Saturday, October 17, 2015

National Campaign for rare diseases launched ‘EK PRAYAS’

Logo -15

Victims of Lysosomal Storage Disorders rarely receive adequate medical treatment;
mass awareness and Government intervention are imperative to help such patients

Mumbai, 16th October 2015: Over 70 million Indians suffer from rare diseases. These together constitute about 7,000 different types of health conditions varying from rare forms of cancer and auto-immune disorders to congenital anomalies and infectious diseases. Most of them are difficult to diagnose and treat. Despite a huge prevalence rate, awareness about rare diseases among the masses and medical fraternity is largely non-existent in India, compared to developed nations where legal provisions favour the patients.
In the last 5 years, only 24 patients in Rajasthan have got a confirmed diagnosis of treatable Lysosomal Storage Disorders (LSDs), a rare metabolic disorder. Of these, five children have already lost their lives and many more are suffering from severe medical conditions, as most are not being provided Enzyme Replacement Therapy (ERT), despite the drugs being available in India. Of these 19 patients, 5 are getting ERT under an industry-sponsored compassionate-use program. However, this has its own limitations and is unable to extend the benefits of the therapy to all LSD patients. Moreover, patients of MPS IVA and MPS VI do not get such charitable access. In such a scenario, the only sustainable way for LSD patients to get regular access to treatment is through state healthcare schemes. With Similar conditions in other states of India.  
The priority of the Government lies with more pressing and widespread health challenges, with negligible attention paid to rare diseases. In such a scenario, there is a need for scientists, clinical practitioners, pharmaceutical companies and NGOs, including disease support groups, to join hands and pool resources to highlight the plight of patients of rare diseases.
The incidence of rare diseases is increasing in Rajasthan and the rest of the country. Reasons include minimal research in the area, due to which right diagnosis takes a much longer period, and extremely expensive treatment which is unaffordable to not only the poor but also the middle and upper middle class. Low level of awareness about rare diseases, not only among patients and their families but also among medical practitioners, is the main cause of their delayed diagnosis and treatment. Proper knowledge and understanding of rare diseases among all stakeholders are crucial for their effective management.
Rare genetic diseases such as LSDs are very serious health conditions that are progressive in nature. They give rise to several devastating medical complications in the form of developmental delays, movement disorders, seizures, enlarged liver, enlarged spleen, bone fractures, and lung- and heart-related problems.
Explains Manjit Singh, President, Lysosomal Storage Disorders Support Society (LSDSS), a non-profit organization which raises awareness about LSDs: “The treatment of some of these serious conditions has now become available thanks to medical science, but it is beyond the paying capacity of most patients including the affluent class. In most of the cases that we have seen, the families of rare disease patients cannot afford to give life-saving treatment for their children due to the high cost. Unless the government steps in to bear the financial burden, their future is uncertain.”

LSDs are a group of around 45 rare genetic disorders that are chronic, progressively degenerative and mostly life threatening. They occur due to the deficiency of specific enzymes in special compartments (lysosomes) of body cells. LSDs result in several devastating medical complications.

Government Taskforce
A dedicated Government taskforce would lead to a focused approach based on a realistic study of the scope of the problem and the challenges involved. It would trigger deliberations about the scientific, social and economic aspects of rare diseases by involving various stakeholders, generating valuable inputs for policy making.

Awareness Programs
The Government, the healthcare industry and pharmaceutical firms need to act in tandem to organize public awareness programs, which would help in early diagnosis and initiation of treatment. Effective use of print and social media can help raise awareness levels among the masses and encourage them to go for early diagnosis if, say, a child has an abnormally large liver or multiple skeletal abnormalities.

Data Collection
The policy makers need to collaborate with a group of clinicians to launch a national, population-based data-collection project that would assess the burden of rare diseases, the cost of investigations, and treatment. Such data is essential for policy planning but is unavailable in India.

Make Drugs Cheaper
Categorizing medicines for genetic diseases as life-saving drugs and allowing their duty free import would drastically bring down the cost of treatment. All taxes on medicines of rare diseases should be abolished and they need to be subsidized by the Government. No child should be denied treatment because of unaffordable costs.

Domestic Research and Drug Development
No drugs are currently produced in India for rare diseases. The Government needs to mobilize indigenous research in the area. Considering the costs involved, a public-private partnership model would be an ideal fit for the development of drugs for rare diseases, identifying their pathopsychology and extending the treatment to patients.
The government needs to mobilize the pharma players towards this objective and incentivize them through special benefits and laws similar to the developed world for patenting and marketing.
Budgetary Support for Treatment
The major roadblock in tacking LSDs is the high cost of treatment with biological drugs. A provision needs to be made in the health budget of each state and the central government for the purpose and a mechanism for identifying and selecting patients for state funding has to be put in place as a long-term solution for the challenge of rare diseases.

Health Insurance
The absence of universal healthcare and mass health insurance for all citizens is a huge disadvantage in India. Incorporating LSDs in various national health schemes would enable the administration of ERT on a subsidized basis to the patients by the Government. This would be a life-saving measure for the affected.

Strengthen Medical Infrastructure
Effectively meeting the challenge of rare diseases necessitates a strengthening of the medical infrastructure in terms of the establishment of several regional genetic labs for testing and mandating new-born screening of some rare diseases known for high incidence. The Government needs to encourage research efforts to develop state-of-the-art technology for synthesis of ERT to bring down costs.
The patients would benefit if treatment is made available at a number of designated medical centers countrywide, such as the already existing anti-retroviral therapy centers. The Government also needs to formally recognize the centers of excellence which are giving care for patients of genetic diseases.

Better Diagnostic Facilities
An early diagnosis of rare diseases is crucial for their management. In this context, the availability of essential diagnostic tests such as enzyme assay and lack of standardization of labs is much needed. The diagnostic facilities, though gradually increasing in number, are still limited to prominent urban centres. Where available, they are unaffordable to the masses.

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