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27. I'm Not Broken: Why Albinism Advocacy is more Valuable than Genetic Research


Show Notes:


I have never wanted a “cure” for my albinism and corresponding visual impairment, but only recently found the words to explain why. Research regarding treatments for and the genetic origins of disabilities raises complex ethical questions. Does studying albinism in a laboratory genuinely improve people’s lives, or does it merely satisfy the curiosity of medical professionals? In “I’m Not Broken,” I argue that albinism should be viewed as part of one’s identity and a source of community rather than an undesirable mutation. I consider the emotional, social, and political impacts of seeking to reverse or cure blindness. I then argue how redirecting these funds towards developing assistive technology, advocating for legislative changes, and providing necessities (sunscreen, UV protective gear, etc.) to people with albinism would have a stronger impact. Keep in mind that this is a deeply personal subject. My goal is to share my perspective and lived experience—not speak on behalf of the entire albinism community.


“I think it is very important to center lived experience and the voices of people with albinism when discussing research about our condition. Because when it’s only parents and medical professionals making these decisions, they miss part of the picture.”


Key Points:


0:00 - Intro


2:30 - Why is genetic research such a complex issue in the disability community?


5:30 - NOAH and Albinism Research


7:20 - Personal and Emotional Experiences with Albinism Research


13:30 - Does focusing on albinism at the molecular level meaningfully improve people’s lives?


14:25 - The “Vision” Component - Does sight equal quality of life?


19:10 - The “Appearance” Component and Beauty of Biodiversity


21:05 - Final Thoughts


Resources:


Transcript


After my parents got my albinism diagnosis, they decided not to get me genetically tested, and I'm very glad they took that route because whether I had OCA1 or OCA2 ultimately would not make that big of a difference in my life. But boy, do medical professionals love to study our funky genes. In particular, one of my ophthalmologist's favorite topics of conversation was stem cell research and how it eventually could be applied to reverse the impacts of albinism. Starting in high school, he suggested that I visit a genetic counselor because there was a chance I could pass on my “disease” to my future children. All of these conversations made me incredibly uncomfortable. I didn't want to be viewed as a puzzle that needed to be solved or studied under a microscope. My vision wasn't something that needed to be fixed. I was perfectly happy the way I was. Of course, when I was a teenager. I didn't have the words to explain this, but now that I do, I am ready to talk about it. So stay tuned.


*Intro Music*


Hello everyone. Welcome back to another episode of Legally Blonde & Blind. As I'm recording this intro, Smalls and I are soaking up Cherry Blossom season. We visited the Tidal Basin a few days ago where she not only got her first exposure to these beautiful flowers, but also segue tour groups. Fortunately she was unfazed. We are both enjoying the warm weather whenever it comes to DC and are very much looking forward to the summer. Smalls is a Florida pup through and through. She most certainly does not like the wind tunnels and rain of Washington DC.


Anyways, I've wanted to make this episode for a very long time, but it is admittedly a challenging, controversial, and a bit intimidating of a topic. As a person pursuing a business degree, I wondered if I even had a place in this discussion. The science behind albinism, in all honesty, doesn't interest me one bit. Frankly, if you asked me how albinism causes low vision, I wouldn't be able to give you an answer, but I believe that lived experience is just as if not even more important in these discussions than academic expertise because genetic research surrounding disabilities, especially projects that seek to reverse its impacts, affect all of us, not just those that can understand the jargon.


This is a very complex issue within the disability community. Many of us that were born with our conditions view it as a characteristic, a part of who we are, a part of our identity whereas people who acquired a disability later on in life or whose disabilities cause chronic pain or fatigue or lower their life expectancy tend to be a lot more receptive to the idea of. I really want to emphasize that point because the way I describe it to people is that if I were given a pill completely free of charge, that could magically restore my eyesight without any side effects or consequences, I wouldn't take it, not by a long shot, though not everyone feels the same way, and I need to respect that.


The value being visually impaired has added to my far outweighs any of the obstacles I've encountered. I think about all of the people I've met through this podcast, and especially my relationship with Smalls. One of my instructors during training said something along the lines of, “now I don't believe in God, but the fact that these dogs can be trained to guide people and work so seamlessly with their handlers is the closest thing to a miracle I've ever seen.” I 100% agree with that. I get to have this deeply meaningful bond that adds so much to my life solely because of my low vision, but not everyone is in that kind of place. I can imagine that if it was your lifelong dream to become an airplane pilot or an astronaut, you may not be so happy with your legally blind status. My goal here is to share my perspective as someone who does not want to be “cured.” I'll then explain why I think society currently has the tools to tangibly improve disabled people's lives, but that they won't be found in a laboratory. If you've watched any of my previous legally Blonde and blind episodes, I am a massive proponent of the social model of disability, especially for conditions like albinism. It's the idea that society and its barriers disable us, that we as individuals are not the problem. Society is what needs to change. And of course, no one model of disability is perfect or can explain everything, but I think embracing it in this case could help us better understand how to improve quality of life right now with the tools and information we have available.


