Patients with rare and intractable diseases face unique challenges compared to those with common diseases such as diabetes, hypertension, and cancer, due to the rarity of their conditions. Patients with rare and intractable diseases often undergo various tests at multiple hospitals, and it is not uncommon for them to spend many years before receiving a definitive diagnosis (diagnostic odyssey). Unfortunately, even after receiving a final definitive diagnosis, the absence of curative treatments often requires long-term care, leading to significant financial burdens. In the workplace and schools, it is difficult for patients to gain an understanding of their condition or establish patient support groups in their communities because there are typically very few others with the same disease and similar experiences.

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Rare Disease Measures

  • Jiro Ezaki,
  • Dacia Marquez,
  • Shoichi Maeda,
  • Taisuke Izumi

摘要

Patients with rare and intractable diseases face unique challenges compared to those with common diseases such as diabetes, hypertension, and cancer, due to the rarity of their conditions. Patients with rare and intractable diseases often undergo various tests at multiple hospitals, and it is not uncommon for them to spend many years before receiving a definitive diagnosis (diagnostic odyssey). Unfortunately, even after receiving a final definitive diagnosis, the absence of curative treatments often requires long-term care, leading to significant financial burdens. In the workplace and schools, it is difficult for patients to gain an understanding of their condition or establish patient support groups in their communities because there are typically very few others with the same disease and similar experiences.