Timely treatment of rare diseases essential for patients' quality life

ANI | Updated: Oct 17, 2017 11:44 IST

Chennai (Tamil Nadu) [India], Oct 17 (ANI): Emphasising on the importance of timely treatment for Lysosomal Storage Disorders (LSDs), medical experts urged for concrete steps to be taken in this direction.

LSDs are approximately 50 genetic rare disorders which are caused due to enzyme deficiencies leading to the build-up of toxic substances in the body's cells.

"Patients suffering from LSDs lead a very difficult life and their condition is often debilitating. These are usually chronic and progressive diseases and affect various parts of the body like bones and joints, brain, heart, skeleton etc. The positive side is that treatment is available for a select LSDs and has had a very good impact on the quality of life of a patient. However, getting timely treatment is the key here and leads to better long term results", said Dr. Indrani Suresh, Director, MediScan, Chennai.

Enzyme Replacement Therapy (ERT) is the established treatment for LSDs and works by replacing the missing enzyme in the affected cells. Unfortunately, the treatment is expensive and hence, cannot be afforded by majority of the patients.

Commenting on this, Dr. Sujatha Jagadeesh, HOD, Dept. of Clinical Genetics, MediScan, Chennai said, "Due to the unaffordability, a lot of patients get delayed or no treatment. The lack of timely and appropriate treatment hampers the daily lives of patients making them unable to conduct routine activities. In this regard, measures need to be adopted to ensure that the treatment is accessible for all."

Strong government measures will go a long way for providing treatment for LSD patients. The National Policy for Treatment of Rare Diseases has already been approved and has various recommendations which would make it easier for the patients to get treatment.

Taking cue from this, the onus lies on the Tamil Nadu government and other individual state governments to start providing support to such patients.

"It is imperative that the treatment reaches to all patients in order to ensure that they can lead normal lives. For this, the Tamil Nadu government needs to play a major role. A committee has already been formed which includes government, medical and legal experts to recommend the treatment options and rehabilitative and supportive care for patients. The High Court has also directed that treatment should be initiated for the affected children immediately in government hospitals and genetic centres. The same needs to be done on an immediate basis so that not even one patient goes without treatment in the state" said Senior Advocate, V Ramesh. (ANI)

iocl