One of the eight areas of focus at Sanford Research is pediatric and rare diseases. Generally, a rare disease is defined as a disease that affects less than 200,000 people in the United States.
About 7,000 of these diseases exist with treatments for less than five percent. Ben Forred, a project manager at Sanford Research, explains that while having a rare disease is rare, collectively about 30 million Americans have one.
“It turns out that it not all that rare to have a rare disease,” said Forred. “A rare disease, unfortunately and as heart breaking as it is to say, typically affects a child.”
You can learn more about rare diseases and Sanford Research in this podcast edition of “A Better You,” which airs Saturday on KSOO-AM.
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‘Dr. Google’ helps some patients diagnose a rare disease
Figuring out what’s going on when a rare disease strikes can be tricky. Most primary care physicians are not trained to spot a rare disease. And even specialists can have a tough time unraveling the mysteries of an illness they may not have seen before.
For many patients, this means going months, if not years, undiagnosed or misdiagnosed.
“There are many reasons for diagnosis delay,” said Mary Dunkle, a senior adviser for the National Organization for Rare Disorders (NORD) in Danbury, Connecticut.
“Rare diseases can resemble more common ones. They also tend to be complex and often involve multiple systems within the body,” she added.
In a recent issue of Genetics in Medicine, Dr. Anthony Bleyer and colleagues reported that some patients are finding specialist websites online, and contacting them without any guidance from a medical professional. Bleyer is a professor of nephrology at Wake Forest University Medical Center in Winston-Salem, North Carolina.
Such “self-referrals” are just as likely to produce an accurate diagnosis as referrals made by a doctor, Bleyer said.
While online searches aren’t always productive, “the internet does offer those with a rare condition a way to find the rare specialists interested in a particular condition,” he said.
Caution against self-diagnosis
Bleyer’s conclusion is based on analysis of 665 referrals received by a Wake Forest research center between 1996 and 2017. Of those, 40% were made by an academic medical center, 33% were made by a nonacademic doctor, and 27% came directly from an undiagnosed rare disease patient or his/her family.
In the end, a firm ADTKD diagnosis was made in roughly a quarter of all cases. And the diagnostic success rate was nearly identical regardless of how a referral was made.
Still, Bleyer cautioned that patients should not self-diagnose without the help of a doctor — “and above all do not self-medicate based on their self-diagnosis.”
Dunkle agreed, adding that patients and caregivers should always “be aware of the sources of information they find online.” She recommended that people use only trusted sources such as the U.S. National Institutes of Health, teaching hospitals and patient organizations whose information is reviewed by medical experts.