The Lysosomal Storage Disorders support Society (LSDSS) has urged the state and central governments to come out with a completely different healthcare policy for treating patients suffering rare genetic disorders.
As LSDs (lysosomal storage disorders) are genetically rare diseases under a completely different healthcare spectrum, LSDSS society feels that the available treatment and diagnostic facilities across the country do not effectively address the needs of people suffering from this life-threatening genetic disorders. The Society urged the state and central governments to come out with a completely different policy to address specific cases of rare quality.
“Since these disorders are rare and the patients few in number, LSD sufferers and their families face hurdles in locating healthcare facilities and support centres that could address their ailment. The Government could therefore consider some scheme to provide free treatment for patients with such disorders,” said, Prasanna Kumar Shirol, president of LSDSS.
In Andhra Pradesh, a number of patients suffer from LSDs but do not have access to treatment. Only government intervention can save these innocent people and help them lead a better and close to normal life. The need of the hour is to receive government support for treatment and supportive care for these patients added Kumar.
LSDs are a group of over 45 rare genetic disorders that occur due to the deficiency of specific enzymes in special compartments (lysosomes) of the cells. LSDs occur in about one in 5,000 live births. A majority of LSDs are managed by means of supportive care measures that are disease specific. However, six of the LSDs can now be treated by means of Enzyme Replacement Therapies (ERTs).
India currently has about 300 to 400 patients, who have been diagnosed with treatable LSDs. Keeping in mind the low awareness levels on LSDs, LSDSS organized this event to create awareness among the general public and decision-makers about rare disorders and its impact on lives of the patients’ and their families.
The main cause of genetic disorders in new born children can be attributed to close blood relation marriages. About 90 per cent cases have been detected and are caused due to marriages in close blood relation groups. The only way to get rid of such genetic disorders is to avoid marriages in close blood relations and spread awareness about the disease among patient organizations, health professionals, researchers, public health entities and individuals who are unaware of this life-threatening disorder.
“One of the major challenges which come in way of treatment of lysosomal storage disorders (LSDs) is low awareness, even among medical practitioners. This causes delay in diagnosis. Delay in diagnosis leads to various complications in these patients. Another issue is that treatment is expensive and beyond reach of common man, hence government support is crucial in financing, supporting and managing these patients,” said Dr Radha Rama Devi, senior consultant paediatrician incharge Genetic Division, Rainbow hospital.
For treating the new born children suffering from LSDs, enzyme replacement therapy is one of the treatments available, but this is highly expensive. For a 10 kg baby diagnosed with LSD disorder it costs Rs.35 to 40 lakhs for enzyme replacement injection which needs to given throughout the life time.
As the treatments are costly and difficult to access there are charity organisations like Genzyme India is providing enzyme replacement therapy to patients with urgent medical needs free of cost.