Some thoughts on the CRISPR story...

I have gotten some really interesting comments and questions today after the publication of Erika Check Hayden’s article on the use of CRISPR to edit the genome of children in Nature. It got me thinking and I decided to sit down and write.

For the record, I am always nervous when I speak to reporters (sorry guys). One never really knows how these things will turn out. In this case, I think Erika did a phenomenal job capturing the real complexities in thinking about how science and technology might affect our lives and our world.

By way of background, I am a physician and a scientist. I have spent the most of the past 25 years of my working life either in a biology laboratory or taking care of patients. I love science. I love the idea of harnessing science to improve human health. In my scientific life, I have witnessed awe-inspiring progress in science and medicine. It is thrilling.

I am married to an amazing woman who happens to be an interior designer. When we got married, we decided that she would take care of the home design and I would take care of the healthcare. I also grew up in the home of a physician. He was and remains a great physician. However, he is an 11 on a 10-point scale of health-related anxiety. At 13, while playing in a lacrosse game in 95-degree heat, I came off the field looking a little peaked. He put his hand on my wrist to take my pulse. The next morning, I was in the office of one of his cardiologist colleagues having an echo and a stress test. I think you get the picture.

My own personal health philosophy is to find the best doctors and to let them be doctors. I don’t want to have to think about my health or the health of my children or my wife. Heck, I don’t really want to think about my dog’s health.

When Ruthie was born with a shock of white hair, we all (the family, doctors, nurses, staff) took to calling her Billy Idol. It was not really a huge surprise to us that she was blond. I was. My wife and older daughter are. My Mom is. So she was a few shades lighter, but nobody noticed. Nobody. Around 4 weeks of age, Palmer came to me worried that Ruthie was not “looking her in the eye” like all the other kids. I patted her on the back and reassured her that everything was ok.

A few weeks later, I was sick. I was really sick, and for one of the very few times in my life, I stayed home from work. It would be nice. I would spend the day with my 6-week old daughter. We spent the day doing what sick 37 year olds and 6-week old babies do. We slept. After waking up from one of our naps, I put Ruthie on her back to change her diaper and looked her in the eye. It’s not like I had not done so before, but maybe I hadn't. I noticed that Palmer was right. She was not tracking. Actually, her eyes were moving back and forth in a rhythmic way.

I immediately knew this was a condition called nystagmus. So I did what I almost never do which was to sit down at the computer and look up “nystagmus in infants” on UpToDate. It took about 20 seconds to scan down to “oculocutaneous albinism” as one of the most common causes. I knew.

I spent the next hour or so trying to figure out how I was going to explain this to Palmer when she got home from work. I finally just decided I would tell her what I knew. So when she got home, I asked her to sit down and I told her that I was pretty sure Ruthie had albinism. To say that she was distraught would be a dramatic understatement. We had a 3 year old and a 6 week old at home so we could not just curl up in the corner and cry, but we spent the bulk of the weekend pretty much doing just that. First thing Monday, we went to see a wonderful pediatric ophthalmologist who told us that Ruthie indeed had albinism. We eventually learned that she has a compound heterozygous mutation in her OCA2 gene, meaning she inherited one copy from me and one from Palmer.

The next few months were an odyssey of medical and psychological adventures. We saw neurologists, therapists, geneticists, dermatologists. We struggled with how to communicate all this to our friends and families. How would we tell our older daughter? How would we eventually tell Ruthie? What was Ruthie’s life going to be like? Would she read? Would she drive? Would she date?

For the most part, people were amazingly supportive. We met a few families with albinism, but mostly, we decided to live our lives and to let Ruthie live hers. For the first few years, the main difference about her and about us was that her eyes moved and she always wore a hat and glasses. When it came time for her to walk, she fell. She ran into things. She was almost always covered in bruises. But she was unfazed. She never seemed to feel sorry for herself and as a consequence, we never felt sorry for her (or us).

As a brief aside, Palmer and I met skiing. Skiing was really important to us. Our older daughter learned to ski when she was 3. On one of our family ski trips up to Kirkwood, Palmer noticed a banner for an organization called Discovery Blind Sports. She met the director at the time, a guy named Jeff Dean. Jeff is special. Fuck that. Special does not do it. When I think about Jeff or when I write about Jeff, I cry.  Jeff told us about his experience guiding blind skiers. He told us about guiding some skiers who were completely blind. Some had no eyes. He convinced us that Ruthie could ski and that she would ski. Jeff has had a massive impact in our lives. He is magic.


Over the years, Jeff and Ruthie became skiing buddies and friends. In fact, in asking Ruthie about whether she would consider hypothetically editing her own albinism, one of her first thoughts was, “but then I’d never know Jeff!”  Ruthie did more than ski. She swam, she played sports, she learned to play the piano. At first, we would blow up the music to almost poster size and she would read it. Later we bought an oversized tablet and now she uses it to read her music. She goes to regular school and while she certainly has her struggles (what kid doesn’t?), she thrives.

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Erika did a great job capturing how Ruthie has been able to do most if not all the things she wants to do. It is true. It is amazing. But one of the critical things that may not have been clear in her article was how Ruthie has affected us and how she continues to affect everyone around her. Who knows how much of it is just Ruthie’s personality and who knows how much of Ruthie’s personality derives from her albinism and how much is just her? These are unanswerable questions.

