Current situation related to Undiagnosed Disease in Japan, based on the patients' viewpoint

There is a word, “NANBYO”, in Japan. "NANBYO" has been in use since the 1950's, and has penetrated the public as a common society's word. Although the NANBYO Law was enacted in 2014 and the definition was finalized, it has been widely used by citizens in a manner beyond its definition even afterwards.

The term of NANBYO includes rare, intractable, and long-term chronic diseases. "International Joint Recommendations to address specific needs of Undiagnosed Rare Disease Patients" announced in October 2016 describes, "We refer to undiagnosed patients as “undiagnosed rare disease patients”. When applied to this idea, it can be said that undiagnosed diseases (UD) patients are included among NANBYO in Japan.

There are few communities of UD patients in Japan. The NANBYO patient groups are often composed of patients and families, and the patient association is composed of these patient groups. There are patient associations for NANBYO, and pediatric NANBYO in Japan. Therefore UD patients are not covered in the current situation.

The IRUD (the Initiative on Rare and Undiagnosed Diseases) program initiated by AMED (Japan Agency for Medical Research and Development) in 2015 has steadily achieved results. IRUD is combining expertise and technology to develop a systematic approach to supporting UD patients. 12 new diseases were discovered through IRUD and gene analysis studies and more than 800 patients who have not been confirmed for many years have been diagnosed within 6 months after registration in the program. We strongly hope that the IRUD will continue the project. On the other hand, because IRUD is a project of doctors and researchers, the degree of penetration of this program in Japan, especially on the patient side, is not yet sufficient. Nonetheless, being widely disseminated may cause people who are not the subjects to come into contact with medical institutions.

ASrid (Advocacy Service for Rare and Intractable Diseases' multi-stakeholders in Japan) is an intermediate organization targeting the rare / intractable disease area. Therefore, we have regularly exchanged and collaborated with various multi-stakeholders, e.g. patients and families. ASrid agreed with international understanding that UD is positioned as part of rare disease. We consulted with the both patient associations, and thereafter became a signatory of this Recommendation from Japan side. ASrid has been participating in the global communities such as UDNI, and also functions as secretariat of RDD Japan (39 official events are hold nationwide in 2018). We have developed information on UD to patients and families at NANBYO forum, and bridged based on individual inquiries.

ASrid is an organization that works beside patients and is also close to the research side. We think that it is useful for organizations that are not limited to disease areas to be in charge of UD inquiries. We heard UD patients feel difficulty to reach the core hospital and therefore they take long time to get accurate diagnosis. We believe that it is worth considering constructing a site where UD patients themselves can pool information separately from medical institution routes. We also believe that these organizations will be beneficial to the UD realm.

In Japan, NANBYO and UD patients are unwilling to actively provide their own information to the public. Therefore, in addition to urging information dissemination of UD patients, I think that it is beneficial to convey the experience of patients who took time to get accurate diagnosis.

ASrid has continued to transmit information to patients and families with RD, NANBYO, and UD. We have also planned to continue dissemination activities to multi-stakeholders through RDD and patient cooperation plans.

Yukiko Nishimura, ASrid, Japan