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International Rare Disease Day offers ray of hope to LSD patients

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Lysosomal Storage Disorders Support Society made an appeal to seek support from Government of India for the management and treatment of LSDs

Reiterating the need to raise awareness on rare diseases, Lysosomal Storage Disorders Support Society (LSDSS) is observing International Rare Disease Day today for the third time in India. The event was organized by Department of Pediatrics, Seth GSMC, KEM Hospital and LSDSS, to spread understanding amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

More than 100 patients and their families along with the doctors across the nation gathered at Nehru Science Centre to make the event a huge success. The eminent singer Shaan and the famous ventriloquist, Satyajit Padhye came forward to support and motivate the patients suffering from LSDs to overcome their worries and encourage the afflicted kids to stay happy even after such ordeals in life.

During one of the sessions today, LSDSS made an appeal by an open letter addressed to the Hon’ble Prime Minister, Dr. Manmohan Singh. Through this letter patients’ families requested the Government to support the afflicted and save innocent lives.

LSDs occur in about one in 5,000 live births. Due to their rarity, there is lack of awareness about these diseases as well as the treatment options available. Often, LSDs are diagnosed at a stage when they are difficult to manage. Subsequently, the affected child destined to die at a young age. Even if the child is lucky enough to be diagnosed in time, the family of the patient is usually unable to afford the cost of treatment.

Dr Mamta Muranjan, Professor and In-charge of Genetic Clinic, KEM Hospital, Mumbai said, “The theme of this year’s International Rare Disease Day is ‘solidarity’. In fact, the sheer severity of LSDs creates a strong bond amongst patients, their family and doctors. Considering the sad circumstances of these little patients, awareness and support is crucial for treatment of such diseases. Presently in India onus is on physicians, especially the paediatricians, to detect the early symptoms and ensure an accurate diagnosis. An accurate diagnosis is the key for genetic counseling prenatal diagnosis and therapy”

During the event, Vilol – a Gaucher patient- shared the story of his life which highlighted the challenges faced and the struggle his family members had to go through. He said, “I was 3 years old when my disease was diagnosed. My parents’ frequent trips to the doctors, the laboratories and the hospitals showed no results but added to their despair. But the ray of hope came when my father discovered the treatment availability and the management of Gaucher’s disease. Not only that, he was able to get the right treatment free of cost.”

Now Vilol is doing MBA in finance adding to his B.com degree, he breaks the curse and lives on to show the world the power of persistence. Vilol is lucky to be blessed with a free treatment, but there are many other children who are not so lucky. The treatments available for the curable LSDs are beyond the capacity of any common man as not only are the therapies expensive but the patients’ also need to take it at regular intervals lifelong. The only way these patients can be given the gift of a normal life is by Government intervention in supporting their treatment. Lysosomal Storage Disorder Support Society (LSDSS), which is formed by families of children suffering from LSDs, is appealing to societies and Government to step in and help children by sponsoring the treatments to ensure a normal life.

About rare diseases

A disease is termed rare if it affects less than one person in 2,000. Diseases such as Gaucher, Pompe, Fabry, MPS, and suchlike belong to a category of rare diseases called Lysosomal Storage Disorders (LSDs). Because of the rare nature of these conditions, awareness of such diseases in the community is extremely low and few medical professionals specialize in them, making it more difficult for patients seeking medical aid.

About LSDs

Lysosomal Storage Disorders or Diseases (LSDs) are a group of approximately 45 rare genetic disorders that result from defects in the lysosomal function of the cell. Six out of 45 LSDs, namely, Gaucher Type I, Fabry’s disease, Pompe disease, MPS I (Hurler disease), MPS II (Hunterdisease), MPS VI (Maroteaux-Lamy syndrome) are treatable. The incidence of treatable LSDs ranges from 1 in 30,000 to 1 in 400,000 births. LSDs affect mostly children, who often die at a young, unpredictable age, many within a few months or years of birth. Symptoms can include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness. Some patients with LSD have enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally.

About LSD Support Society

The LSD Support Society (LSDSS) is a group comprising people – patients, families and caregivers – who know what it’s like to live with LSDs. LSDSS aims to create a strong voice for LSD patients in India by forming a strong national support group. LSDSS even campaigns for early diagnosis and effective, affordable and safe therapies for LSDs such as Gaucher, MPS, Fabry and Pompe in India. It also strives to provide information and support to all patients, their families and others with interests in related diseases.

 

 

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