Tuesday, September 11, 2012
By Dr Radha Rama Devi
There are certain diseases that are really ‘rare’ and affects only a very small percentage of the population, say less than one in every 2000 people. These diseases are often genetic in nature. Going by India’s 1.21 billion population, it is estimated that nearly 33 million people suffer from such rare disorders. Most of the sufferers are unfortunately children, who face isolation and both emotional and physical pain.
Lysosomal Storage Disoders (Lsd) are one such rare genetic disorder that occurs in approximately one in 5,000 live births in India. They are highly complex, and has a category of over 40 different sub-types. It is an inherited problem where a specific enzyme is prevented from properly cleaning the cells of waste matter. The result: waste accumulates in cell lysosome (the recycle bins of our cells) and interrupt cell function. Slowly, more waste builds up in each lysosome. As the lysosomes swell in size occupying more space within cells, normal cellular function is disrupted and the cells turn dysfunctional and die. This causes numerous clinical symptoms like progressive mental decline of faculties, involving several organs. Most sufferers do not make it to adulthood and perish in their teenage years.
As it is an inherited disorder and it affects multiple organs, diagnosis is difficult and often mistaken for other ailments. Awareness is also very less. The signs of the disease include abnormal facial features, cloudy eyes, purplish blue skin rash, short stature, hearing loss, muscular dysfunction and regression of learned skills.
Today, six out of 40 Lsds such as Gaucher, Pompe, Fabry etc have specific therapies, with some of them treated with enzymes by intravenous infusions. Unfortunately, this is very expensive, costing `3 million or more. A few centres of excellence such as Rainbow Children Hospital Hyderabad, AIIMS New Delhi, Jaslok & KEM (Mumbai), Fetal Care Research Foundation Chennai and Narayana Hrudayalaya Bengaluru do proper diagnosis and treatment of Lsds. The LSD Support Society supports such patients and caregivers. But the government is yet to chip in and give free treatment.
Source: Deccan Chronicle