Bird Pinkerton
speaker
1,078 appearances
11 recordings
1 series
first heard Apr 2026
last heard 4d ago
Bird Pinkerton’s voice in public audio — every appearance, attributed to the second.
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recordings per month · last 12 monthsRecordings per month over the last 12 months — 11 in all, peaking in Sep 2026 with 3.
Appearances
Either the researchers would be able to come up with some kind of an answer.
Maybe this is such and such particular disease or, you know, this is a new disease that we have not seen before.
Or, as does happen, the researchers, despite their best efforts, still wouldn't be able to get to a firm diagnosis.
In Louise's case, though, a team came together, and then there was a bit of serendipity.
There happened to be a postdoc on the team who had done her PhD thesis on mice.
She was studying what happened when those mice were missing a particular gene.
And it gets a little complicated, but basically, when that gene was missing, it resulted in a strange pattern in the mouse's blood vessels that kind of matched the strange calcification pattern in Louise's family.
Once they went through all the tests and the data, they discovered that the proctor's condition was very much related to the postdoc's research, which helped them figure out that the problem here was a deficiency of an enzyme called CD73.
And so after 30 years, Louise Proctor finally got a diagnosis and her siblings finally got a diagnosis.
They all had this newly named disease called arterial calcification due to deficiency of CD73, also known as ACDC for short.
There's a lot to take away here.
In 2011, the researchers published their findings about this disease.
They'd found a few other people that had it.
Alexandra says the estimate is now 20 people worldwide.
But the postdoc who spotted the connection to her thesis is actually still studying it.
She's gone on to open her own lab where she studies CD73 and peripheral arterial disease full-time.
But in Alexandra's reporting, some of the biggest takeaways might be less about this one specific disease and more about what we might learn from the Undiagnosed Diseases Network.
She says there are lessons to be learned here, even if we're trying to diagnose more regular things.
Like, I think it's possible to see Louisa's story, for example, and think that as soon as she got the right scans and tests, doctors were able to find solutions for her.
But not every disease shows up on a scan.
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