New Delhi [India], Nov 24 : Putting the focus on rare diseases, experts have laid emphasis on ensuring timely treatment for the patients. Although very few people are affected by these disorders, rare diseases are often chronic and severe and make the life of a patient debilitating.
There are around 7000 rare diseases but patients suffering from a particular segment of rare diseases called Lysosomal Storage Disorders (LSDs) like MPS (type I, II, III, IV & VI), Gaucher, Pompe, Fabry, etc. are more likely to lead a incapacitating life.
The good news is that treatment is available for these disorders and if provided on time,
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patients are able to lead a very positive life.
“Enzyme Replacement Therapy (ERT) is the treatment available for some of the LSDs. Unfortunately, the cost of this treatment is exorbitant and hence, majority of the patients cannot afford it. However, ERT has proven to be very effective and timely treatment has helped the patients lead almost normal lives. This makes it vital that treatment is made accessible for all and that it reaches the patients on time so that they are able to fully benefit from it”, said Dr.Sujatha Jagadeesh, HOD, Dept. of Clinical Genetics, Mediscan.
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