Doctors’ meet focuses on treatment of rare diseases

Namrata Devikar
Saturday, 19 January 2019

According to the doctors, around eight percent of the global population suffers from rare diseases. However, only five per cent get the right treatment. During the discussion, Dr Rajesh Kulkarni said that the cost for treatment and diagnosis of these diseases is very high.

PUNE: Affordable and availability of the treatment in important in rare diseases was the focus from noted doctors during the three day conference on ?Advances in diagnosis and therapies of Inborn Errors of Metabolism (IEMs) organised in the city. During a dedicated panel discussion, various doctors and experts from the field were talking on 'Care for the Rare'.

According to the doctors, around eight percent of the global population suffers from rare diseases. However, only five per cent get the right treatment.

During the discussion, Dr Rajesh Kulkarni said that the cost for treatment and diagnosis of these diseases is very high.

“Availability and affordability is a challenge today. As it (treatment) is not available in public hospitals, this makes it very expensive for patients coming from low-income background. We do have basic tests, but for consistent care, affordability becomes an issue,” said Kulkarni.

He also highlighted that the doctors are now taking interest in knowing more about the rare diseases.

“There is increased interest among medical professionals in training to understand these diseases. These trainings should be short and focused for medical professionals,” said Kulkarni. 

Echoing similar sentiments, Dr Neeraja Gupta said that ensuring one-stop clinics for the patients at tertiary care hospitals is important.

“One-stop clinic does not happen even in tertiary care today, which we need to include. Also, firstly we need supportive care, secondly we need to focus on long-time care. Third important factor is the dietary therapy,” said Dr Gupta,

She further highlighted that as the treatment is expensive, only parents having a fixed insurance of medical plan can help their children.

“This amounts to only 5 to 10 percent of children getting the therapy, as it is very expensive,” said Gupta.

Dr Rajesh Sharma noted during the interaction that the diagnosing of rare diseases in India has improved. However there is a long way to go, he said.

“Some of the testing is done. However, some of the tests are missing. These samples are to be sent abroad, which not only costs money, but also time. We have tried to decrease the cost. The testing is expensive,” noted Dr Sharma.

Vikas Bhatia, who works with Metabolic Disorders and Rare Diseases (MERD), said that right treatment at an early stage is important.

“Some of these rare diseases are treatable. The most important thing is the right treatment at an early age. We have helped more than 70 kids who are doing good because of right diagnosis. We can save a lot of patients if newborn screening is done,” said Bhatia.

Prasanna Shirol, Founder of Organization for Rare Disease India (ORDI) said that there organisation has given complete support system to patients.

“There was been lack of awareness due to which majority of the cases went undiagnosed. So we established a helpline number where patients can call. Also m doctors can take guidance as to how to go about treatment and diagnosis,” said Shirol.

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