Playback singer Shaan backs the hope of young patients

Over 50 Children from across state suffering from rare diseases gathered in city today to participate in a rare disease awareness program. The event was organized by the Lysosomal Storage Disorder Support Society (LSDSS). The aim was to create more awareness the public about among rare diseases and seek financial support from the government for the treatment of these debilitating genetic disorders.

The program witnessed a gathering of doctors and young children suffering from extremely rare type of genetic disorders such as Gaucher, MPS, Fabry and Pompe. The treatment of these very serious health conditions has become available with advancements in medical science, but is beyond the paying capacity of most patients. The hope for a better tomorrow triggered tremendous enthusiasm among the children at the event, as eminent singer Shaan came forward to support and motivate the patients suffering from LSDs to overcome their worries and encourage the afflicted kids to stay happy even after such ordeals in life.

Patients suffering from Lysosomal storage Disorders (LSDs) are very few in number in India because of the rarity of these diseases. They and their families have to face many hurdles in locating appropriate healthcare facilities and support centres which 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.

Dr. Priya Kishnani, Professor of Pediatrics, Division of Medical Genetics, Duke University said, “ Patients suffering from Lysosomal storage Disorders (LSDs) are few in number (1 in 5000-7700) therefore their families have to face many hurdles in locating appropriate healthcare facilities and support centres that can provide them proper treatment and care. 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. Moreover, low awareness amongst medical practitioners often results in delayed diagnosis of LSDs and often a diagnostic odyssey lasting several years, which, in turn, leads to many avoidable complications in patients.”

LSDs occur in about one in 5,000 live births. Due to their rarity, there is lack of awareness about these diseases as well as the treatment options available. Often, LSDs are diagnosed at a stage when they are difficult to manage. Subsequently, the affected child destined to die 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.

Dr. Mamta Muranjan, Consultant in Clinical Genetics at PD Hinduja National Hospital & Professor and In-charge of Genetic Clinic, KEM Hospital, Mumbai said, “The sheer severity of LSDs has created a strong emotional bonding amongst patients, their family and the medical community over the years. Considering the future prospects of these little patients, awareness and support is crucial for treatment of such diseases. Presently in India the onus is 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.”

Present among the patients was the 22-year-old Vilol, with his parents, shared the story of his life which highlighted the challenges faced and the struggle his family members had to go through. He was 3 years old when he was diagnosed with Gaucher disease. A disease which is 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. But the ray of hope came when his father discovered the treatment availability and the management of Gaucher’s disease. Not only that, he was able to get the right treatment free of cost.

Talking on the occasion, Vilol’s father said: “I was shattered to know that my child suffered from this rare genetic disorder. Vilol is lucky to be blessed with a free treatment, but there are many other children who are not so lucky. The treatments available for the curable LSDs are beyond the capacity of any common man as not only are the therapies expensive but the patients’ also need to take it at regular intervals lifelong. I urge the government to take immediate action to make treatment available for the patients and help all children with these disorders.”

Lysosomal storage disorders (LSD) 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 300-400 patients who have been diagnosed with treatable LSDs.

Appealing to the state government of Maharashtra, Manjit Singh, President, Lysosomal Storage Disorders Support Society, 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.”