Saturday, February 18, 2017

Having enough

It has been exactly 20 years since I was an intern, yet I remember it as clearly as yesterday. I remember the excitement of July 1. I remember wearing white polyester head to toe, and I remember the first time my pager went off. I remember how it was also very clearly the last time I was ever excited to hear my pager go off. I remember walking downstairs to the emergency room to admit my first patient with an energetic medical student tagging along by my side. I remember one of our patients throwing a full urinal at us. I remember the first time I watched someone die. I remember coding a patient in the elevator. I remember being tired for the next three years.

This was the era when the concept of work hours restrictions was just taking hold. Our class was the first class to be on call every fourth night. Our senior colleagues never let us forget that they took call every third. Their seniors reminded them that they were every second. My Dad reminded me that when he was a resident, call was five of every seven nights. And of course, it was not even 30 years since residents were actually residents and were on call the whole year – all of it l – living in or adjacent to the hospital the entire time. I could (and someday I will) write forever about the various stories from my internship and residency. Twenty years later and they are mostly still so clear. But for this first one, I will tell a story from the end. And all you need to know about the rest is that it was mentally and physically exhausting. Really, it was profoundly exhausting. Yet I learned so much, and somehow, it now all feels good. It feels especially good to have done - perhaps in the way climbers feel after having summited Everest but in other ways too.

First a little background. Our intern class had 32. We were broken into 4 groups. At Hopkins, they called them “Firms” and named them after doctors from the old days. They were kind of the 6th men of Hopkins doctors in that they did not rate having a building named after them like Osler, Welch, Halsted, or Blalock. But they were still important men (yes, all men). I’m pretty sure they had all been Chairs of the Department of Medicine, after Osler, of course. So there were 8 of us in my mini-intern class. We were on the Barker firm. It was named after Lewellys F. Barker. The name should tell you what you need to know. But these other 7 people were important. See, the firm system meant that we had a “home”. Unlike many other programs, we had our own patients and our own floor. We did 6 months of service on our own floor – in this case, it was called Halsted 4 - and thus we got to know the other interns in our own firm extremely well. We also got to know the nurses, the ward clerks, and the custodians. They were quite literally our family.

Call was every 4th night except for the ICU/CCU rotations that were still every other night. The ICU was probably my favorite month of internship despite the fact that I was basically either in the ICU or asleep. I think there was one month of every 3rd night call, but mostly it was every 4th. So what this meant was that you got one weekend off per month. That is, if you were on call Thursday night, you left the hospital Friday evening after you finished your work and came back Monday. It sounded great until it happened. The problem was that I would basically sleep through Saturday, and then I was usually too anxious about being on call Monday to do anything fun Saturday night. Monday call days were the worst, and there was really no way to avoid the pre-traumatic stress disorder of thinking about coming back on Monday to be on call and also have to sort through a group of your existing patients who had been cared for diligently by your co-interns over the weekend.  Unfortunately, they were inevitably never going be tuned the way you wanted them to be. And yes, that is a term we used to use to refer to actual human beings – tuned. And back then, there was no electronic medical record, so there was no way to check on things even if you wanted to.

All this is a long way of introducing how frail and fragile I was by the time I got to May or June. June was thrilling in that it would be my last month as an intern, but it was also probably my hardest month in terms of rotations. The rotation I was on was called Nelson 5 after the floor in the hospital where most of the patients stayed. This was also one of those months that I was not on my home floor with my firm. I was away from my family. I was with strange nurses, ward clerks, interns, and residents.  I was also with strange patients.

The patients were mostly private liver and GI patients. There are no sicker patients in the hospital than liver patients. They taught me that human beings can bleed in ways nobody could even begin to imagine and it is almost impossible to stop once it starts. And since we had but an 8-bed ICU, patients had to be practically dead to get in, so these patients were brutally sick. And then there were the private GI patients. They were not as sick in the physical, bleeding out of every orifice way that the liver patients were sick. Well, I guess many of them did bleed, but it was predictable bleeding that could usually be stopped. I think it was at or just before this rotation that someone introduced me to the concept that good GI doctors were great psychiatrists first, and gastroenterologists second.

Caring for patients on the Nelson 5 service also presented its own set of challenges. We were away from the family. We were strangers. We were used to working closely with our attending doctors, rounding with them, and formulating a plan. The private guys would come by late in the afternoon after their procedures were done and just leave a note – most of the time. They were also not very good about communicating. Actually, they were horrible at it. Most often, patients would just show up on the floor and a strange and usually mean nurse would page to ask you come and write orders for a patient about whom you knew nothing. If you were lucky, you would have 200-300 pages of outside records to sift through. But mostly, you just had to wing it. If you wanted to design the optimal way to torture a young doctor, it would have been the old Nelson 5 service. If you wanted to design the optimal way to rid a young doctor of whatever shred of compassion, empathy, caring, or energy they might have had, this was it. Truly.

