Cystic Fibrosis, Sickle Cell Disease, and White Supremacy
It's time for the Cystic Fibrosis Community in the United States to confront our moral responsibility to stand in solidarity with our brothers and sisters working to cure and to live with Sickle Cell Disease.
Cystic Fibrosis and Sickle Cell Disease (SCD) are the two most common life-shortening genetic illnesses in the United States. Both are considered "orphan" diseases -- i.e., there are very few CF or SCD patients compared to cancer or heart disease or Alzheimer's -- but, in raw population terms, SCD is the bigger deal. There are approximately 30,000 CF patients in the U.S., but more than three times that number of Americans live with Sickle Cell Disease.
This is the year of Black Lives Matter -- the year in which the United States of America is owning up to its wretched legacy of racism and white supremacy. White people, of which I am most assuredly one, are supposed to confront to the white privilege that has literally given us every advantage since our forbears first showed up in North America, stole it from the native people, and forced slaves from Africa to build the nation.
So, this really ought to be the year in which the CF community, which is mostly white, starts thinking about, and reaching out to, the Sickle Cell Disease community, which is mostly black.
I keep waiting for more consequential figures in the CF community than me to take that step and to start that process. But so far, as best I have been able to ascertain, there's been almost nothing but silence. In these circumstances, with CF on the brink of being reduced to a controllable medical condition, my conscience requires me to talk about this elephant in our national CF living room.
One huge and welcome exception to the silence came in early 2020 from Dr. Peter Mogayzel, one of the nation's most prominent CF specialists. Mogayzel is the director of the CF Center at Johns Hopkins in Baltimore -- one of the top CF clinics in the country, whose former director is now CEO of the CF Foundation. Mogayzel also serves on the Board of Trustees of the CFF, as the nonvoting representative of the nation's CF care centers in what is, literally, the room where it happens.
In March, JAMA Network Open published a paper Mogayzel co-wrote with lead author Faheem Farooq, MD of Stony Brook University in suburban New York, hematologist John Strouse, MD of Duke University in North Carolina, and two Johns Hopkins colleagues (Sophie Lanzkron, MD and Carlton Haywood, PhD). Presumably because of unfortunate timing -- recall that in March the nation was first slamming up against the COVID-19 pandemic -- the Farooq-Mogayzel-Strouse paper seems to have handed with a thud. This is regrettable.
Titled "Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated with Research Productivity," the Farooq-Mogayzel-Strouse paper lays out in plain terms the almost shocking disparity in resources devoted to curing the two diseases -- and the consequences of that disparity.
"Despite SCD being three times as prevalent as CF, both diseases received a similar amount of government research funding between 2008 and 2018," the authors noted. "The funding disparity was markedly increased when factoring in disease-specific private foundation funding. The additional research support was associated with greater research productivity and pharmaceutical development for CF compared with SCD."
As someone steeped in the world of academic medicine who travels in the rarified circles inhabited by CFF Trustees, Peter Mogayzel must resort to such turgid prose to render insights like these. But here we can talk about the subject in plain English.
The Cystic Fibrosis Foundation is known around the globe as the driving force in what is often referred to as "the greatest story in medicine." Thanks to the CFF's "venture philanthropy" model and other innovative approaches to curing this orphan disease, a condition that used to claim its victims as infants is now one a person expect to survive and thrive with many years, even decades, into adulthood. The CF Foundation was founded in 1955 by a group of wealthy white families who were determined to deploy their resources to that very end.
This determination is many things -- many laudable things, for which a CF dad like me is eternally and deeply grateful -- but is also an example of white privilege in action.
Venture philanthropy is, after all, an unabashedly naked exercise of economic power; it diverts the R&D resources of Big Pharma corporations away from work on less "orphan" diseases and into CF, and it has done so in a manner that has proven very lucrative for the CFF. As of a few weeks ago, the CF Foundation has collected more than $3.8 billion from Royal Pharma in exchange for the CFF's financial stake in breakthough "modulator" drugs (Trikafta, Symdeko, Orkambi, and Kalydeco) sold by Vertex Pharmaceuticals.
If that has elements of a Faustian Bargain, I am in no position to complain. My daughter, who is about to turn 19, is among the 10 percent of CF patients who are not helped by the modulator drugs. That $3.8 billion will go a long way toward delivering her miracle, in due course. (Ironically, almost humorously, doctors Farooq, Mogayzel, and Strause explicitly state that one of the "limitations" of their study is that they did not take the Royal Pharma payout into account. Journalist Meghana Keshevan, writing in MedCity News, put it all together in 2015.)
