D. Maurice Kreis
Got four hours to spare?
If so, I warmly recommend immersing yourself in the realities of the two most common genetic disorders in the United States: Sickle Cell Disease and Cystic Fibrosis. If you follow the links, you'll access separate episodes of the podcast "This Podcast Will Kill You," one for each disease, and each lasting about two hours.
The episode about CF is astonishingly good. Not only does it offer up a nuanced and informative take on a difficult (i.e., complicated and multi-faceted) subject -- it also does so by going from zero to sixty (in the sense of assuming no prior knowledge whatsoever about cystic fibrosis). The co-hosts -- epidemiologists Erin Welsh and Erin Allmann Updyke, each a PhD -- have somehow made microbiology feel friendly and accessible.
Certain other aspects of the CF episode especially impressed the heck out of me.
The Erins (as they refer to themselves) chose as their patient voice the musician/writer Jay Geronimi. He was unabashed in his disdain for people I sometimes refer to as professional CF patients -- he even made fun of "65 Roses" -- and said emphatically that while he is more than happy to discuss his experience of life with CF, he does not want to be known first and foremost as a PwCF (person with cystic fibrosis). That aligns perfectly with the perspective of the PwCF in my family (sometimes to my consternation, as a CF dad who has no problem with being widely known as such).
Want a drink? The Erins, who are clearly not victims of Humor Deficit Disorder -- have a recipe for a cocktail (which they refer to as a "quarintini") the called the Dorothy H. Andersen. It is served, of course, in a glass with a salted rim, a fitting tribute to one of my great heroes. Dorothy Hansine Anderson (1901-1963) was the Columbia University pathologist who, in 1938, first identified a condition she called "cystic fibrosis," since she noticed odd cysts on the pancreases of babies she was autopsying. As a consequence of this discovery, thousands of thousands of babies no longer need autopsies because they grow up, become adults, and often even survive into middle or old age.
As the Erins point out, Dr. Andersen ended up in the basement pathology lab at Columbia Presbyterian because she was a victim of rank sexism; she was not allowed to pursue her dream of becoming a surgeon. One factoid the Erins omitted is bitterly ironic: This woman, responsible for saving the lungs of so many, was herself a chain smoker who died of lung cancer at the relatively young age of 62. (Yikes. That's the age I am now!) Earth to New York Times: How about adding Dr. Andersen to your roster of "overlooked no more" obituaries!
The Erins' episode about Sickle Cell Disease was, if anything, even more remarkable -- especially for people with connections to Cystic Fibrosis. SCD and CF are, respectively, number one and number two when it comes to inherited life-shortening diseases in the U.S. In fact, about three times as many people have SCD than have CF. And, yet, as the Erins laudably point out, there is a gaping disparity in the resources allocated to curing the two diseases, whether it's government money or (especially) private funds. CF gets tons of money; SCD does not.
Is it any wonder, then, that SCD primarily afflicts people of African-American descent whereas CF mostly afflicts white people? The CF Foundation began in the 1950s as a project of some wealthy families with CF kids and, today, it is perhaps the most effective and well-respected healthcare charity on the planet. Its counterpart, the Sickle Cell Disease Association of America, is a loose federation of mostly local organizations.
To their great credit, the Erins zero right in on a study, published earlier this year, that brings this disparity into sharp focus. The lead author is Dr. Faheem Farooq, a prominent SCD physician on the medical school faculty of Stony Brook University in New York. Dr. Farooq's co-author is Dr. Peter Mogayzel, a physician who is very well known and respected in the CF community, serving as the director of the CF program at Johns Hopkins in Baltimore.
To the best of my knowledge, the Farooq-Mogayzel paper has received no significant attention in CF circles -- even in the midst of our national reckoning with racism and white supremacy. The CF Foundation has opted to address the "Black Lives Matter" moment by focusing on its commitment to do right by black people within the CF community. In my view (admittedly, as someone who is certainly a beneficiary of white supremacy), that's necessary but not sufficient. I'd like to see the CF Foundation build real and constructive ties to The Sickle Cell Disease Association. At the very least, it's time for some forthright discussion about this among members of the CF community.
Meantime, I'm now an unabashed fan of This Podcast Will Kill You. I look forward to a future episode on Humor Deficit Disorder.