So sometime toward the middle of this, my last month of internship, I was on call. I was pretty much done. Patients were literally going back and forth between the ICU and the floor and those who were on the floor really did not belong there. I think I was carrying 10-12 and really just could not keep up. I was fried and I’m not sure that is really even strong enough.

I remember the call day pretty well. The early mornings on Nelson 5 were usually not too bad, because few of these patients would just show up in the emergency room. So there were rarely hold-overs from the night before or early morning admissions. Those showed up later. But there was work to be done. Being on call was really as much about preparing for what might happen as it was about what actually happened. Most of us worked feverishly to get our work done before the new patients started coming in. That meant, rounding, writing notes, writing orders, setting up tests, discharging patients who were ready to go home, and doing procedures. I think the first patient arrived early in the afternoon. I think I even had a warning from one of the nicer liver attendings. The fact that she was a she probably had something to do with that. But the patient was still a liver patient and they were in the hospital so that meant they were sick. And that usually meant they were bleeding or could bleed which made doing any of the many things we did to patients - such as sticking long needles into organs and cavities - that much more complicated. Before doing anything to these patients, you had to replace the coagulation factors that their poor sick livers could not make, so that they would not spew blood when you put the needle in their belly to drain a fish tank’s worth of fluid from it.

Part of the problem with all these procedures was that they took time. You had to get all the stuff, which included the needles, tubes, and bottles we used to collect the fluids. You had to arrange to get the clotting factors from the blood bank and whatever sedation you might need or want from pharmacy. But you also had to print the labels using one of those old-fashioned credit card machines, one by one. You had to find and then fill out the right forms. Everyone had their own set of things they wanted to test for, and there was no such thing as an order set. But this assumes you could actually find the patient or the chart. The chart was usually with the patient, but they (the patient and the chart) might be in x-ray or ultrasound, or in the endoscopy suite. There was no tracking system and it was a big hospital, so we spent a lot of time quite literally roaming around this giant old hospital looking for our patients. And there was no doing anything at all without the chart.

This particular afternoon, I almost certainly had a procedure to do. I can’t recall exactly, but I would bet $100 it was a paracentesis, which is the procedure I described above where you drain liters of fluid from a patient’s distended belly. These were the worst procedures. They took forever. They were dangerous. You never knew how much to take out. And of course you had to do this in a sterile fashion so you would not infect the remaining fluid (which we were told is really the perfect culture medium) if it was not already infected. So that meant that you put on a gown, mask,  and sterile gloves all while you were standing there draining the fluid which could take an hour or more. Meanwhile, your little friendly pager would sit there and go off - incessantly. We learned to take our pagers off and put them at the bedside so if anyone ever did come into the room, you could ask them to look at it to make sure it was not a critical emergency. Otherwise, you would end up in the awkward position of having a nurse or fellow intern mount you from the rear to reach around and under your gown to grope your belt area to find and free your pager.

Needless to say, the sound of the pager meant work, and so hearing it go off while you were helplessly tethered to a very sick patient with a large tube in their insides draining straw colored fluid into big glass bottles was not a positive or enjoyable experience. The only good thing about this is that these patients were usually encephalopathic which is a fancy way of saying that their brains were not working well because of all the toxins their livers were not clearing. So they usually just lay there and occasionally they would moan. If they were combative, you’d have to have help restraining them either physically or chemically. These were the days before the term conscious sedation existed.

When this procedure was over and the patient was bandaged and properly put back as I had found them, I went to my pager. It was not something I looked forward to, but it was necessary. Usually, I would do this as I was taking the precious body fluids I had just removed to the lab myself. There were no cell phones back then so I would occasionally stop along the way to make or return a call. One of these calls was from a nurse on Osler 3 (yes, that Osler). Osler 3 was physically the farthest away from my home floor (Halsted 4) of any of the medical floors. It was home to the Thayer Firm. I hardly ever had patients there. I found it kind of creepy. It smelled. And I did not know anyone. It might as well have been another hospital.

So this nurse informed me that a private patient of one of the GI attendings had arrived in transfer from a hospital on the Eastern Shore. I asked her what he or she was being admitted for. She (the nurse), said she did not know. That was not a good sign.

