Providing timely treatment to rare disease patients is need of the hour

New Delhi  : 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 and 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, 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.

Commenting on the positive impact of timely treatment, Raja, father of 16-year-old Gaucher patient, Akash, said, "Akash was two



when we observed that his stomach was getting bigger day by day. For this, we visited different doctors but the real cause of his problem could not be detected. After much struggle, he was detected to be having Gaucher. Luckily, he was selected for a company's Compassionate Access Program and he was able to receive timely treatment. With the treatment, Akash is able to go to a regular school and is also taking food every two hours. He is taking ERT once in every 14 days and is now not suffering from any ailment or pain." Akash is the first child in Tamil Nadu to get treatment for Gaucher.

The need of the hour, thus, is to actively implement measures for furthering timely diagnosis and treatment of rare diseases. In this regard, the Tamil Nadu High Court had recently directed the government to form a committee which would be responsible to assess the effectiveness of the available treatment and kind of treatment and care available for patients in the State.

On this development, Advocate V Ramesh said, "The Tamil Nadu High Court has taken a very encouraging step in order to provide relief to rare disease patients. The committee would definitely help the patients. It was also directed that the government should start providing treatment to the patients free of to ensure that the patients get relief on an immediate basis. This would help the patients immensely."