A Genetic Answer for a Rare Disease: Southeast Asian Ovalocytosis Case from Indonesia
For many families affected by rare diseases, obtaining a clear diagnosis can become a long and challenging journey. Patients may undergo multiple laboratory tests, specialist consultations, and hospital visits over several months or even years without finding a definitive answer. This uncertainty not only creates emotional stress for families, but can also make clinical management […]
A Genetic Answer for a Rare Disease: Tuberous Sclerosis Complex Case from Indonesia
For many families living with rare diseases, the journey to diagnosis can be long, emotionally exhausting, and filled with uncertainty. Patients may visit multiple specialists, undergo repeated medical examinations, and still struggle to obtain a clear explanation for their symptoms. In many cases, the absence of a definitive diagnosis can delay appropriate treatment and increase […]
