The real struggle and frustration of unexplained illnesses
Cynthia Tifft, MD, PhD, is the director of the NIH’s Pediatric Undiagnosed Diseases Program, also called the Undiagnosed Diseases Network. Find out more about her work in this HealthMaker video.
Transcript
The patients that come to see us, either this is an ultra rare disorder, this is a brand new disorder, or maybe it's a very uncommon version of a more common disorder,
or in some cases, we've had patients in which it's more than one disorder. We're speaking of thousands of patients
out there who have been on a diagnostic odyssey for years and years. [MUSIC PLAYING]
We started in about May of 2008, realizing that there was really an unmet need of not only people that
had very rare disorders, but people who had not been able to achieve a diagnosis, even after years and years of looking.
So patients apply to the program. And we review hundreds and hundreds of pages of medical records on each person.
They get very extensive laboratory testing, radiographic imaging, and then the advantage of many,
many of the hundreds of consultants here at the NIH. We talk to each other all day long or all week long about what we think this might be.
We modify the schedule. We look at additional things that have given us clues. And so we're really spending the whole week looking for clues
and what we call deeply phenotyping, looking very carefully at each patient. It's very unlikely that by the end of that week
we will actually find a diagnosis. But we have the clinical information that we have to then go on to explore their particular problem with
state-of-the-art, next generation sequencing, whole exome, whole genome. And we go through gene by gene, interrogating
each of those genes and saying, well, what does this gene do? Do we think it could cause something like this? How is it active in the body?
And in some cases, the genes are ones that we have been associated with human disease before. And we can make a diagnosis.
In a lot of cases, these are genetic variants in genes that have never before been associated with human disease. We don't know a lot.
I mean, the whole genome revolution, and coming up with genetic diseases and answers is terribly exciting.
But it's frustrating part of the time. But when you reach that aha moment, when no one else has been able to figure it out, and suddenly, you
figure it out. It's like wow. Partly because it's wow scientifically and part because it's wow you get to call the family and say,
we have an answer for you. It's a privileged position to be in to watch families and individuals cope with what
you think would be just the most devastating thing. [HEARTBEAT] [BEEPING]
health screening
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