Experts in the field of rare diseases are of the view that there is a need for early diagnosis of these diseases for proper treatment of the lysosomal storage disorders (LSDs) like Gaucher, MPS, Fabry and Pompe because even though therapies and medicines are available, they are not affordable as the cost of treatment is expensive and ranges from Rs.40, 000 to Rs.2 crore annually.

In order to create awareness about these rare diseases, parents along with their children suffering from LSDs gathered to share their experience and seek financial help at an event organized by the Lysosomal Storage Disorder Support Society (LSDSS) in Mumbai.

Patients suffering from LSDs are few in number (1 in 5000 to 7700), therefore their families have to face many hurdles in locating appropriate healthcare facilities and support centres that can provide them proper treatment and care. Low awareness, even among medical practitioners, results in delayed diagnosis of LSDs, which in turn leads to many avoidable complications in patients. Said Dr Priya Kishnani, Professor of Paediatrics, Division of Medical Genetics, Duke University, US, “The treatment of some of these serious conditions has now become available with advancements in medical science but is beyond the paying capacity of most patients.”

Often, LSDs are diagnosed at a stage when they are difficult to manage. Subsequently, the affected child dies at a young age. Even if the child is lucky enough to be diagnosed in time, the family of the patient is usually unable to afford the cost of treatment. Said Dr Mamta Muranjan, Consultant in Clinical Genetics at PD Hinduja National Hospital and KEM Hospital, Mumbai, “Considering the future prospects of children affected by these genetic disorders, awareness and support is crucial for the treatment of such diseases. Presently in India the onus lies on physicians, especially the paediatricians, to detect the early symptoms and ensure an accurate diagnosis. The physicians must also keep themselves updated about the new therapies emerging for these diseases.”

Appealing to the state government of Maharashtra, Manjit Singh, president, LDSS said, “As treatment of these diseases is very expensive, it is beyond the reach of most of the LSD patients. Only government support can save these people and help them lead a better and close to normal life. The need of the hour is a government scheme to provide free treatment for patients with rare disorders. They are very few in number and it is the duty of the state to provide treatment for them.”

LSDs are a group of over 45 rare genetic disorders that occur due to the deficiency of specific enzymes in special compartments (lysosomes) of cells. LSDs occur in about one in 5,000 live births. A majority of LSDs are managed through supportive care measures that are disease-specific. However, six of the LSDs can now be treated through Enzyme Replacement Therapies (ERTs). India currently has about 300 to 400 patients who have been diagnosed with treatable LSDs.

Present among the patients was the 22-year old Vilol, with his parents, who shared the story of his life which highlighted the challenges faced and the ordeal his family members had to go through. He was 3 years old when he was diagnosed with Gaucher disease caused by a deficiency or absence of an important enzyme called glucocerebrosidase, used to help breakdown a fatty substance in a specific area of certain cells. A life threatening condition, it is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen.

LSDSS is a group comprising patients, families and caregivers which campaigns for early diagnosis and effective, affordable and safe therapies for rare diseases such as Gaucher, MPS, Fabry and Pompe. It also strives to provide information and support to all patients, their families and others with interests in rare diseases.