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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.

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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.”

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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:

I read it a few times, then decided to respond:

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.

  • I have a son with Down syndrome. He is a wonderful, engaging, social young man who is beloved at his school and in the community. We would be happy if our son didn’t have Down syndrome, but we love him unconditionally just the way he is. The solution is not to genetically test and then “eliminate” Down syndrome by aborting babies with the condition, but to find a treatment for Down syndrome. What an awful world it would be if our answer to any genetic medical issue would be to “eliminate” the embryo. Every family must make their own decision, but our lives are enriched by diversity of all kind. Thank you to the author for a wonderful piece!

    • Hi, Vern ~

      Naturally you love your son and can’t imagine life without him.
      And it’s also natural for you to enjoy anything positive you can find in the situation.

      But you would love a normal son just as much, and have fewer heartaches.
      If you could choose to have a child without a grave genetic defect that cannot be treated or cured, that will last from the moment of birth to the last day of his life, and which is a devastating, life-spoiling condition, I suppose you would not deliberately inflict it on any child of yours — not even if your child could be considered to exist for the sake of the moral and social uplift of strangers.

      Your beloved child is lucky to have parents like you, and you are lucky to have him in your life.

      But still, the decision to abort is made hundreds of times a day for reasons that are less drastic than Down’s — which is not a bad reason for an abortion. In fact, it’s a decision that good people make all the time.

      Best wishes to you and your son!

    • Vern, gene editing is not about aborting the embryo or fetus but about “fixing” the gene that is causing the disability. So that the baby will be born healthy. And of course, finding treatment to use after birth would be ideal. There is nothimg being said about terminating the pregnancy.

      In IVF, there is a way to select the healthiest embryos and use one without any genetic defects for implantation. IVF has its own set of issues that many disagree with, but the bottom line is that all of the embryos are not going to be implanted, so choosing the healthiest is now possible.

  • Someone commented that deaf people do not want a cure. Where did that idea come from. My mom, daughter, and I are hard of hearing although not yet stone deaf. we would do anything or pay anything to hear, as would my friend who is even deafer that i am.
    she saysshewould wear Micky Mouse ears if they would make her hear. I’ve had a cochlear implant and wear a hearing aid in the other ear and still have only 70% hearing. It is Not a condition to be joyous about, or to make my family learn compassion or anything else.

  • @ Pete Shanks

    Hi, Pete ~

    You said:
    “[Anna Graystone and Roxanne Nelson] are apparently both certain about the patient’s views. Perhaps you should reconsider that.”

    My response:
    Maybe we should ask the afflicted children.

    Have you seen the heart-breaking video from the mother of the Australian child suffering from dwarfism?
    He was home from school after bullying about his height, and he can be heard in the background sobbing “Give me a knife! I’m going to kill myself!”
    He is seven years old.

    The proximate cause of his despair “every day,” according to his mother) is the bullying, but in fact bullying is just another consequence (a social consequence) of a disfiguring disease, along with its physical consequences.

    As he gets older, the older teens and young adults will no longer mock him openly.

    But they still won’t date him, and no one will marry him.
    There will be many hidden stares as he walks along the counter reaching up for his food in the campus dining hall.
    He will often encounter awkward physical and social situations throughout life, no matter what his achievements elsewhere.

    What do you think a little boy seven years old feels about his genetic defect — one that makes him say “Give me a knife! I’m going to kill myself!” ?

    What conclusion do you come to when YOU “reconsider,” Pete?
    Do you think he’s happy about it?
    Do you think he would have preferred to be cured even before he was born?

    • Bullying is never an acceptable reason for that kind of medical intervention. Period. Imagine if we were talking about anything else instead. LGBTQ kids get bullied. Black kids get bullied. But, obviously, saying that means we should “cure” gayness or eradicate black people is effectively endorsing genocide. “People make fun of them” is not a reason to destroy a social group.

      And yes, ask the people with that condition. It’s the only reliable way. People with chronic pain or blindness or Huntington’s or depression typically want a cure, and would have no problem with it being eradicated. Deaf people, autistic people, people with dwarfism generally do not. The problem there is society.
      If everyone knew ASL (which, by the way, is a complete ******* language with its own grammar [closer to japanese than english] and culture, not signed english), Deaf people would have no trouble functioning. “Not being able to hear non-speech things” is about as disabling as needing glasses. Therefore, pretty much all the things Deaf people deal with are a result of a language barrier. And eradicating a language and a culture in the name of assimilation is genocide, no different than if it was Spanish- or French speaking kids.

    • @ Aidan Chappuis

      Hi, Aidan ~

      I’m going to assume you are trying to be sarcastic.

      I can’t think of any other humanitarian response to your claim that curing a child’s deafness is genocide.