I do want to make the disclaimer that I am by no means trying to imply that all research is bad. In particular, I think assistive technology labs are awesome. What I'm trying to say is that focusing on albinism in isolation merely as a genetic mutation or abnormality is not going to solve the barriers and discrimination people face. So with that, let's get started.


I was exposed to this idea of stem cell or genetic research, being able to reverse the visual impairments caused by albinism, at a very young age, not only by my rather pushy eye doctor, but also by NOAH. The National Organization of Albinism and Hypopigmentation is heavily involved in research and has given $125,000 in research grants within the past two years. To be clear, not all albinism research seeks to reverse or treat its impacts, but I believe studying it solely at a genetic level reinforces the medical model of disability, the idea that disability is a problem inherent within an individual, something that is undesirable that needs to be fixed. Noah recently awarded two $50,000 and one $25,000 research grant. So what are these people doing with this money? Here are some excerpts from their projects. One states that “currently there are no treatment options to reverse the effects of albinism making OCA1 therapies a significant unmet clinical need. The Bryne Lab will leverage our state-of-the-art viral vector pipeline to develop new gene therapies for OCA1.” Another states that their goal is to “better understand the genesis of ocular pathology at the molecular level.” The last one aims to “reveal the causes of the altered connections between the albino retina and the brain.” Beyond its research program, several NOAH parents and families in the albinism community at large are very interested in genetic testing and understanding the causes of albinism. One mom with a particularly large following, made a post about her child and wondered if one day there would be genetic therapy to reverse the impacts of albinism and how she would like it for the vision part, but she doesn't want that beautiful white hair to go away.


As you can probably guess. I have some thoughts here. And the way I'd like to approach the rest of this episode is first I'd like to talk more about the personal, emotional impacts that this has had on me because I think it's important to acknowledge that the way that we talk about and regard albinism affects people. Then I'll go into the broader social and political arguments as to why I don't think this is the best way to spend our money.


I've thought about this idea of a “cure” since I was a child. At one point in my life. I actually believe that carrots could cure blindness. Have you ever heard the rumor that the Vitamin A in carrots improves eyesight? Well, it didn't work for me, but they are still a wonderful snack. But for the most part, I didn't think about my visual impairment that much as a child. I was far more concerned with Littlest Pet Shops. The one reminder would be those yearly eye exams. I was never a fan. I hated the eyedrops, the bright lights, and I remember daydreaming when I was very young, probably only six or seven in the waiting room about how maybe he would come up with some way to restore my sight so that I wouldn't have to come back. But as I mentioned in the intro, there would often be conversations about gene testing and potential therapies during these appointments. I did not know how to express my emotions or discomfort, so I would just look very angry. My mom can attest to this. I cannot hide my emotions in my face. If I'm frustrated, I will turn bright red. Later on in middle school, when the first generation of the Oculus started rolling out, there were several companies that were looking into making VR headsets for the visually impaired to essentially simulate 20/20 vision. One day I got off the bus and my mom met me in the driveway. She asked me, “how would you like to see?” I was initially very confused, but she was talking about one of these headsets. For additional context, these headsets are incredibly expensive within the range of $10,000 to $15,000, and it baffled me that they would be willing to take that kind of money from their life savings, which is now going towards Georgetown University, to give me 20/20 vision. Okay, also, quick tangent. These headsets like the eSight make no sense to me. If most forms of blindness are degenerative, meaning that they'll get worse over time, then won't the headset eventually become useless as you lose the remainder of your vision? How does it account for any blind spots that people might have? How would you deal with the chronic neck and head pain that would come from wearing these massive goggles?