I eventually made my way down to Osler 3. I stopped at the nursing station to look at the telephone book’s worth of outside records. I was patiently sifting through them when my pager went off. It was Osler 3. See, they did not know me so they did not know that they did not need to page me since I was sitting right there. Apparently, my new patient was not happy, so I was invited to go talk to her. I put down the pile of papers and walked down the hall to her room. From a few doors down, I could hear people yelling. I think my head hurt. I walked into the room to find a woman who was probably in her early 30’s. She was laying on top the made hospital bed. She was in one of the rare single rooms in the hospital at that time. Standing next to her was a heavy-set man with a large beard wearing a leather jacket. He looked like a biker. He looked mean. As I walked in the room, I paused to introduce myself. Before I got through the first syllable, the man interrupted me and started to yell very loudly that the room was unacceptably dirty. He pointed to in the general direction of one corner of the room and demanded that they be transferred to another room.

Now this was an old hospital and it was far from lavish. In fact, I am not sure I would ever characterize it as clean, but it was also not really dirty. I walked over to the spot he had identified and saw what looked like an old stain on the paint. Again, this building was probably 75 years old at that time. The stain was very likely from the 1950’s. I think I apologized and said I would need to walk out to ask the nurses if it would be possible to transfer them to another room. I recall that they were extremely hostile to me as I left, promising I would be back, but also hoping I never would.

I got back to the nurses station and eyed the pile of papers I had barely begun to read. At that point, my pager was going off almost constantly with new patients arriving, nurses calling about other sick patients, and of course at some point, my fellow interns calling to ask when they could come sign out their own group of very sick patients to me. I remember many things about internship, but the one that will never go away is that utterly desperate sense of loneliness when on call.

So I eventually remembered why I was there and found the charge nurse to tell her of my new patient’s complaint about the room. I asked her if we could move the patient. And her response was unintelligible over the roar of laughter from her fellow nurses. I asked if we could get housekeeping to come back to clean the room. I think she said, “sure” and walked away.

I scooped up the pile of papers and walked back to the room. I told the patient and the bearded man I later learned was her husband that moving was not possible, but that housekeeping would be by soon to address the issues in the room. I asked if in the meantime, I might sit down and talk with them about why she was there. Well that set off a firestorm of anger about why I did not already know she was there. I think they might have asked to speak to my manager or something. Or maybe that is just a memory from my days working at McDonalds in high school.

I eventually convinced them to let me sit down and take a history and examine her. I really don’t recall exactly what she had, but it was some variation on functional bowel disease.  She had been through almost a dozen doctors and was in and out of hospitals all the time with “failure to thrive” despite the fact that she apparently had a normal body mass. Anyway, I learned that she had been transferred here for “urgent” upper and lower endoscopy, which meant that she was going to have to have a bowel prep. It became clear to me that this news was going to be new to her and that she would not likely take well to the gallon of Go-Lytely that was coming her way.

I should also interject here that the 1990’s represented a transition of sorts in the severity of illness of hospitalized patients. It was around this time that the practice of admitting patients to the hospital for a work-up or for an outpatient procedure became something insurance companies decided they would not pay for. So it was at this time that things changed. In the mid-90’s, it had mostly shifted, but there were still a small percentage of these old-fashioned patients who would never be in the hospital today. In some ways, it is easier to manage just one kind. That is, if all you have is critically ill patients who clearly can’t be treated elsewhere, there is internal consistency. If, on the other hand, all you have are the “here for a work-up” kind of patients, that too is something your brain adjusts to. But managing both was hard.

I finally made my way out of the room by early evening. At this point, I was on my own. There was no time for dinner, so I did what I typically did when on call which was to go to the vending machines and grab what I could eat while walking. I made my way through the rest of the night without too much in the way of drama. I heard from the Osler 3 nurses just about every hour mostly for them to complain to me about how my patient – now well into her bowel prep – and her husband were treating the nursing staff. I probably did manage to get to the call room and may have even shut my eyes for 20-30 minutes. I found that even this small amount of sleep made a great difference in how things went for me post-call. I also managed to take a shower which is something I had learned early on in my internship was the single most important thing that kept me from being admitted directly to Meyer 5, the inpatient psychiatric ward. So unless it was actually impossible to shower, I always did. Showers were much more valuable to me than sleep.

Post-call was always a haze. Again, at that time, most of us wore our uniform of white polyester pants, a shirt and tie, and the short white polyester coat reserved for interns and medical students. Just about this time, the practice of all residents wearing short white coats had been abandoned. Only interns and students still wore them. It was a mark of inexperience. The thing about polyester is that it is hot. It was June – in Baltimore. And despite the shower, I was usually hyperadrenergic in my post-call state. This all combined to make for a sticky mess. It also led to painful friction and rashes all over my thighs that really made this hellacious experience even worse than it should have been.