    • Aidan, you leave me speechless. Eradicating deaf people is genocide? There is a deaf culture and some people who are very adamant about it, but that hardly speaks to the entire worldwide population of people who are deaf who undoubtedly have very different views on the topic–including those who would love to hear.

      And autistic people–that’s a spectrum, and the ones who are vocal about their neurodiversity tend to be very high functioning with minimal or no physical symptoms. GI disorders are nearly eight times more common among children with autism than other children, some of them quite severe. About a third of autistic children have epilepsy. Many cannot communicate and have meltdowns out of frustration–the rocking, banging their heads, etc. ADHD affects an estimated 30 to 60 percent of people with autism, and they also have higher rates of depression and anxiety disorders (42%). Let’s see, there’s also disrupted sleep, eating problems, obsessive compulsive disorder, bipolar disease…But hey, curing these symptoms would amount to genocide, at least in your mind. How about you live with severe bowel inflammation and epilepsy for a while and then you can discuss how wonderful it is to be afflicted. Let’s throw in anxiety and sleepless nights.

      And dwarfism. Its generally caused by a genetic mutation or growth hormone deficiency, its not a race of people. And besides being very short, depending on the type of dwarfism, they can have skeletal issues requiring surgery, severe osteoarthritis in their hips, etc.

      To suggest that trying to cure or prevent any of them equates to genocide is really a sick joke. I would guess the the vast majority of parents would do whatever they could to help their children, whether it meant treating them before or after birth. All those mass murderers! The horror!

    • You seem to think that using sign language is the answer to deafness. If I were to learn to sign, with whom would I use it? Most people do not use it. I have a pretty normal life with non deaf people and I don’t know anyone who signs. Am I to leave my life and try to find a whole different community? You know not of which you speak. Most of us hard of hearing people just bumble along and joyfully avail ourselves of closed captioning, and hearing devices that are in many public places now.

  • After three generations of two cleft palate and one cleft lip and palate, I am very proud of my granddaughter for getting her tubes tied. She had a cleft lip and palate. She endured an outrageous number of surgeries to repair the most aggressive deformity the children’s hospital had ever had. Her surgeries and orthodontic appliances, combined with sinus trouble, rhinoplasty and hearing concerns all compounded with a weak upper gum line and missing
    and deformed teeth. She adjusted and accepted all challenges, but has said for years she would never put a child through what she endured. We have the “gene” that all doctors said was a random defect. Most cleft defects are random, but not ours. I think her decision was the right decision. I think gene selection and research would be the right decision as long as the testing was before any pregnancy not after with the choice being abortion.

  • Ethan,
    Thank you for sharing this important perspective on when we should fix vs. if we can fix. My son has a fatal rare disease : Menkes Syndrome. I once spoke on a panel with Daniel MacArthur. I hadn’t seen his tweet until you posted it. I’m not sure how to feel about it. I have though alot (like you) about if we want a cure. We definitely want Menkes Disease cured. But for our own son, what would a cure do? If we could gene edit him to “fix” him, is that a good plan? My thoughts are here:

    https://courageousparentsnetwork.org/blog/the-cure-we-dont-want

    • @ Daniel

      Hi, Daniel ~

      I read your post about your son.

      I’d like to point out that a fear of unintended consequences of a novel treatment may well make any parent pause — and even decline — the treatment.

      No parent wants to risk making a bad situation even worse.
      Naturally, each family will come to a different decision when they balance the possible risks against the possible gains.

      However, your point is not the same as the point Ethan Weiss made.
      He argues that he doesn’t want a cure IN PRINCIPLE — not because of the possible damage from unanticipated side effects.

      It is his view that his child’s disability is almost jolly because it causes the moral and social improvements of others.

      He implies that he would reject a cure even if it was certain to have no bad effects.

      Your concern is an extreme example of the concerns that all parents (and all patients) must address: Should I or should I not accept the risks of side effects in exchange for the opportunity of benefits?

      Ethan’s concern is that — rather then enriching the world by providing us with one sick child fewer — ending his child’s suffering would impoverish everyone else.

  • Your story is appreciated but albinism versus Huntington’s Disease or MJD or many other awful deadly dominant genetic diseases which drain families of everything they have should be an individual decision as far as embryo selection
    And that decision should be fully respected

  • I think it is cruelty to let a child be born with massive disabilities. Some people say they are happy, but having known one who said he wished he could have a brain transplant, (he has fetal alchohol syndrome) , I beg to differ. When a whole family is centered upon care of a child who is little more than a vegetable in an adult wheelchair, what happens to the other children , and the parents, in the family, not to mention the poor kid who should never have been born and has a miserable half life if he or she is even aware of it? Years ago, such babies were simply set aside, letting nature take its merciful course. I don’t know if this is still happening or if “do gooders’ insist on “saving” them, which benefits the saver, not the child.