The point is, I've been exposed to this idea for a very long time. It didn't just happen when I sat down for my first disability studies class or when I read the 2021 project proposals for NOAH’s research program. The truth is talking about albinism research always made me kind of sad. I think the best way to describe it is that there cannot be an exact copy of Marissa, Lauren Nisley, that exists in a parallel universe without albinism. It is inseparable from who I am. So when people talk about albinism as if it's merely a genetic mutation, a pathology, if you will, it makes me feel like I'm a burden, that I'm the problem, that I need to be fixed, even though I know that is no one's intention here. The language medical professionals use is so clinical and dehumanizing. After reading those proposals, I couldn't help but wonder, what do these random PhDs know about the lived experience of having albinism? Have they ever spoken to a real live albino outside of a laboratory?


The phrase I wrote down in my notes is “I wish people loved albinism as much as they loved me.” Now, that sounds angsty and sad, but what I meant by that is I don't really like this sort of half-hearted acceptance. The idea that “albinism doesn't define you,” “albinism doesn't hold you back,” or “you're a person with albinism.” I just don't understand how you can say albinism is beautiful but then spend $125,000 on research that implies that we are undesirable mutations, something that needs to be studied under a microscope, that ultimately needs to be fixed. These all feel like attempts to separate albinism from who I am as a person, and though I once again know that it is no one's intention, it hurts.


What always got to me the most though was the idea of prenatal testing. What inspired me to make this episode was I found an article from a researcher who had a daughter with albinism, and she explains how her child shifted her perspective on what genes needed to be fixed. There was a portion of the article where they admitted that if they had known she was going to have albinism before she was born, they probably would've aborted the pregnancy. Here's a quote:


“These conversations have great weight in our family because Palmer and I believe that had we learned, our unborn child had oculocutaneous albinism, Ruthie would not be here today. She would've been filtered out as an embryo or terminated in the future. It's possible that children like her could be edited or fixed.”


And that idea is absolutely heartbreaking. It's something that weighs very heavily on me. You know, in high school I was staunchly pro-life, and I think a large part of that was because I so desperately wanted to prove that lives like mine were worth living. The idea that someone could get a prenatal test, see albinism, and think “eh, not worth living,” absolutely devastated me. At this point, I am no longer pro-life, and that is not what this episode is about. But needless to say, it is a very emotional, heavy-hitting topic for me.


Beyond my personal experience and feelings, I can't help but wonder why there is so much emphasis on albinism at the molecular level, and if this is tangibly going to improve people's lives. In the next section, I'm going to divide my thoughts based on research surrounding the appearance aspect of albinism and the vision aspect. Though, to be very clear, I think these two things are inseparable from who I am as a person. I hate the idea of able-bodied people picking me apart, deciding which parts of my condition are beautiful and which parts need to be fixed. But I think there are unique considerations for research surrounding both of these aspects. So that's why I'm separating them.


I'll start with the vision component because it's obviously the most disabling aspect of having albinism. I think the fundamental question here is, does sight equal quality of life? And with the way that our society is currently structured, I think the answer to that is yes, Blind people are more likely to be unemployed, experience social isolation, and live below the poverty line. But why is that? Is that because blindness is inherently tragic? Or is it because society has such low expectations for those without sight? I believe that we already have the tools to improve quality of life. We have assistive technology, blind training centers, organizations and conventions where people can make connections with those who have similar experiences. But these tools are not available for many people, especially those who are low income. So by providing access and funding for these resources, I think we can accomplish far more than we ever would in a laboratory. Every dollar that is spent researching a cure, which may not even work out or only apply to a certain type of blindness, could be redirected to programs that will actively improve people's lives. Take for example, the National Federation of the Blinds Free White Cane Program, or Together Achieving Dreams, an organization whose founder I interviewed several months ago that is seeking to provide blind students with mentorship and internship opportunities. That's what I'd like to see more of.


There's also a lot of practical considerations to think about, not just for albinism, but all causes of vision loss. There are many people, including myself, who do not want to pause their lives to undergo time consuming and expensive medical treatments. A really interesting case study here is in 2017, the FDA approved a treatment for a congenital form of blindness that would cost up to $1 million. The CEO of this company justified the extremely high cost. By explaining the numerous benefits it had to blind people, allowing them to see again to get their first job. I'll link the article in my show notes as per usual, but I really appreciated the NFB's response to this invention of a cure. They stated that the CEO was relying on “erroneous and harmful notions about the capacity of blind people to live the lives we want.” They argued that blind people experienced such a high rate of unemployment because society has such low expectations for them and because so many people lack access to training for skills like cane travel or braille that would greatly aid their independence. Here are two excerpts that I particularly liked from their response:


“It's not like we've been sitting in rocking chairs for decades and waiting until we can go to the hospital for a cure. Blind people have lives that are as busy and chaotic and full as any sighted person.” They also mentioned that “from a purely fiscal standpoint of getting the most bang for your buck, the government could do so much more good for so much less money by providing vocational rehabilitation.”


