80% of rare disease cases are caused by genetic disorders with 30% of cases ending in death before 5 years of age in children.
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Making a diagnosis is the key for every patient with a rare disease to get the right treatment. Treatment of rare disease patients can be given through drugs (orphan drugs) or special foods (orphan food).
“Patients with rare diseases can have a different diet for each disease. One such case is my patient, Gloria, who was diagnosed with Galactosemia Type 1 which caused her body to react negatively when she received lactose. Currently, their growth and development is improving by consuming free amino acid formula milk which is zero galactose, “said Prof. DR. dr. Damayanti Rusli Sjarif, Sp.A (K) in his press statement in Jakarta, Sunday 11/10/2020. .ALSO READ – The Vespa Matik Season, Suzuki Presents the Volatile 2020 Curator
Meanwhile, the Head of the Center for Rare Diseases RSUPN Cipto Mangunkusumo. According to Prof. DR. dr. Damayanti Rusli Sjarif, Sp.A (K), patients with rare diseases in Indonesia still face various obstacles, ranging from the unavailability of comprehensive genetic laboratories for diagnosis, unavailability of medicines to limited costs because they have not been covered by the National Health Insurance.
To be able to make a diagnosis, it costs up to thirteen million rupiah per patient.
“Currently, we have collaborated with many laboratories and hospitals from various countries, one of which is Australia and Taiwan. However, we at RSCM and Human Genetic Research Cluster IMERI FKUI continue to make efforts to develop laboratories so that Indonesia can carry out independent diagnosis, “added Prof. DR. dr. Damayanti Rusli Sjarif, Sp. A (K).
MPS Foundation and Indonesian Rare Diseases, A non-profit organization that aims to help patients with rare diseases gain access to diagnostics and treatment, has been active in assisting the provision of drugs and treatment of patients with rare diseases in Indonesia.
“Today, we are holding a Webinar: We Care for Rare to help educate and raise public awareness of patients with rare diseases. We continue to help strive for the availability of affordable diagnostic access to rare diseases to make a diagnosis so that it can help patients get the right treatment and their families can prevent similar cases from occurring in their next child, “said Peni Utami, Chairman of the MPS and Rare Disease Indonesia Foundation.
This afternoon webinar event was also attended by Afgansyah Reza, who entertained rare disease patients with his sweet voice. “I think that rare is something special that we should embrace because it makes us different but doesn’t necessarily make us less than others. I hope that all rare disease patients in Indonesia will always be healthy and stay enthusiastic, “said Afgan.