Scary-ish Diagnoses, Optimism and Gifts from the Past

The best time to be alive, redux

Yesterday afternoon I was diagnosed with Fuchs dystrophy, a hereditary eye condition that slowly progresses and can lead to severe pain and eventual blindness. It wasn’t a total surprise since my mother, grandmother, and uncle all have it, but it was an unpleasant shock nonetheless.

As an academic whose life revolves around the visual - reading, writing, engaging with students and colleagues - losing my vision is one of those deep down fears I avoid thinking about.

Fortunately, having Fuchs in the 21st century is a totally different ballgame to having it in the early 20th century or even the late 20th century. While I do have a genetic disease that threatens my vision, the chances of my losing my eyesight - at least from Fuchs - are probably very low. Turns out, it’s the best time to be alive!

When the condition was discovered in 1910 though, the only option patients had was to wait and see if they eventually went blind or became profoundly visually impaired. Researchers and physicians could diagnose it, but they couldn’t do anything about it. Corneal transplantation for other conditions was in its infancy with a high failure rate. The first successful corneal transplant for Fuch’s didn’t happen until 1952.

What’s more, the disease progresses differently in different people, so you wouldn’t know for sure if the disease would stay stable until something else knocked you out or if it would progress into full blindness. The unknowns far outweighed the knowns.

Increased Options

In 2024 we have a range of options from eye drops that help decrease the build up of fluid in the cornea all the way to corneal transplants, with more options being developed every year.

Fuchs in 2024 is wildly different even from Fuchs in 1990. My grandmother was able to get a cornea transplant from a cadaver donor in the 90s, but even then the technology required stitches (!!!) and the discomfort of the surgery and recovery time was significant. Transplant rejection was always a concern. She ended up only completing the surgery on one eye because the recovery from the initial transplant was so difficult and painful.

Today, interventions are increasingly non-invasive, recovery time is minimal, and we’re moving toward new technologies that may be able to remove the diseased cells without needing a transplant at all.

Ironically, I was diagnosed with Fuchs during a routine assessment for LASIK, another wonderful innovation developed during my lifetime that offers hope for the visually impaired like me. Unfortunately, because of the Fuchs I’m not a candidate for LASIK, but it’s still nice to know we’re getting better and better at giving people with visual impairments options for easier lives.

Increased Agency

Today we also know more about the causes of various kinds of diseases, including Fuchs, and we know more about the complex interplay between genes and environment. (If you want to geek out, this is an extreme deep dive on the genetic, epigentic, and environmental causes of Fuch’s and current treatments).

While I was likely cursed with Fuchs in some capacity from the moment of conception given my family’s history, I didn’t help anything by smoking in college and not wearing sunglasses for years, both of which likely contribute to the severity of Fuchs.

I can’t change my own past, but I can let my kids know not to do stupid things (especially those that are stupid for other reasons as well). My kids will likely have greater agency over their eyesight than I did in the 1980s and certainly than any of us would have in 1910.

Notice that none of my optimism means that we’ve solved every problem. We can treat Fuchs, but there’s no cure other than a transplant right now. I have every hope, however, that cures or even total prevention via gene therapy are on the horizon, maybe even in my lifetime.

Why Optimism Matters

The progression of treatment for Fuchs dystrophy provides an important lesson about optimism and human progress. As I’ve argued previously, we need to remember how much progress we’ve made if we’re going to keep expanding scientific innovations that save everything from eyesight to lives.

The adage that those who don’t know history are doomed to repeat it is just as true for innovation as it is for war or genocide. People who don’t understand how far we’ve come are sometimes the most resistant to new technologies that could unleash incredible power to limit human suffering.

Ironically, those with the most privilege are often those who reject new technologies out of misplaced fear or failure to understand and reckon with tradeoffs. We see this most clearly in Greenpeace’s objection to golden rice, a GMO that could save the eyesight of millions of children worldwide.

Just in May, Greenpeace successfully blocked the rollout of Golden Rice in the Phillipines, a dark “win” that will likely condemn thousands or tens of thousands of children to malnutrition, blindness and death. Greenpeace “won” by blocking a definite win for human flourishing out of deference to vague (and unfounded) fears that something bad might possibly happen in the future. They privileged a possible unknown against the eyesight and wellbeing of thousands of children suffering (and dying) in the present.

They also, crucially, rejected some incredible gifts from the past, gifts that included the lessons learned from years of research and the sacrifices made by the millions of people who had to die in order to mobilize researchers to find a solution.

Gratitude in Four Dimensions

I talk a lot about the four dimensions of our shared landscape on this blog and I sometimes get questions about what the fourth dimension of time does or why I include it. One reasons is that the past gives us incredible gifts. The ingenuity of past generations, the risks people took to make progress, and the sacrifices other people made to get us where we are today are unquantifiable. But they have deep meaning for people like me who get to benefit from everything that came before.

That’s true every time a child who has strep gets a simple penicillin prescription from urgent care or every time someone with HIV gets a (now) simple antiviral drug that prevents AIDS. And it’s certainly true for me, the day after a somewhat scary diagnosis.

Humans in community have the ability to do incredible things, but pessimism and misplaced fear can and will hamper that ability if we let it.

Note that none of this means we have to uncritically accept new innovations or technologies. I’ve written extensively on the tradeoffs involved in new medical technologies and how they interact with cultural and policy frameworks at every level. I’m not talking about uncritical acceptance of every risk or every potential outcome.

Optimism and Gratitude for Gifts from the Past

But in innovation just like everything else, there’s a radically moderate position that prioritizes saving human lives and human potential while working to mitigate risks and compensate for negative side effects. Will it be perfect? Of course not, because we’re human. Will our ingenuity and sacrifices create the foundation for an even better world to come? I’d bet on it.

All that’s to say, I’m deeply and profoundly grateful for all the scientists and physicians who paved the way for a world where my Fuchs diagnosis at age 43 doesn’t represent the eventual and irrevocable loss of my vision, my career and the things I love doing. Instead, it’s a manageable genetic disease that - fingers crossed - we may see eradicated during my lifetime. That certainly won’t happen if we live in fear of innovation and block incredibly powerful technologies on purely political or fear-based grounds.

I’m deeply grateful for the optimism of all those physicians in the 20th and 21st century wandering around our shared landscape who saw people in a pit and who dedicated their talents and their careers into figuring out how to get them out. I’m also grateful to the thousands or tens of thousands of patients - like my grandmother - who took a risk with a less-than-ideal procedure that helped the science evolve and provide benefits for her children and grandchildren down the road.

All those gifts from the past, gifts that will likely save my eyesight, are gifts that I will have a hard time repaying.

But I’m going to try.

What about you? What gifts from the past are you grateful for today? Tell me in the comments!

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