UNDIP, Semarang (February 27) – The Faculty of Medicine at Universitas Diponegoro held a seminar titled “I Am A MiRAREcle: Rare Disease Day in Semarang.” The event took place in the drg. Gunawan Wibisono, M.Si.Med Auditorium, 5th Floor of the Central Laboratory, Faculty of Medicine UNDIP, as part of the Rare Disease Awareness Day 2025 commemoration. It is observed annually on February 28 to raise awareness and understanding of rare diseases, 80% of which are caused by genetic disorders.
The seminar brought together various stakeholders, including the Dinas Kesehatan Kota Semarang, Dinas Sosial Provinsi Jawa Tengah, Diponegoro National Hospital (RSND), the Indonesian Society of Human Genetics (InaSHG), as well as survivors and families of individuals with rare diseases and other genetic conditions.
The event began with a report from the committee chair, Dr. dr. Agustini Utari, M.Si.Med, Sp.A(K), a genetic expert. The seminar was officially opened by the Vice Dean for Academic Affairs at the Faculty of Medicine UNDIP, Dr. Muflihatul Muniroh, M.Si.Med., Ph.D. Also in attendance was the President of InaSHG, Prof. dr. Gunadi, Ph.D., Sp.BA(K). The seminar was divided into several sessions, starting with an introductory session led by genetic experts from the Faculty of Medicine UNDIP and RSND on the diagnostic challenges (Diagnostic Odyssey) of genetic diseases. Prof. Dr. dr. Tri Indah Winarni, M.Si.Med, PA, explained that most rare diseases are caused by genetic variations or mutations. It can take up to eight years to reach a definitive diagnosis of rare diseases. She emphasized the importance of early diagnosis and the need for more substantial government support for rare disease survivors, as current support is still insufficient.
In the next session, the Cornelia Syndrome Foundation Indonesia shared their experiences in facing rare diseases. Mr. Koko Prabu, Chairman of the Cornelia Syndrome Foundation Indonesia, encouraged individuals with genetic disorders to join the Cornelia Syndrome Community, seek professional help, especially at RSND, and always remain grateful. He emphasized that differences do not mean deficiencies and urged parents to support their children in achieving the best quality of life possible.
The seminar also featured an interactive session discussing access to healthcare services and psychosocial support for rare disease survivors. This session was led by three rare disease survivors: Yuktiasih Proborini, Yeni Endah, and Keanu Al Kautsar Zeroun Nugraha. They shared their journeys, experiences with social stigma, and the support they received from those around them.
Beyond raising public awareness, the event aimed to foster collaboration between institutions, including educational institutions, hospitals, the government, and rare disease survivor communities, to promote the development of more inclusive and sustainable healthcare policies and services for survivors and their families. With the participation of more than 100 rare disease survivors from across Indonesia, the Faculty of Medicine UNDIP hopes that this Rare Disease Awareness Day will serve as a momentum to strengthen public awareness and support networks for survivors and their families.
