Chennai, November 1st, 2022: Sri. Karthi Sivakumar, a long time cause ambassador of Lysosomal Storage Disorders (LSD) – a category of rare diseases – attended the International Gaucher Day event at VHS, Chennai on 1st November organized by the Centre of Excellence for Rare Disorders (CERD), a division of Fetal Care Research Foundation (FCRF) and Sanofi.
Karthi Sivakumar, popular film actor, has been championing the cause of LSD patients since 2011, and empathizes with the families impacted by frequently articulating the plight of patients on prominent public platforms.
The field of rare diseases is complex and heterogeneous and need a sustainable support mechanism for diagnosis as well as treatment. Such diseases are serious, chronic, debilitating and fatal, and often require long term, specialized treatments/management and sometimes causing severe handicap. These conditions specifically impact minors, with nearly 50% of new cases occurring in children, causing 35% of deaths before age 1.
“Gaucher Disease is a treatable rare genetic disorder but the treatment is very expensive. Both the state and central governments have taken it upon themselves to help these children in every possible way but since the load is too large, we should contribute in any way possible towards this cause and help these children have a meaningful and successful life,” said Dr. Sujatha Jagadeesh, Consultant Genetic Disorders, Fetal Care Research Foundation.
Gaucher disease is the most common lysosomal storage disorder, caused by defective levels of lysosomal enzyme, leading to accumulation of glucosylceramide in the body. This results in cell and tissue dysfunction and manifests as liver and spleen enlargement. However, the clinical course of Gaucher disease has been well understood and enzyme replacement therapy is available. The effectiveness of treatment for Gaucher disease (Type 1) is usually determined by assessing hemoglobin concentrations, platelet counts, reductions in spleen and liver volumes and parameters of bone disease.
Many public health providers are often unable to address questions on diagnosis, prognosis, treatment of symptoms or support; and available resources of assistance for children with symptoms of genetic diseases and disorders.
“Every time we observe different days for LSD patients we feel how blessed we are. Our aim should be that no child should suffer from treatable conditions and all of us should take the responsibility of looking into ways and means of providing optimal care for these children,” Sri. Karthi Sivakumar, Actor and Lysosomal Storage Disorder Advocate.
The programme included keynote addresses by Dr. S. Suresh, Managing Trustee, Fetal Care Research Foundation, Dr. Sujatha Jagadeesh, Consultant Genetic Disorders, Fetal Care Research Foundation, Sri. Karunakaran, State Coordinator, Lysosomal Storage Disorder Support Society, Sri. Raja, State Coordinator, Lysosomal Storage Disorder Support Society and Sri. Karthi Sivakumar, Actor and Lysosomal Storage Disorder Advocate. The session closed with interactions between esteemed members of the media and Sri. Karthi Sivakumar.
