The San Francisco Chronicle had a pretty neat story about how one man’s post-cancer neurological issues lead to a so-rare-it’s-still-unnamed disease diagnosis.
And tracking how we got to the movement of diagnosis puts on great display all the many hard-working people it takes to reach that medical milestone of a new disease diagnosis; including the team of researchers spanning decades, and the undiagnosed patients who become trial participants.
The article begins-
Three years after he was successfully treated for testicular cancer, Glenn Sauber began suffering disturbing neurological symptoms.
He’d lose his balance after he worked out near his Sebastopol home. His speech became slurred. One day, he was suddenly struck with double vision. His right leg and arm were sometimes hard to control; they moved like the limbs of a marionette.
Like many with an unknown or rare disease, doctors couldn’t come up with a proper diagnosis. One minute it could be Parkinson’s; the other it was MS.
After a head scan, he was told he might have an inoperable brain tumor. But a UCSF doctor who saw him early in his diagnostic journey suspected he had an autoimmune disorder; so he invited Glenn to participate in a study.
A year later, while Glenn was getting ready for radiation therapy on what he thought was a brain tumor, the UCSF team came through:
His immune system was destroying nerve cells that emit a specific protein — the very same protein that had been emitted by the testicular cancer cells years earlier. His body had developed antibodies to pursue the protein and attack the cancer. Now those antibodies were targeting his brain.
In other words, his body was still in cancer-fighting mode, but with the cancer gone, it is fighting healthy brain cells.
Glenn’s case really underscores how far we’ve come in modern medicine and how scientists are leveraging new tools to identify new diseases that have evaded patients and doctors for years.
“At least I know what’s happening now,” Glenn said. “It’s certainly not ideal to have this condition, but it could be way, way worse.”
Glenn was the first man to be diagnosed with a disease so new that it doesn’t yet have a name. Scientists are going with “ketch-like protein 11”, named after the protein at the center of it all.
And this case was written up in the New England Journal of Medicine, among the world’s most prestigious medical publications — underscoring what an achievement it was.
“It’s a strange way to gain fame,” Glenn said.
At the time the paper was written last fall, doctors had identified 12 other men with ketch-like protein 11. And as of early July, when the paper was published, an additional 40-50 cases had been reported.
What a difference nearly a year makes.
And to put into context just how important research is — even that of decades go — this discovery of ketch-like protein 11 has long roots. It actually started nearly 20 years ago at the Mayo Clinic, where doctors run a national program for studying autoimmune disorders that specifically affect the brain and central nervous system.
In 2000, Mayo Clinic doctors saw a man who’d had testicular cancer before experiencing neurological symptoms, including trouble walking and problems with his speech and vision. They screened a sample of his spinal fluid and found a pattern they’d never seen before: Under a microscope, the splash of antibodies across the mouse tissue looked like stars in a night sky. The scientists called it “sparkles.”
The identification of those “sparkles” became the hallmark for other similar cases, including Glenn’s.
For now, patients like Glenn are being treated with immune-suppressant drugs, with mixed results. While his symptoms seem to have stabilized, he still needs a cane or walker to move around. He had to quit his job as a video editor because of prolonged vision and wrist problems.
“There are certainly some days where I’m bummed out I can’t do the stuff I did before. I wish I could drive and walk,” Glenn said. But with a formal diagnosis, “at least I have some closure. And now I know the path I’m on and which way that path is going.”
Glenn’s diagnosis (and its published medical analysis) was a momentous first step that will have ripple effects; in the research labs for doctors eager to learn how to treat ketch-like protein 11, and in personal lives of people affected with this newly discovered rare disease.
