Patients appeal govt to ensure free treatment for the rare diseases

Families of patients’ and doctors come together ahead of International Mucopolysaccharidoses (MPS) Day to appeal to the government to provide free treatment for patients with Lysosomal Storage Disorders (LSDs)

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Bengaluru: To observe international MPS day in Bengaluru, the Lysosomal Storage Disorder Support Society (LSDSS) and the Organization for Rare Diseases in India (ORDI) recently organized a gathering of patients’ and their families. The aim of the event was to appeal to the state government of Karnataka for treatment of patients suffering from LSDs like MPS disease.

Dr Asha Benakappa, Director of Indira Gandhi Institute of Child Health Hospital (IGICH) added, “ On the occasion of MPS Day, as Director of IGICH, I would like to reiterate that we will provide all assistance to this special children and their parents. Government alone can’t do everything as the cost of ERT is exorbitant for each child. Society should come forward and join as a humanity to help and assist these children who are 1 for every 25,000 births.

Dr Meenakshi Bhat, Senior Clinical Genetics Consultant at the Centre for Human Genetics, was present at the gathering to lend her support to the patients and said that “It is very important for days like this to be observed around the country, as they help to increase awareness on the disease amongst the public, doctors and policymakers.”

IMG_7027This is the third gathering of LSDs patients in the city, in 2014 also patients gathered in Freedom Park to urge the State government for treatment. The Government then announced that a special unit of rare diseases to be set up at Indira Gandhi Institute of Child Health (IGICH). The unit will become a medical center for patients with rare diseases for treatment. The budget for the same was passed by the Karnataka Assembly but yet to be implemented.

Mr Prasanna Kumar Shirol, Co- founder, Organization for Rare Diseases in India (ORDI) said “Diagnosis and treatment of rare diseases like MPS is a challenge in country like India. Today many children are suffering without treatment and may be many more not even diagnosed. We have been requesting Karnataka government to form a policy for rare diseases at least at the state level and provide access to treatment for confirmed diagnosed patients before it is too late.”

Patients suffering from LSDs are very few in number because of the rarity of the diseases. The LSDs are important in healthcare since the incidence of LSDs as a group is about 1:5000 births. Low awareness, even amongst medical practitioners, causes a delay in the diagnosis of LSDs. Late diagnosis, in turn, leads to various avoidable complications in patients. It is estimated that approx. 100 patients every year get confirmed diagnosis of treatable LSDs in India. They and their families have to face many hurdles inlocating appropriate healthcare facilities and support centers that can provide them proper treatment and supportive care.

On this occasion, the President of LSDSS society, Mr Manjit Singh said that “MPS Awareness day which augments MPS awareness month till 15th June every year is observed world over to encourage and support children living with these dreaded disorders. Since the incidence rate of MPS disorders is very high in South India due to close blood relation marriages, LSDSS wants people be more aware about the diagnostic tests available to prevent these disorders in future births. The aim is also to sensitize the state government to create a special budget to provide treatment to such children as health is a state specific subject. These small children afflicted with such disorders and despite having physical and mental deformities have come together to show solidarity with 2500 MPS identified children around the world by gathering together.”

He also said thatIndia has about 200 such children and most of them are in Karnataka, Andhra Pradesh, Telangana, Tamil Nadu and Kerala.”

Rare Disease 2 ORDILSDs are a group of over 45 distinct genetic diseases, are RARE, inborn errors of metabolism, each one resulting from a deficiency of a particular enzyme that is involved in the degradation and recycling of cellular waste. LSDs mostly affect children resulting in their unfortunate death at a young and unpredictable age. While many patients succumb to such LSDs within a few months or years of their birth, several other patients die of these diseases following years of suffering from various symptoms of their particular disorder.

Enzyme Replacement Therapy (ERT) for LSDs has been available for over 25 years while the first therapy for an MPS disorder was approved in 2003. In countries like the US and many countries in EU, besides countries in Latin America and Asia, a large number of the eligible patients receive ERTs funded by the state governments or through insurance.

Dr Meenakshi Bhat speaking on this issue said “Individuals who are affected with MPS have multiple medical needs including many types of bone surgeries, respiratory management, hearing and eyesight correction, occupational and physiotherapy and of course definitive treatment with enzyme replacement therapy. It is not possible for the family to bear the costs of treatment without support from governmental agencies. Repeated appeals have been made by these families and members of the LSDSS previously to the government. It is therefore our humble appeal to the government yet again, to recognize the needs of these patients and to make available affordable medical facilities to treat them appropriately.”