I’m a doctor. I strive to fix things that are broken. Hearts, mostly. But my daughter Ruthie has forever changed my thinking about what needs to be fixed.
Ruthie Weiss, our second daughter, arrived in this world with a shock of white hair. She reminded her mother, Palmer, and me of ourselves as blond children. A few days after we brought her home from the hospital, we nicknamed her Billy Idol.
Palmer began to notice that Ruthie’s eye didn’t track when she picked her up. I pooh-poohed that — spouting something about normal development being on a spectrum — until one day while changing Ruthie’s diaper I saw her eyes moving back and forth rhythmically, like the eyes in those red cat kitchen clocks that were once all the rage. My mind immediately jumped to something I had read in medical school.
UpToDate responded to my search for “infant nystagmus” with a list of mostly horrible neurological conditions. One — oculocutaneous albinism — stood out, making our jokes about Billy Idol seem less funny.
It took Susan Day, a highly regarded pediatric ophthalmologist, under a minute to confirm what we suspected. She examined Ruthie’s eyes then looked at us and said very directly, “Ruthie has albinism.”
That means she was born with very little pigment in the retinas of her eyes, pigment that is needed for vision.
Genetic testing showed that Ruthie had inherited one faulty copy of the OCA2 gene from me and another one from Palmer. This gene is involved in making melanin, the substance that gives skin, hair, and eyes their color, and is also found in the light-sensitive tissue at the back of the eye, where it plays a role in normal vision. She is what geneticists call a compound heterozygote. With two partially functioning copies of the gene, Ruthie makes some melanin, so she has visual acuity of 20/200, meaning she needs to be 20 feet away to see something that most of us can see from 200 feet away.
At the time, our decision to do genetic testing was reflexive. We didn’t give much thought to why we should or shouldn’t do it. We didn’t think about how the information gleaned from genetic testing might change our thinking or the management of Ruthie’s condition. And we definitely didn’t think about the fact that Palmer and I could have done genetic testing before our children were born.
Palmer and I told everyone about Ruthie and her albinism. We were very much aligned that we would not run from the reality. We would embrace it and we would share it. We wanted her life to be as normal as it could be, and knew we had to lead by example.
Early on, I thought about changing the direction of my brand-new lab from one focused on understanding how blood clots form to albinism. But I quickly convinced myself that I knew nothing about the eye and that there was little that could be done after a retina had developed abnormally. So I focused instead on loving and supporting the child I had, and not the one I wished I had.
Our initial fears and regrets morphed into acceptance of Ruthie’s albinism and then into a full embrace of it. Sure, we had concerns. The main one was that she would always be different, an outsider physically (she would look different, she might not be able to play sports) and emotionally (she might not have friends, she might not feel like she belongs, she might get teased).
We began to learn how the world saw differences, and started to think about how we saw differences.
As Ruthie got older, chaperoning field trips became one of my favorite activities. Those trips were one way I got to see what happened when Ruthie moved to the front of the group to see a demonstration or a piece of art. Without fail, this would elicit a chorus of protests from students who did not know Ruthie and naively assumed she was just being pushy. And like clockwork, her classmates would immediately scold them in what became a regular act of spontaneous and beautiful advocacy.
Today Ruthie is a vibrant teenager. She will never learn how to drive and or read normal-sized print without assistive technology, but she is fiercely proud of who she is. And though she still complains about always needing to wear a hat, use sunglasses, and apply sunscreen, she remains steadfast in her commitment to loving herself as she is and seeing herself and her albinism as one.
What my daughter has accomplished, and what she has brought to our family’s life, has made me think a lot about genetic testing — especially preimplantation genetic testing before in vitro fertilization — and the prospect of gene editing and genetic engineering.
In my work in the lab, I spend most of my time with genetically modified mice. I know that modifying the genome of a human is possible, as is modifying human germ cells. But I never seriously thought about using genetic engineering to treat or prevent albinism until November 2015, when I read a tweet from a scientist I did not know but respected:
Prediction: my grandchildren will be embryo-screened, germline-edited. Won't "change what it means to be human". It'll be like vaccination.
— Daniel MacArthur (@dgmacarthur) November 30, 2015
I read it a few times, then decided to respond:
@amy_harmon @dgmacarthur Brings up so many hard questions. My daughter has OCA2. We did not have more kids but would not have screened (1/2)
— Ethan Weiss (@ethanjweiss) December 2, 2015
@amy_harmon @dgmacarthur But when she asks if she can see like the rest of us and just wants to read a book, I wonder if we are stupid 2/2
— Ethan Weiss (@ethanjweiss) December 2, 2015
That exchange set off a long series of conversations with my friends, my family, my colleagues and, most importantly, with Ruthie.
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 have been filtered out as an embryo or terminated. In the future, it’s possible that children like her could be edited or “fixed.”
And here, to me, is the crux of the matter: What is the role of technology in medicine? Before Ruthie, I gave little thought to the distinction between choosing to intervene because we can and choosing to intervene because we should.
We have at our fingertips incredibly powerful tools that will let us do things that were unimaginable even 20 years ago. We can now diagnose genetic conditions before pregnancy. We can select genetically “optimal” embryos. In the near future, we will be able to “fix” the broken ones.
