Fighting the odds2 min read . Updated: 27 Feb 2012, 09:05 PM IST
Fighting the odds
Any disease is a harrowing experience but with a rare disease, the odds get stacked against the patient far too much. Right from diagnosis to treatment, everything is rough, and the lack of understanding about the disease makes it even tougher," says Prasanna Kumar B. Shirol, founder president, LSD Support Society of India (www.lsdss.org). Lysosomal storage disorders (LSDs) are a group of approximately 40 inherited metabolic disorders that are considered rare diseases. A rare disease, also referred to as an orphan disease, is one that affects a small percentage of the population. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular group of people, but may still be common in another.
Patients with rare diseases and their families are particularly isolated and vulnerable. But now they too have some hope. “Some empathy is definitely called for, for patients who suffer from rare diseases and demarking a ‘Rare Disease Day’ (29 February) is definitely a step in the right direction," says Shirol. He should know as his 12-year-old daughter suffers from Pompe Disease (a lysosomal storage disorder).
Around this time he was lucky to meet clinical geneticist Sumita Danda, who is a specialist in rare diseases. She helped him organize and secure a sponsorship for enzyme replacement therapy and he has been feeling better since.
LSDs occur when lysosome organelles in cells malfunction. “The lysosome in each cell is responsible for clearing the cellular wastes which are by-products of metabolism that happens in the cells. So when enzymes are missing or available in less quantity then these disorders occur," explains Sujatha Jagadeesh, consultant geneticist and dysmorphologist, Fetal Care Research Foundation (FCRF), MediScan, Chennai.
Like other genetic diseases, LSDs are inherited from parents and due to the involvement of multiple organs, these are often mistaken for other disorders and thus diagnosis becomes difficult. According to Dr Jagadeesh, “Careful screening is imperative."
A majority of LSDs are managed by means of supportive care measures (symptom relief) that are disease-specific. Currently, there are around 8-10 centres in India for the management, treatment and diagnosis of LSDs (AIIMS and Sir Ganga Ram Hospital in New Delhi; KEM in Mumbai; and FCRF in Chennai). Treatment costs are exorbitant though, ranging approximately from ₹ 20 lakh to ₹ 1.5 crore per year, depending on the therapy. The treatment is usually lifelong. Enzyme therapy cannot undo the damage already done but can stop further deterioration, hence early diagnosis is important.
The LSD Support Society of India in Bangalore is the first national parent support group for LSDs; it is made up of people who know what it’s like to live with a rare disease. The society tracks worldwide research into the causes, treatment and management of these diseases. It also arranges, coordinates and tries to increase the help and facilities available for diagnosis, consultation and treatment of those suffering from these diseases.
“The observance of Rare Disease Day not just helps raise awareness but also gives a lot of solace and hope to patients and their parents as they meet similar parents and also interact with geneticists," says Shirol.
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