Alexandra Sifferlin

a group of clinicians and researchers who take on sort of the greatest medical mysteries, cases that have gone undiagnosed.

And the Proctor family were invited to come to this network, and they were actually the first diagnosed case of the Undiagnosed Diseases Program.

And they have what it has turned out to be an incredibly rare case

genetic disorder where calcium almost immediately builds up inside of their arteries.

So that's what's sort of causing the pain and kind of this raising up sensation.

But this was a totally novel disease discovery.

And, you know, it really took these siblings advocating for themselves to get there.

So in their applications, what they're looking for, and as you might imagine, they get an enormous number of applications every year.

But the kinds of cases that they are taking on are illnesses that do look like they are either something rare or novel, like a presentation of symptoms that haven't been seen or maybe there isn't much academic literature about them.

and that the clinicians think this could be some sort of new or very rare genetic disorder.

What they're also looking for are, even if this looks like it's something rare or potentially novel and never observed before,

does this case potentially have the opportunity to shed light on something more common?

So for instance, the Proctor family, they have this kind of

immediate and abnormal calcification of their arteries, and their disease is incredibly rare.

However, calcification of the arteries in general is very common.

Heart disease is very common.

And so their case, by looking at...

By looking at cases more on the extremes, the Undiagnosed Disease Network researchers are hoping that not only can they help families who have something rare, but ideally that research can also help inform more common diseases or just help inform the broader medical knowledge of disease.

So I think, you know, sometimes from these TV shows, it is, you know, it's like the doctor is some kind of Sherlock Holmesian character, and they're just like picking up on things.

And there are physicians like that, and I have interviewed them, and they're in my book, and they're amazing.