This patient needs to pay more to live on | india | Hindustan Times
  • Monday, May 28, 2018
  •   °C  
Today in New Delhi, India
May 28, 2018-Monday
-°C
New Delhi
  • Humidity
    -
  • Wind
    -

This patient needs to pay more to live on

INDIA'S FIRST Fabry Disease patient has been identified at Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGI). But he is struggling against financial constrains for treatment that requires US $80,000 (approximately Rs 36,00,000). A poverty-stricken Prabhat, 13, suffers continuous pain in his limbs and cannot even dream of that big an amount. He is unable to perform even his daily routine and has been in this condition for the last four years. His problem was not even diagnosed till he came to PGI.

india Updated: Mar 13, 2006 01:20 IST

INDIA'S FIRST Fabry Disease patient has been identified at Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGI). But he is struggling against financial constrains for treatment that requires US $80,000 (approximately Rs 36,00,000). A poverty-stricken Prabhat, 13, suffers continuous pain in his limbs and cannot even dream of that big an amount. He is unable to perform even his daily routine and has been in this condition for the last four years. His problem was not even diagnosed till he came to PGI.

“Fabry disease is rare and occurs in one in 20,000 people in the world. This defect is in a gene on the 'X' chromosome and the defect leads to decreased functioning of alpha galactosidase A, the enzyme necessary to remove GL3 from blood. It gets deposited in the blood vessels of the patient causing burning pain in the limbs and later, severe problems like kidney failure,” said Prof Shubha R Phadke, of the Department of Medical Genetics.

These patients, if not treated, are at risk of heart attack and paralysis due to involvement of blood vessels of the heart and brain. Due to vague symptoms like pain in the limbs, most patients' problems are not correctly diagnosed for years.
Dr Phadke says cases of Fabry disease are misdiagnosed as rheumatoid arthritis or gout. Now, over the last few years, a very good treatment is available for these patients.

The enzyme alpha galactosidase A is now manufactured by recombinant DNA technology and is available as a drug-Fabrazyme.

This drug has been shown to be effective in removing GL-3 and thus, ameliorating symptoms of pain and preventing long-term complications of the kidney and heart.

For the treatment this drug (for 3 months) has been now procured free of cost from the company-Genenzyme-under their international charitable access program.

But the cost of the treatment is US $80,000 per year and the treatment has to be continued lifelong, she said. Prabhat is the first diagnosed patient of Fabry disease in India to receive the treatment but financial constraints are restricting him from getting rid of the severe pain. “Now, he needs financial support for continuing the latest treatment. In addition to Prabhat, there is one more case of Fabry disease under follow-up,” said Prof Phadke.

The enzyme therapy for Fabry disease is one of the successes of tremendous amount of research in genetic disorder over the last few decades. This latest DNA technology has brought a smile to the faces of many patients in the world, she said.

Genetic disorder
Fabry's disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. The gene for this disorder is on the 'X' chromosome, so only the mother needs to be a carrier to produce an affected child. Her sons have a 50 per cent chance of having the condition, and her daughters have a 50 per cent chance of being a carrier. Patients with Fabry's disease usually survive into adulthood, but they are at risk for strokes, heart attacks, and kidney damage.