Relief eludes rare diseases patients

The state government seems to have turned a blind eye to the needs of patients with rare diseases.

Despite a government order to release funds and high court directions to immediately treat the patients, neither funds nor the drugs have reached the patients.

According to Prasanna Kumar B Shirol, co-founder and executive director, Organisation for Rare Diseases India (ORDI), said two children from Koppal who were registered at the Indira Gandhi Institute of Child Health (IGICH) died a few months ago, as they were not given timely treatment.

"When we approached the state government and the High Court of Karnataka, the government released Rs 4 crore for the treatment of Lysosomal Storage Disease (LSD) for 19 children. We made a request for additional funds and a GO was issued in June 2017, to release Rs 4.14 crore as we had additional patients, but the amount has not reached IGICH till date," he added.

Shirol said that they had 12 new patients and now another 15, but IGICH had discontinued the treatment for all patients on January 20 due
to lack funds and drugs.

Another patient, Raghavendra (26), suffering from Pompe disease which comes under LSDs had moved the high court as he was not able to avail treatment at IGICH, a children's hospital. Pompe disease is a rare autosomal recessive metabolic disorder.

Shirol said the Union government had granted Rs 100 crore
for the treatment of rare diseseas after the National Policy for the Treatment of Rare Diseases came into being in 2017.

Under the policy, the Centre would provide 60% of the funds and the remaining would be borne by the state government. Despite ORDI requesting the state government to provide funds, the same had not come by.

There are around 7,000 types of LSDs and nearly 7 lakh persons are suffering from the rare diseases.

One in 10,000 persons suffers from the rare diseases. There is no treatment available for nearly 90% of the rare diseases and 80% of them are hereditary.

Nearly 50% of them are children and 30% of these do not survive beyond the age of five years.

Shirol said for treating Pompe disease, expensive IV fluids, which are mainly imported, are required. There is an apathy towards treating these ailments as the drugs are very expensive.