New Study Sheds Light On How Patients Living With Rare Diseases Often Go Undiagnosed For Long Periods Of Time
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.
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Additionally, in an effort to narrow their focus, the researchers specifically analyzed patients diagnosed with hereditary angioedema.
Hereditary angioedema (HAE) is “a disease characterized by recurrent episodes of severe swelling of the skin and mucous membranes,” according to the National Institute of Health.
Patients affected by this particular disease notoriously suffer long diagnostic delays, which not only prolong pain but can also be fatal.
The researchers interviewed nine patients who live with HAE yet went undiagnosed for over five years. The patients shared their symptoms, office visit experiences, and more.
Kazuto Kato, the study’s senior author, described the overwhelming consensus.
“What was striking was that, in most cases, the possibility of a rare disease was simply not considered. Symptoms were sometimes put down to ‘psychological stress’ or ‘stomach flu’ and left at that. This is concerning because the condition needs to be treated to avoid worst-case scenarios and improve quality of life,” Kato said.
In turn, the researchers believe that raising rare disease awareness among both medical teams and patients is crucial.
“Our findings strongly suggest the need for measures to make it easier for patients and health care providers to recognize the possibility of rare disease,” Kato said.
These measures might include more rare disease recognition training for clinicians as well as more mass media coverage of rare disease prevalence.
Additionally, Kato encourages patients to conduct research too.
“Health care providers sometimes cannot be fully aware of their patient’s overall condition. So, patients should be encouraged to raise their suspicion and act themselves. This could reduce the diagnostic delays,” Kato continued.
In recent years, social media users have become prominent proponents of patient advocacy. Just a few months ago, a plus-sized woman named Amanda took to TikTok after her symptoms were written off.
The online community encouraged Amanda to seek a second opinion, and she ended up being diagnosed with colon cancer.
A longer diagnostic delay would have been fatal had Amanda not taken matters into her own hands.
Sadly, Amanda is nowhere near alone in her struggles, and this study only emphasizes how important it is for patients to take an active role in their patient care.
To read the study’s complete findings, visit the link here.
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