The point here -- the one implicitly made in the Farooq-Mogayzel-Strause paper -- is that we who are befitting from all of the progress on the CF front have a moral responsibility to help assure that the same cultural and societal force is placed beyond the quest to overcome SCD. Because that's simply not happening now even though there are three times as many people with Sickle Cell Disease as there are people with Cystic Fibrosis.
As Mogayzel and his colleagues point out, we've known about the SCD-CF disparity since 1970! That's when hematologist Robert Scott published a paper in JAMA that The New York Times covered in a story bearing the headline Doctor Asks Curb of Negro Disease.
Like every other major institution in the United States has done this year, the Cystic Fibrosis Foundation has explicitly and unambiguously acknowledged its responsibility to address the nation's horrible legacy of racism and white supremacy. But the CFF is focused exclusively on racism and white supremacy within the CF community, promising on July 8 to take these steps:
Listening and education - Understanding the experiences of Black and other people of color with CF and increasing diverse voices informing our strategy and programs.
Recruitment, retention, and career advancement - Supporting the professional advancement of Black researchers and healthcare providers.
Health equity - Improving health outcomes for Black and other people of color with CF as part of our mission to ensure all people with CF live long, fulfilling lives.
Here's the thing though. The CFF's July 8 announcement noted that about five percent of CF patients identify themselves as black. It's just awesome that the Foundation wants to do right by these people, while assuring that the many African Americans who help care for people with CF get the professional opportunities and workplace respect they deserve. But the role racism and white supremacy has played in cystic fibrosis is a macro problem that demands more than a micro solution.
Kudos, by the way, to Erin Allmann Updyke and Erin Welsh, the sharp but irreverent epidemiologists behind the podcast This Disease Will Kill You. They zeroed right in on the SCD-CF disparity in August, although they did so exclusively in their (excellent) episode about Sickle Cell Disease without, alas, having mentioned the issue at all in their (also excellent) deep dive into CF.
So where should we as a CF community go from here if we are to do right by our sisters and brothers in the world of SCD? Well, as a white person living in a very white community who knows very few black people and is acquainted with exactly nobody connected with Sickle Cell Disease, it is, of course, not for me to say. Or, at least, it's not for me to say anything beyond the obvious, which is: We should ask the SCD community what it might need or want from us.
One intriguing possibility found its way into the Farooq-Mogayzel-Strause paper. They noted that a key element of the success on the CF front is the existence of a "robust national organization linked with state and local chapters." By contrast, they added, "[c]urrent charitable SCD organizations are disjointed and have limited success with fundraising given the reliance on small donations from the community affected by the disease." This is wisdom the CFF learned the hard way, having originally operated as a more loose federation of local chapters which, I am given to understand, yielded their autonomy with great reluctance.
One can only hope that Peter Mogayzel is working the crowd at CFF trustee gatherings to see if there is support among movers and shakers in the CF community for some kind of outreach to the SCD community. It is surely the case that there are people in the SCD community who would be interested in exploring the development of the kind of strong and centralized national organization typified by the CFF. Of course we CF families are grateful for the Foundation's unwavering focus on its core mission of curing CF, but we also know that the CFF sometimes finds common purpose with other healthcare organizations -- see, e.g., the recent amicus brief in Texas v. California, opposing efforts to eviscerate the Affordable Care Act.
If I have learned anything as a CF dad, it is this: My family and I stand on the shoulders of giants -- brilliant and persistent physicians and scientists, and especially Gold Star CF families who watched their children die and persisted nevertheless so that my CF daughter can live a full, long, and happy life. The corollary to such a lesson is that the biggest threat to my daughter is not that scientific progress will slow or that her caregivers will falter. It is, rather, that civilization itself will falter -- signs of which have been all too discernable in this wretched year of 2020.
At this "Black Lives Matter" juncture in our national history, reaching beyond the strict confines of Cystic Fibrosis care and Cystic Fibrosis research to find common purpose with the Sickle Cell Disease community would be a civilization-preserving and civilization-enhancing move. And staving off the threat that civilization will fail us is not just within our mission; indeed, it is mission-critical.
[Rose and her friend Mbali, in 2003]