科学｜希少難病アレキサンダー病の実態 / Science | The Reality of the Rare Disease Alexander Disease

Summary

Yukari Blumental’s eldest son, Kuno (6 years old), has been diagnosed with Alexander disease, which causes various symptoms due to abnormalities in specific brain cells.

This condition is a rare and difficult disease, with only about 50 cases in Japan and around 500 worldwide. Kuno experienced severe seizure attacks at just 9 months old, which led to his eventual diagnosis. Alexander disease is a genetic disorder that presents a very harsh reality for patients, but the support of family is crucial.

Dialogue

This dialogue is fictional and based on the article.

Log: I heard that Kuno has Alexander disease. I wonder what kind of illness it is?
Chako: Wait, what is Alexander disease!? Does it make you explode!?
Log: No, it doesn’t make you explode, but it’s a disease where abnormal proteins accumulate in the brain.
Chako: Oh, I see. That sounds really serious. Navi, can you tell us more about it?
Navi: Alexander disease is a genetic disorder that causes lesions in specific brain cells, leading to a variety of symptoms. Seizures are one example of those symptoms.

Admin’s Note

This article provided valuable insights into understanding rare diseases through real-life experiences. In particular, the harsh realities faced by children like Kuno-kun highlight the critical need for support from those around them. Chako’s remarks conveyed questions and anxieties about the illness, and I hope they inspire many people to reflect on this disease. I believe it is important to continue sharing such information in the future.