  • Thanks for your thoughtful article. I am a Ph.D. with 20 some odd U.S. Patents in DNA synthesis and sequencing technology. My wife and I tried to conceive a child for 7 years, but found my wife’s fallopian tubes were too scarred, and then she had a scary as all hell ectopic pregnancy. We adopted my daughter at birth, which was induced a month early because of “failure to thrive”. She did not develop as expected, with learning and physical differences, and repeated illness. Only at the age of 15 when she hadn’t yet had a period did we learn she had Turner’s Syndrome, a missing second X chromosome. She has struggled with Diabetes and other health consequences, and learning differences, and social problems, but she is now at 29 years old a sweet young woman that is capable of living her life independently and with full confidence. None of us can ever take credit for the genetic gifts we are given, nor blame ourselves or others for the genetic differences that most would not call gifts. One or two random nucleotide differences at birth and I could be out on the street here in SF begging for spare change.

    • @ Garet ~

      Excellent, pointed question, Garet.

      I just hope the child is a joyous about being disabled, never looking okay to her peers, unable to read or drive, unable even to see normally — I hope she is as joyous about all that as her parents are.

      I hope she thinks, like they do, “Thank goodness I have this incurable, permanent, life-changing disability! Now I can be an object lesson for the moral and social improvements in the perspective of various random strangers.”
      —————–

      Hey, Garet ~
      What do you want to bet that she has cried herself to sleep in despair and sorrow, or that she would leap to fix this if she could?

      If it were possible after she was born, her parents would have been legally and morally compelled to cure her condition — but apparently not before she is born.

      I guess that her parents think that only AFTER she is born (when in fact it is too late) should she be treated if it had been possible.

      Speaking for myself, I would do anything to spare my daughter this lifetime of disability, and I wouldn’t care how old she was … 6 months after she was born or 6 months before she was born.

      But I guess I just don’t have that advanced spiritual perspective as her father Ethan.

  • You said:
    “But having Ruthie in our lives offers Palmer and me a perspective we could not have had before she arrived.”
    My response:
    This is not a reason to have a disabled child. The child does not exist and suffer in order to give you “a perspective.”
    If you have a child with a disability, it’s good to make the best of it.
    But there are no actual benefits in having a child who is disabled.
    ———-

    You said:
    “We know that Ruthie’s presence in this world makes it a better, kinder, more considerate, more patient, and more humane place.”
    My response:
    That is not what a child is for.
    It’s good to make the best of a bad situation, but it is better to avoid the bad situation in the first place.
    ——————

    You said:
    “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.”
    My response:
    Not only is this not necessarily true, it is just not what children are for.
    ————–

    You said:
    “And the kids who inevitably end up with oculocutaneous albinism or other rare disease will be even less “normal” than they are today.”
    My response:
    Wait! Won’t such kids be born with rare diseases in order to be an object lesson for the moral and social improvement of others?
    If so, as you have been advocating, the fewer there are, the more they can perform the reason for their existence.
    After all, if children with disabilities were common (instead of rare), there would be so many that no one would even bother to become compassionate.
    Right?

    • I suggest you read the longer version of this article, which is linked at the end of this piece. One quote from it reads: “Ruthie, now 13, is very proud of who she is, and at least for now feels strongly that she is who she is because of her albinism and perhaps despite it. And while she still complains about her hat and sunglasses and sunscreen, and while it’s obvious she thinks hard while watching her 16-year-old sister learn to drive, she remains steadfast in her commitment to loving herself as she is and seeing herself and her albinism as one.”

    • Pete Shanks–I read the entire article. Ethan is not talking about accepting yourself for who you are, and indeed, that is the only thing that Ruthie can do at this point. So it is great to hear that she is doing well. But he is advocating that we don’t “fix” the genetic mutations if we have the ability to do so, or select a healthy embryo, etc. There is a big difference in your interpretation of it. If given a choice, I’m sure that Ruthie would jump at the opportunity to “fix” her vision, if a procedure became available. And I’m sure she would chafe at the fact if her parents had gene editing available to them, and didn’t use it.

      And of course, the really big issue is that Ruthie’s disability is relatively minor in the grand scheme of things. She can live a normal life and her vision is impaired but she can see. Ethan very nicely avoids talking about children who are severely disabled, or die in utero or shortly after birth. Does he think that enriches the world? He is a cardiologist–does he care for people with genetic heart defects? Isn’t that going against his philosophy then, ie, trying to “cure” those wonderful defects? A heart transplant??? But that will make you healthy, and diminish kindness and compassion in the world. The horror! I think Ethan needs to get off his podium and step into reality, and perhaps, go and work at a facility that cares for sick and disabled children. Then he can see the wonders of his philosophy in real time.

    • @roxanne nelson: I was reacting to the offensively sarcastic suggestion by Anna Graystone. She and you are apparently both certain about the patient’s views. Perhaps you should reconsider that.

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