Tamil Actor Karthi Urges Government to Support People with Ultra-Rare Disorders

Lysosomal Storage Disorders (LSD) also known as Ultra-rare disorders are group of nearly 50 rare inherited metabolic disorders caused by lysosomal dysfunction.

Delhi-based Lysosomal Storage Disorder Support Society (LSDSS) organized an awareness event at Bhartiya Vidya Bhavan, Chennai Kendra, on July 8.

Neonatal Screening for Lysosomal Storage Disorders � Is It Necessary?
In a study conducted in Austria, neonatal screening for lysosomal storage disorders detected a higher than expected incidence for the disorders. Fabry’s disease was the most commonly detected disorder

Kollywood actor Karthi Sivakumar, doctors and patients along with their families came together to highlight the challenges and difficulties patients suffering from LSD face throughout their life. They urged the government to take necessary steps to facilitate treatments and to consider solutions that could help manage the high treatment cost of these disorders.

The LSDSS filed an application with the government of Tamil Nadu in May 2014, to provide free treatment to patients suffering from Gaucher, Pompe and MPS disorders.

The LSDSS and affected children and their families have once again urged the government to take note of their plight and initiate steps toward meeting their needs. Another application will soon be submitted to the government seeking early and free treatment for LSD patients.

India Needs a Health Policy for Rare and Genetic Disorders
Karnataka High Court directed the state-run Indira Gandhi Institute of Child Health (IGICH), to provide free treatment to patients suffering from (LSDs).

Dr Sujatha Jagadeesh, Clinical Geneticist and Director, Mediscan said, “Lysosomal Storage Disorders are ultra-rare and there is very little awareness, even among doctors. There is an urgent need for more dialogue around these to build an understanding on their complications. Most patients struggle to afford treatment as the cost involved is very high and increases in proportion to the weight of the patient and is a lifelong expense.”

Actor Karthi Sivakumar, championing the cause of the patients said, “Since so little is understood of these disorders, at least in India, these children and their families have to be brave in the face of great adversity. I urge the government to take notice of these ultra-rare disorders and provide the required facilities and funds to support the treatment for children suffering from lysosomal storage disorders.”

National Pompe Day 1 June 2015: Raising Hopes Through Fund Raising for Research and Gene Therapy
Pompe is a rare, genetically inherited and often fatal lysosomal storage disorder caused by the deficiency of an enzyme, acid alpha-glucosidase.

Over the past 14 years, Fetal Care Research Foundation (FCRF), has been supporting children with MPS and has been running multispecialty clinics, said Dr S.Suresh Mg. Trustee (FCRF). Dr Indrani Suresh, Director MediScan, said, “A large collective effort is required across the country to enhance the quality of life for these children with LSD. The Government needs to do more to increase awareness on LSDs, improve and increase diagnostic facilities and provide funds to support the treatment for children suffering from treatable LSD such as Gaucher, Pompe and MPS. It is our responsibility to ensure that we make these children smile and relieve the stress of the parents by extending our hands of support. I request the community to come forward in this endeavor.”

Thiru Manjit Singh, President, LSDSS said, “In the view of high incidence of Lysosomal Storage- Genetic Disorders in South India, we organize yearly awareness workshops to sensitize people towards recognition of early signs and to opt for early diagnosis. We have advocated with the Government for the last 5 years to create a corpus to support the treatment of children suffering from LSDs. So far, the Tamil Nadu government has not been supportive, but more needs to be done to improve systems to diagnose LSDs, provide treatment and support families of children with LSDs. One important step that the government can take is to set up a diagnostic centre for rare diseases at the Institute of Child Health in association with Genetic department.”