Govt. apathy adds to woes of lysosomal patients

Photo for representational purpose only.

Photo for representational purpose only.   | Photo Credit: AP


‘Exorbitant treatment costs and delayed diagnosis stand in the way of quick recovery’

Patients with treatable rare diseases foot large bills or are compelled to seek alternative means of funding as the government grapples with questions on amassing funds to provide expensive therapy.

Of around 50 lysosomal storage disorders, which are rare genetic diseases characterised by a deficiency of enzymes leading to accumulation of waste within cells, four can be treated well through Enzyme Replacement Therapy (ERT) – Gaucher, Fabry and Pompe diseases, and Mucopolysaccharidosis (MPS) type 1. But exorbitant treatment costs and delayed diagnosis stand in the way of quick recovery, says Sheela Nampoothiri, head of the department of paediatric genetics at Amrita Institute of Medical Sciences (AIMS).

Enzyme replacement therapy, which is repeated every two weeks lifelong, could cost around ₹45 lakh per year for a child weighing 10 kg with Pompe disease. The rates could go up depending on weight but patients have received no support from the government.

Poor awareness

Considering poor awareness even among paediatricians, diagnosis is an ordeal for patients. Shabnam Shaji, a student from Karunagapally, showed symptoms of Pompe disease — weakening of the muscles — a few years before she was finally diagnosed after trips to several hospitals and multiple tests. Early diagnosis and treatment can prevent advanced symptoms like severe anaemia and fractures due to fragile bones, says Dr. Nampoothiri.

After doing the rounds of multiple hospitals which were short of medicines for her condition, Ms. Shaji has been receiving treatment for four years when enzyme manufacturing companies stepped in to plug the funding gap for 16 patients across the State. Thirty-four patients seek treatment for lysosomal storage disorders at the three facilities in the State equipped to provide it — medical colleges in Thiruvananthapuram and Kozhikode, and AIMS, Kochi, says Manoj Manghat, State coordinator, Lysosomal Storage Disorders Support Society (LSDSS). The Society organised a meeting in the city on Saturday to raise awareness on the treatability of Gaucher disease.

The government has been sitting on the Kerala Social Security Mission's (KSSM) proposal to set aside ₹10 crore for treatment of patients with rare diseases, under the mission’s Thalolam scheme that provides free treatment to children with chronic diseases. “Since such a scheme will require recurrent funding for large treatment costs every year, the government is still considering the proposal,” says Diana C. G., regional director, KSSM. While a corpus of funds was to be set up jointly by the Centre and State governments under the National Policy for Treatment of Rare Diseases, the Centre withdrew the policy last year and suspended all activities under it.

Responding to a writ petition filed by the LSDSS, the High Court has asked the State government for steps to meet treatment expenses, in a matter that is yet to be adjudicated.

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Printable version | Dec 9, 2019 1:47:40 PM | https://www.thehindu.com/news/cities/Kochi/govt-apathy-adds-to-woes-of-lysosomal-patients/article29872927.ece

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