More than 200 children from across India suffering from rare diseases gathered at NIMHANS to participate in a silent march on the occasion of the World Rare Disease Day. The event was organised by the Lysosomal Storage Disorder Support Society in association with the Centre for Human Genetics. The aim was to create more awareness among the public about rare diseases and seek financial support from the government for the treatment of these debilitating genetic disorders.
An awareness programme held after the walk witnessed a gathering of doctors and young children suffering from extremely rare type of genetic disorders such as Gaucher, MPS, Fabry and Pompe. The treatment of these very serious health conditions has become available with advancements in medical science, but is beyond the paying capacity of most patients. The hope for a better tomorrow triggered tremendous enthusiasm among the children at the event, as they participated in the Walk holding placards and banners.
Dr Sudhakar K Reddy, Member of Legislative Assembly, Chikkaballapur Constituency, was the Chief Guest at the event. The list of Guests of Honour included names like Prof G Padmanaban, INSA Senior Scientist, Department of Biochemistry, Indian Institute of Science; Dr Mittur N Jagadish, Head – Biotechnology Facilitation Cell, KBITS, Department of IT BT and S&T, Government of Karnataka; Dr R Premalatha, Director, Indira Gandhi Institute of Child Health; and Prof Sharat Chandra, Honorary Director, Centre for Human Genetics.
Patients suffering from Lysosomal storage Disorders (LSDs) are very few in number in India because of the rarity of these diseases. They and their families have to face many hurdles in locating appropriate healthcare facilities and support centres which can provide them proper treatment and care. Low awareness, even among medical practitioners, results in delayed diagnosis of LSDs, which in turn leads to many avoidable complications in patients.
Dr Meenakshi Bhat, Consultant in Clinical Genetics, Centre for Human Genetics, Bangalore, said, “The understanding of LSDs is quite low among healthcare practitioners as most of them are not familiar with the symptoms. This results in misdiagnosis and critical delays in the treatment of patients. Early diagnosis and appropriate treatment where available can ensure a near normal quality of life for them.”
A painting competition was also organised at the NIMHANS Convention Centre where students from the KEN School of Arts captured the emotions of the patients through special artwork.
Present among the patients was the 17-year-old Lavanya, with her parents, standing four-feet tall. Her family first noticed that there was something wrong with her at the age of four years. She could not sit, stand or hold herself like other children during her early years. Five years later, after local consultation and various visits to specialists in Chennai, Lavanya was diagnosed with a rare disease called MPS type 1. This condition leads to excessive protein deposition in the body, caused by the absence or malfunctioning of lysosomal enzymes that are needed to break down carbohydrates. This adversely impacts the growth of bone, cartilage, tendons, cornea, skin and connective tissue.
Talking on the occasion, Lavanya’s mother said, “I was shattered to know that my child suffered from this rare genetic disorder. Moreover, her treatment costs about Rupees 50 to 60 lakhs each year. I urge the government to take immediate action to make treatment available for the patients and help all children with these disorders.”
Lysosomal storage disorders (LSD) are a group of over 45 rare genetic disorders that occur due to the deficiency of specific enzymes in special compartments (lysosomes) of cells. LSDs occur in about one in 5,000 live births. 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). India currently has about 300-400 patients who have been diagnosed with treatable LSDs.
Appealing to the state government of Karnataka, Manjit Singh, President, Lysosomal Storage Disorders Support Society, said, “As treatment of these diseases is very expensive, it is beyond the reach of most of the LSD patients. Only government support can save these people and help them lead a better and close to normal life. The need of the hour is a government scheme to provide free treatment for patients with rare disorders. They are very few in number and it is the duty of the state to provide treatment for them.”
EH News Bureau
