Child PGI, a renowned medical institute in India, is treating a three-year-old child suffering from a rare disease that has never been detected in the country before. The child cannot speak, has frequent seizures, and is far behind in developmental milestones compared to other children of the same age. The doctor treating the child has identified the disorder as a serine metabolic disorder. According to medical experts, this disease is congenital and primarily affects the nervous system due to a deficiency of amino acids caused by the disorder.Child PGIs Role in Treating Rare DiseasesChild PGI has become a beacon of hope for parents of children suffering from rare diseases. In the past year, the Institutes Genetic Department has consulted over 1500 patients suffering from such diseases, including those from Delhi NCR and western Uttar Pradesh. On Rare Disease Day, celebrated every year on the last day of February, people come together to raise awareness about rare diseases and the need for early detection and treatment.How the Three-Year-Old Child was DiagnosedThe childs father, residing in Badarpur, initially believed that the child was suffering from epilepsy due to his frequent seizures. After epilepsy treatment proved ineffective, the doctor referred the child to Dr. Mayank Nilay, a genetic consultant at Child PGI. Dr. Nilay conducted a genetic test, which confirmed the presence of the serine metabolic disorder, a rare disease never before detected in India. The child is currently recovering under the treatment of Dr. Nilay and his team.Other Rare Diseases Being Treated at Child PGIBesides the serine metabolic disorder, Child PGI treats rare diseases such as Progeria, a disease in which a child becomes old in childhood. Three children, including one from Noida, are currently undergoing treatment for this disease. The institutes doctors have collaborated with doctors in America to obtain free medicines for Progeria.Measures to Protect Children from Rare DiseasesMedical experts recommend that couples get tested for common genetic disorders like Thalassemia, SMA, and Fragile X. They also advise informing doctors about any family history of rare diseases during treatment and getting prenatal tests done.ConclusionDiagnosing and treating rare diseases require specialised expertise, and Child PGI has emerged as a leader in this field. Through its Genetic Department, the institute has detected and treated several rare diseases, providing hope to parents and patients alike. Early detection, treatment, and awareness of rare diseases remain crucial in India.
