What Use is Rare Disease Awareness without Rare Disease Action?
It’s ALS Awareness Month (and Stroke Awareness Month, and Pride Month, and Men’s Health Month, and National Indigenous History Month). Every month is overloaded, as there are far more than twelve causes competing for our attention. It’s enough to make one wonder whether all this awareness is actually helping anything. When is ALS Action Month?
In North America, ALS Awareness Month is a double header: May in the USA, June in Canada. You might have seen people wearing blue ribbons (sometimes striped with white as a nod to the Yankee’s uniform of Lou Gehrig, who died of ALS in 1941[1]). You might have seen people posting about ALS on social media, raising awareness. You may also have wondered, privately, what good “awareness” actually does.
It’s a cynical question on the surface, but also a fair one. ALS is a rare and incurable neurodegenerative disease that causes progressive weakness and paralysis, inevitably leading to death, usually through respiratory failure as the body becomes too weak to breathe on its own. The disease has proven highly resistant to treatment, even as medical science has advanced by leaps and bounds. Sadly, most patients die within two to three years of diagnosis, regardless of the quality of care they receive. The experience of ALS is absolute hell, for the person with the disease, and also for their family and friends. It’s hell whether society is talking about it or not.
Over the last decade, though, we have definitely been talking about ALS a lot more than we used to. In the news cycle, the dialogue was driven in part by the 2018 death of English physicist Stephen Hawking (whose mobility was severely limited by ALS for most of his life[2]). Nonetheless, the real crucible of public ALS awareness was the endless spate of viral online videos featuring celebrities and social media users participating in the Ice Bucket Challenge. But it’s not immediately clear how some stranger pouring a bucket of ice water over their head on TikTok actually benefits a person dying of ALS.
On the one hand, certainly, there’s a straightforward fundraising component to the Ice Bucket Challenge, as with benefit walks and other events. Many of those who participated were seeking donations to ALS charities or pledging donations themselves. The American ALS Association reported receiving an additional $220 million in donations attributable to the challenge. The ALS Society of Canada saw a $26 million increase. About two-thirds of that went to funding research, and another 20% went to providing services directly supporting ALS patients and their families.
But that still leaves us with two questions.
First, it’s all well and good when awareness pairs directly with donation, but what about when it doesn’t? Retrospective studies of the Ice Bucket Challenge phenomenon found the vast majority of those who participated did not donate to any ALS charities, and the same is surely true of those posting blue ribbons on their social media feeds today. This is practically the textbook definition of slacktivism and, as Malcolm Gladwell wrote way back in 2010, “Facebook activism succeeds not by motivating people to make a real sacrifice but by motivating them to do the things that people do when they are not motivated enough to make a real sacrifice.”
And, perhaps more importantly, if 150 years of ALS research have thus far failed to produce any truly transformative treatments for this disease, what’s good can come from investing millions of dollars more into that research?
Asking these hard questions is the essence of critical thought. But asking them rhetorically would be a big mistake, potentially undermining real progress. So let’s try to actually answer them. And the best way to do that is by talking with someone on the front lines of ALS research.
At the Children’s Hospital of Philadelphia (CHOP), Dr. Yuanquan Song is leading a team investigating the genetic pathways behind the neurodegeneration at the core of ALS. His team is using CRISPR and other advanced technologies and techniques in fruit fly models to identify the mechanisms that allow neurodegeneration and enable neuroregeneration. Their ultimate goal is to build a new genetic paradigm that will allow the selective prevention of neural damage, and potentially even regenerate after damage has already been done. “We can very simply now take a mutation that causes ALS in humans, put it in a fly neuron, and see what happens,” explains Dr. Song. “We can then try to modify the phenotype by targeting the genes that we have identified for the axon injury paradigm.”
Dr. Song is quick to emphasize that this research would not have been possible even a couple of decades ago. “There are a number of newer technologies boosting ALS research,” he says. “CRISPR is an incredible tool. It’s probably going to be one of the best approaches going forward for potentially correcting mutations in human patients, although I don’t believe anything like this is in clinical trials yet for ALS. In terms of treatment options that are currently in trials, a lot has also been done with antisense oligonucleotides, a complementary gene manipulation technology. There have also been technological advances in sequencing and integrating human data with animal model bioinformatics, giving us a ton of new resources for testing hypotheses in ways that can really drive the field forward.”
Quite simply, we may soon look back on that century and half of ALS research not as proof that this disease as intractable, but rather as essential groundwork that needed to be lain while we waited for the genetic technologies to be developed that would finally give researchers a chance to begin the real search for meaningful treatment. If there ever was a time to invest every dollar we can spare into basic medical science, that time is now. The potential return on investment has never been higher, and Dr. Song makes it quite clear that researchers today have more promising lines of research available to them than they could exhaust in lifetime.
As Dr. Song’s team prepares to publish their first set of findings, the future of their research depends directly on the availability of funding. Will their research reach its conclusion with a new framework of neurodegeneration rooted in a fruit fly model? Or will they be given the resources they need to follow this promising lead to its long-term goal of radical new treatments for ALS and other neurodegenerative diseases? The answer, inevitably, is going to come down to money.
“My overall goal is always to do things that can have a positive impact for human patients,” says Dr. Song. “It’s a process of building a story and expanding your work, and as the story progresses, the need for funding increases. The reality with this kind of research is that, if you can’t get funding, you may have to end your story somewhere short of where you would have liked.”
Which brings us back around to the question of awareness. If we’re collectively going to make the most of this opportunity, we need to ensure not only that research like Dr. Song’s is funded, but also that the ALS research space is an attractive one for new scientists to enter. And these two things are inextricably connected. “ALS, compared to the other neurodegenerative diseases like Alzheimer's and Parkinson's, gets less time in the spotlight,” says Dr. Song. “Alzheimer’s and Parkinson’s definitely get more funding, and so there are fewer researchers working on ALS. If there were more funding opportunities, I’m sure we would see more people attracted into this field.”
Awareness drives funding which in turn drives science. This is the fundamental calculus underlying initiatives like ALS Awareness month and the Ice Bucket Challenge. Even the person whose support begins and ends on social media, without ever opening their wallet, helps to keep the conversation alive so that it can reach more people, who may actually donate. And, outside the donation paradigm, public funding bodies like the National Institutes of Health (NIH)—which is in fact the primary funder of Dr. Song’s research—find themselves allocating a finite amount of funds among an ever-growing field of applicants. Only about one in five NIH applicants receive funding, and anyone submitting an application would certainly prefer to be able to point to a clear public demand for their research.
More than that though, a robust public conversation simply makes science easier and more rewarding to pursue. “In general, increased awareness is always helpful for this type of research,” says Dr. Song. “Honestly, if the public is more aware of the problem you’re working on, then you feel more involved and motivated as a researcher. Even when that awareness doesn’t lead to funding directly, it’s very motivating to be able to talk to neighbours and acquaintances about your research and have them understand why it’s significant.”
This is our definitive answer. What good does awareness actually do? As it turns out, all of it. Yes, ideally that awareness will translate into action—whether that’s donating, volunteering, seeking political change to ensure that basic science is well-supported, or even becoming a researcher yourself. Behind the scenes, every month must be ALS Action Month. But, this ALS Awareness Month, don’t underestimate the collective power of cute little ribbons on social media profile pictures. Problems that aren’t talked about are rarely solved.
[1] Some American readers may, in fact, be more familiar with ALS under the name “Lou Gehrig’s Disease.”
[2] Hawking’s decades long survival is a notable outlier within the ALS population, and the fact that Hawking is the most recognizable face of the disease has certainly led to public misconceptions about the typical progression of ALS.