Katharina Buczek
According to the National Institute of Health, between twenty-five and thirty million Americans live with rare diseases.
While some are genetic and some are uninherited, many patients who live with rare diseases share one thing in common– they suffer for long periods until finally being diagnosed.
A team of researchers at Osaka University in Japan aimed to shed light on this all-too-common patient experience.
Their new study, entitled “Why does it take so long for rare disease patients to get an accurate diagnosis?” underscores how both patients and clinicians must raise their awareness of rare diseases.
One featured patient, named Yuki, suffered from chronic abdomen pain and swelling for twenty years. After two decades, she was diagnosed with hereditary angioedema (HAE) and received successful treatment.
Yuki was thankful to be relieved of pain, but the researchers questioned what delayed her diagnosis for so many years.
Past studies have analyzed diagnostic delays. But, they used a quantitative approach– in other words, just the amount of time taken to reach an accurate diagnosis.
Moeko Isono, the study’s lead author, described how this study went further into patient care.
“We used a qualitative approach. This meant that we could explore why the delays were so long and how the correct diagnosis was finally achieved. We hoped to identify areas that could be improved,” Isono said.
Sign up for Chip Chick’s newsletter and get stories like this delivered to your inbox.