What I can say with certainty is that learning that Ruthie had albinism was devastating. I am 100% confident that back in 2006, if given the chance to avoid having a kid with albinism, we would not have thought about it for one second. We would have edited it out and frankly, we probably would have terminated a pregnancy had we known in advance. Early on in Ruthie’s life, I briefly considered devoting my research focus to understanding albinism and working toward a cure. It seemed possible what with the progress in gene therapy and the ease of access to the eye. But as life went on, that faded. I don’t know if it faded because I was distracted with real life or if we grew more comfortable with Ruthie. I’m sure it was a bit of both and there was probably an element of, “hey, she’s doing pretty well as is. Let’s leave her alone.”

Where all this gets interesting is that Palmer and I very briefly considered having a third kid sometime around 2008-9. At that time, while gene editing would not have been possible, we very well could have done pre-implantation genetic screening and selected for a child without 2 mutated OCA2 alleles (a kid without albinism). We talked about this very thing. We didn’t talk about it for long as we agreed immediately that we would cherish having another child with albinism.

We did not end up having more children, but that was a watershed moment for us. We realized that this kid we were so distraught over having and about whom we worried so greatly just a few years earlier, was a kid who brought magic and richness to our lives. Our family and friends (and frankly most people who meet Ruthie) have learned to accept and embrace people with all differences. We have learned to be patient and accommodating. Ruthie’s classmates at school have learned to advocate for her when she needs help or when she needs to sit close to the front. Her basketball and soccer teammates don’t even think about the fact that she is legally blind. We have all drawn inspiration from her grit, her determination and her tremendous empathy. We have met wonderful people with amazing stories. We have met and welcomed people like Jeff Dean into our life!

This is a short way of saying that having Ruthie as “Ruthie with albinism” has no doubt enriched the lives of all the people she has met, from her family, to her teacher, her friends, classmates, coaches, and yes, ski guides. When Erika approached me about writing this story, I went to Ruthie and explained the concept of gene editing and asked her what she thought. Remember, she is 9. I really did not know what to expect. For the most part, she has not complained about her condition. There was one moment a few years ago when one of the vision specialist teachers from the school district visited school and brought along a pair of goggles that allows you to simulate seeing with a visual acuity of 20/200. It is pretty remarkable and Ruthie still gets a big kick out of hearing people ooh and ah over how hard it must be for her. On the way home from school that day, she asked us quite casually, “Mom and Dad, do you think they will ever have goggles that will let me see what it is like to see like normal people do?” But those have been rare.

So as Erika related, she did not hesitate to say that she would keep herself exactly as she is. She loves who she is. She gets that she might not drive and that she has to sit in the front row at a movie. But she doesn’t care. She loves her life as it is. She loves knowing Jeff!

Since then, I have thought long and hard about what it all means. Palmer and I have talked about it, and we have discussed it again with Ruthie. For us, the key message is that we are blessed to have Ruthie in our lives. This does not mean that she does not and will not face challenges or that it is not a challenge for us to raise a kid with differences. But the great thing about having a second kid is that we know that raising a “normal” kid is no cake-walk either. We all agree that Ruthie has made our lives richer and that we have grown as people by knowing her and by being around her. And yet technology is now available, or will be soon, that could change things. Again, if we had kids in an era where routine pre-implantation genetic screening existed, Ruthie would not be here.  That is heavy.


So what to do in the future? For one, this is all incredibly personal. Each family comes to these decisions differently. There is no single solution. I certainly can think of many conditions where I think I would choose to edit out a serious genetic disease. I don’t know where the line is, but I know it is different for everyone. What made me agree to help tell our story was the dual realization we had that 1) you can’t know until you know and 2) there is no going back. What I mean is we could not have known how much Ruthie was going to enrich our lives before she was here. And we very easily could have missed out on it and on her. And if we had missed it, we never would have known that we what we had missed. And we would not have known Jeff Dean. Our advice to those considering these excruciating decisions is to talk to people with disabilities and with their families and ask them how their lives might be different. Stop and think. Does this mean we should never consider altering the genome of an embryo? Of course not! Does it mean we should go slowly and think about how these decisions might impact our families and our societies? Yes. Full stop yes. That is our lesson.

Comments

  1. Thank you for this powerful essay. You capture the complex emotions of having a kid with a disability, and the incredibly complicated dilemma of "what if" she had never been born. Your essay resonates closely with me, as I was born with a significant birth defect (bladder exstrophy) and I am a mother of 4 children. I lost a lot of sleep during my first pregnancy worrying that the first one wouldn't have a bladder. Thank you for sharing your story.

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  2. Thank you for sharing and for your kind words!

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  3. Your story is very special and makes us appreciate that each individual brings special meaning to the world - and has a special place. We should not forget this as we scientists advance our knowledge.

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  4. Thanks for writing this. We were upset when we found out Monica had FH when she was 8 years old. Doug's mother had only been told that she had "high cholesterol" and Doug's LDL is only moderately elevated so we weren't aware he had a genetic disease. We adjusted over time to the situation. Monica doesn't seem worried about it and her cholesterol is easily controlled with a statin.
    Marilyn Mann

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  5. I am so proud to call Ruthie and her family our friends.

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