My training as a physician-scientist likely would have nudged me to use technology to remove or fix Ruthie if we had been given the chance.
But having Ruthie in our lives offers Palmer and me a perspective we could not have had before she arrived. We know that Ruthie’s presence in this world makes it a better, kinder, more considerate, more patient, and more humane place. It is not hard, then, to see that these new technologies bring risk that the world will be less kind, less compassionate, and less patient when there are fewer children like Ruthie. And the kids who inevitably end up with oculocutaneous albinism or other rare disease will be even less “normal” than they are today.
But I now realize something that countless others have come to know: Life is a series of random, stochastic events and the lottery that ended up with all of us here today involved chance and luck the magnitude of which I can barely conceive. Palmer and I consider ourselves to have won this game. We are better as parents, better as people, and better as a family to have had the experience of learning from Ruthie. We believe the world is a better place for having kids like her in it, and we want the world to think hard about whether it really wants to go down a path of engineering a world where there are no Ruthies.
Ethan J. Weiss, M.D., is a cardiologist and associate professor of medicine at the University of California, San Francisco. This essay was adapted from a longer one published in the journal Perspectives in Biology and Medicine.
If the same disability had resulted from a car accident, rather than a genetic accident, would you see things differently? If so, why?
That is an insightful point, Ilya.
It’s great that Ruthie has a supportive family and the kids at school understand why she’s different I have to disagree with the conclusion that this article came to. Ruthie may be a great person but it isn’t because of her condition. She can be a good person without being different. I’m sure the elder daughter is just as good a person and is loved by her parents just as much, without any condition. Of course Ruthie is a strong, kind girl and her condition may make her more resilient but it isn’t her parents’ job to cope with what she has to go through. It isn’t hard for them to see or be bullied. If I were Ruthie I would have wanted my gene to be changed if my parents knew it were there. How can you know that she’s a better person because of her albinism? You can’t. Any who, I hope this isn’t rude. I just don’t want people to think being different is the only thing that makes you good and I don’t think parents should make their kids life a little harder with the hope it’ll make them nicer.
Very well said.
You made excellent points.
It’s great that Ruthie has a strong support system but not every individual does. For the disabled it is like running a race with a weight attached to their back. Why shouldn’t they have a chance to compete on a level playing field? Saying that if they had discarded that egg after testing meant they would not have had Ruthie in their life is a flawed argument. Every woman has hundreds of eggs that are never fertilized and born. Should we grieve about the missed potential there? Ruthie would have been the egg that did develop and you loved just as much.
Great point, Allison.
Ethan Weiss is committing a fallacy.
Since he loves his daughter, he cannot conceive of life without her, so he is stretching to justify her disability as desirable somehow.
Yet the reality is that he has “almost had” hundreds of daughters, most without any serious disability at all.
If any other one had been born instead of Ruthie, he would love that other one just as much.
And if that other daughter had been born healthy, it would have been better for her and for the world.
We certainly do not need to condemn babies to a life of suffering so that some strangers can experience their own moral and social improvement.
In fact, if that is the value in Ruthie’s disability, it is a useless one.
Her existence does no such thing for everyone else.
The world is not enriched by the presence of sick and damaged children.
It is impoverished.
Here’s a famous short story by Ursula Le Guin about the corrupt idea of an imaginary society where exactly one child is singled out to live in misery for the benefit of everyone else.
Interesting article. I hav a 19 yo daughter who was dx’ed with
oculocutaneous albinism by her eye doc several years ago. It’s especially funny b/c when she was born, we called her BIlly Idol, too – same reason, a white shock of hair!! One of our struggles is that the eye docs can never get her to 20/20. Not even close. And she is constantly complaining that she can’t see anything with gasses, only contacts. Of course insurance doesn’t believe us so no coverage. Still, we feel lucky she is part of our family, too!
Thanks for this perspective. Choosing not to test or to willingly accept a disability is not for everyone, but I fear the day we deny a life to anyone with any physical condition less than “perfect.” This talented musician, would he have been as talented if he was not blind? Does not his loss of sight enhance his other senses? https://www.cbsnews.com/news/matthew-whitaker-blind-jazz-pianist-18-years-old-60-minutes-2020-02-23/
Hi, Rachel ~
“Choosing … to willingly accept a disability … ”
This parent isn’t “willingly accepting a disability.”
He is “accepting” it for SOMEONE ELSE to suffer from.
“I fear the day we deny a life to anyone with any physical condition less than “perfect.”
I eagerly await the day when every single baby is born free of the suffering and death of genetic diseases.
Not every potential gamete or zygote is going to reach birth, so we might as well select the healthy ones.
“This talented musician, would he have been as talented if he was not blind? Does not his loss of sight enhance his other senses?”
This makes absolutely no sense at all.
Music in some form (such as piano tuning) is a logical pursuit for blind people, so naturally some of them will also by coincidence be talented.
But most great musicians are not blind, and are far happier than blind people, and far more fortunate.
It’s chilling that you endorse blindness for some children so they can provide normal people with entertainment.
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