in their case and they don't want this to happen to other patients in nascent stage.

Importance of Health Screening Tests
Health screening, along with a healthy diet and exercise, is necessary for good health and a higher quality of life.

"Due to ignorance, my family members did not consult a doctor before I was 16, and they noticed that my growth had stunted," said Dharmendra.

"When I met the doctors at AIIMS here, they took around two years to conduct tests only to say that there is no treatment for my disease. I don't want that to happen to my brother, who is also suffering from the same diseases but is in nascent stage," added Dharmendra.

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About Genetic Testing
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques

Sib Shankar Chowdhury, secretary, Lysosomal Storage Disorder Support Society, an NGO that works towards the betterment of such children, said despite detection of the disease, these people are not getting timely treatment.

"These families are now at crossroads. Even after the detection of the disease, they are unable to do anything. In fact, due to lack of timely treatment, a few children have even succumbed to death. Only government support can save them now," he said.