Patients, kin demand a policy on rare disorders

When the daughter of Hyderabad resident Rahul Vipparathi was diagnosed with Tuberous Sclerosis Complex (TSC), a rare genetic disorder causing the growth of numerous benign tumours, it felt like his entire world had come crashing down. As a parent, one is expected to be the anchor during a storm, but the lack of awareness and information about the disorder apart from having a group of people who understood what it’s like to care for a person with a life-threatening affliction left him confused and frustrated.

However, he soon found two other persons in the city to correspond with and exchange insights on disease management. It was at this time that he decided to bring people having TSC and their caretakers under one umbrella and formed the TSC Alliance of India in 2018.

“There are about 3,000 families, hailing from across the nation, connected to our organisation. However, since the number is not substantial, the pharmaceutical and insurance companies and even the government pay no attention to our needs,” Rahul told TNIE.

Many like him lament the absence of a foolproof policy on rare diseases and disorders. They opined that the State neither provides any financial support nor does it take steps to make expensive procedures and medication affordable for patients suffering from rare disorders. The lack of awareness also amplifies their suffering, they opined.

Recently, an awareness run — called the ‘Race for Seven’ — was organised by the Organisation For Rare Disease India (ORDI) in the city to raise awareness about the challenges faced by patients with rare disorders and their caretakers.

In 2021, the Union government launched the National Policy for Rare Diseases which provided one-time financial support of up to Rs 50 lakh for treatment in any of the centres of excellence (CEEs). The Centre for DNA Fingerprinting and Diagnostics in Uppal is one of the eight CEEs. The Nizam’s Institute of Medical Science is the official recordkeeper of the people having rare diseases/disorders in the State. There are about 109 patients registered with NIMS.

The total cost of treatment for each patient ranges between Rs 5 crore to 6 crores. Srilakshmi Nalam, mother of a Spinal Muscular Atrophy (SMA) patient and co-founder of CureSMA, a pan India NGO for SMA patients, said, “The portal has received no donations so far as there is no awareness about any of the rare diseases.”

She added that some SMA drugs cost up to Rs 16 crore and there is no way that patients can afford them as rare diseases are not covered under any insurance. “We have requested officials from the State government to give some assistance to the people with rare disorders. However, no initiative has been taken so far considering that the cost-to-benefit ratio will be low,” she opined.

She suggested that the government can at least establish multi-disciplinary clinics in government hospitals for the better management of people with rare disorders. Taking the example of the Kerala government, which is carrying out free scoliosis surgery for SMA patients, the State government can also make some surgeries free for such patients, she added.