If I've learned anything in business school, it’s that there's always an opportunity cost, that there's always something else you could be investing in. And I think that applies to albinism research. We don't know if these research projects will lead to any meaningful findings, but what we do know is that things like sunscreen, monoculars, sunglasses, UV protective clothing, scholarships, all will improve people's lives. There is no doubt about it. The people who are suffering the most because of albinism don’t have access to these basic resources. And even if we were able to develop a hypothetical treatment that cost way less than a million dollars, how could we ensure that it was distributed equitably? I think the largest barriers that people with albinism face are lack of access to healthcare, to basic resources and discrimination they experience in their communities. I'm not quite sure how research in a lab is going to fix that. I'd like to wrap up this section by sharing a quote from Dr. Amy Kenny, the Director of Georgetown's Disability cultural initiative. She says, “It's difficult for non-disabled people to understand how I would rather be disabled than a lab rat.”


I'd now like to move on to the appearance topic, which is far less popular than discussion surrounding improving low vision, but there are some studies out there about it, so I think it's worth mentioning. One article from the National Eye Institute suggests that a certain drug, which I'm not even going to try to pronounce, can increase melanin production in some people with albinism. They theorize that it may be able to help protect people against the sun's UV rays and lead to the development of “normal vision.” This article includes a picture of someone with their eyes blacked out, which is kind of creepy, but essentially this person went from having dirty blonde hair at the beginning of the study to brown hair six months later. One particularly interesting aspect of the study was that they said at the end “because the greatest vision problems for people with albinism occur during the early development of the eye, our eventual goal is to work with infants.”


You couldn't see my face, but I was cringing the entire time. Beyond the vision issue, I truly believe that albinism is beautiful, and the idea of there being less white-haired people in the world who look like me makes me pretty sad. I wrote down in my notes that “I don't want to assimilate. Biodiversity is cool.” I think seeking to change our appearance or even our vision plays into the notion that albinism is an oddity or an abnormality. I don't want to change. I want the barriers that I face and that other people face in society to change. I realize I am incredibly privileged that my appearance, my white hair, my pale skin, doesn't threaten my life. Because for some people in developing countries, where some believe that albino bones and body parts have mystical powers, it does. But instead of a drug I can't pronounce, what I'd like to see is educational initiatives that seek to debunk this harmful misinformation or healthcare access so that people don't die from skin cancer.


Finally, I'd like to share one last quote from Dr. Amy Kenny. This is from her book My Body is Not a Prayer Request, which I highly recommend:


“We need to start thinking about bodies in the same way we think about tulips. No body is better or worse than another body because it is fringed or cupped. Variety isn't just the spice of life. It sustains life variation and allows organisms to survive. Instead of eradicating difference, we should celebrate it.” She then goes on to say, “if we allowed more room for biodiversity, we might come to fully embrace disabled people as bringing their own cultural narrative and embodied wisdom to our communities.”


I recently performed a spoken word piece at Georgetown's Arts Celebrating Disability Culture event, and in the first paragraph I mentioned how human biology was one of my least favorite subjects in middle school. And that's because in those textbooks conditions like mine were merely mutations deviations from the norm. But over the past two years, I've discovered that my blindness is so much more than my funky genes. Like I mentioned in the poem, I think that there is beauty, power, and culture in our technologies, the ways that we've adapted to this inaccessible world. I think it is so much more valuable to embrace blindness as a part of who we are, accept our limitations because no one blind or sighted can possibly do it all, and advocate for our needs rather than seeking to wipe it away with genetic research.


Well everyone, I hope you enjoyed today's episode. I know it was a bit of a heavier topic, but this is something that I really wanted to discuss. I think it's very important to center lived experience and the voices of people with albinism when discussing research about our condition, because when it's only medical professionals and parents making these decisions, they miss part of the picture. On a lighter note, Smalls insisted upon chewing every single Nyla bone in my room. As I've recorded this episode, I would take one away and try to present her with a Kong toy, but no, she would go find another bone.


Anyway, if you enjoy today's episode, make sure to subscribe to Legally Blonde & Blind on Spotify, Apple Podcast, YouTube, and anywhere else you get your shows. You can also follow me on social media, on Facebook, LinkedIn, and Instagram @legallyblondeblind. You can also follow my website www.legallyblondeblind.com for more updates. Thank you all for listening, and I hope to see you soon!88


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