After my shower, the first thing I did was to go and pre-round on my patients before morning rounds. This was a way of making sure there were no surprises when we came by later. I recall having the sense to save my Osler 3 patient for last, and I also recall trying to think of ways I could avoid going there. Much to my surprise and very much to my liking, when I got there, I found an empty room. The nurse wandered in to tell me what I already knew which was that she was already at endoscopy.

Fridays were a special day for a couple of reasons. First off, we had Grand Rounds – a gathering of the entire department in a huge old medical theater. Mostly there were talks from our own faculty, but we also had outside lectures. It was a pretty majestic experience, and everyone was there. It was also something we all really looked forward to as much for the community as for anything else. Second, we had what we used to call “Osler Lunch”. This was a tradition of having a housestaff only lunch (just interns and residents) in the old doctor’s dining room. Yes there was still such a thing. This was my favorite hour of each week. It was the one time we could come together without any program or teaching or other distraction and just sit and tell stories and laugh and support each other. It was really precious.

Sometime toward the end of lunch, my pager went off. To be honest, it was pretty much going off all the time, even more frequently post-call. But in my head, I have created a magic window during that one hour of Osler lunch when it did not ring.

Pages are an interesting thing in and of themselves. It would be fascinating to do fMRI on a group of residents getting pages from various places. At Hopkins, everybody knew the one that triggered the most viscerally negative reaction. I think I still remember the feeling just typing the numbers – 2280, the emergency room. But one of the great things about being post-call (aside from the fact that I was going to be away from this place for at least 48 hours) was that you would never get a page from 2280. Or if you did, it was a mistake. And once you got over the unavoidable reflex response, a mistake page from the ED was maybe even better than not getting a page at all.

I have no idea what this page was for, but it meant lunch was over. I went back up to the floor to deal with the tremendous amount of work that stood between me and my bed. This meant organizing discharges, ordering and compiling tests, and on the Nelson 5 service, it likely meant procedures. Nothing at all was worse than a post-call procedure. It was hard enough when you were awake and capable, but being post-call was like being drunk. Just simply finding and organizing the things one needed to do a procedure was harder and took longer – let alone actually guiding a needle into a body cavity.

As I remember it, I was in a patient’s room doing a procedure sometime around 2PM when I got a page from the Osler 3 nurses. I don’t think I answered it immediately. I was sterile. When I finally did return the call, they informed me that my patient was back and was angry they had not seen me or any other doctor all day. Now recall that I did go by there at 7AM to pre-round, but she wasn’t there and she did not know it. And the rest of the day, she had been at the endoscopy suite or in the recovery room. All of this was made worse by the fact that she was hungry because she had not eaten since the night before.

So eventually, I made my way back to Osler 3. I most certainly did not look forward to it. I was tired. I was acutely tired and I was chronically tired. I had acute on chronic fatigue and I was not strong. I also made the terrible mistake of not bringing food or at least having a plan to get food. Well anyway, I did eventually get to the room and much as I had expected, I was greeted with a cacophony of hostilities. I don’t think they threw anything at me but it felt that way.

“Where have you been??”
“I’m hungry. Where is my food?”
“This place is horrible. Where is your manager??”

Getting yelled at is never fun. But getting yelled at in my condition and under these circumstances was particularly not fun. I think I found a chair and sat down. And I might have even closed my eyes. I certainly tuned out the yelling. But in my head, a movie was playing. And in that movie was the past 24 hours of my life. The movie included all my other very sick patients and how hard I had been working, and how tired and sad and lonely I was and how this experience I was having outside the movie was dreadful and horrible and how I wanted nothing more than for it to stop. I don’t think the movie included any sense of how this patient or her husband felt. I had no empathy for them. I just hated them. It was sick.

So at some point, the movie ended and I came back to that room on Osler 3 where I was still being yelled at. I think I might have interrupted them and stood up. And what I said next went something like this:

“See, I realize you are mad, but what you don’t realize is that I have actually been doing my best to take care of you and all I have gotten from you is abuse. And see, I have lots of other patients in the hospital who are actually sick, and I can’t believe I am here wasting my time being yelled at by you.”

At that point, there was a pause. It felt like a long pause. And then as if I had pressed a button that activated a program, they immediately began to gather their things and pack them into a suitcase. I stood silently and watched them pack and then walk out of the room and down the hall toward the elevator. It felt like it was all happening in slow motion. I don’t think they said a word to me and I definitely did not say a word to them. When they were gone, one of the nurses came and put her arm around me and quietly whispered, “Thank you” into my ear.

I was numb.

At some point, I must have found my resident, or he found me after having learned what happened. I really don’t recall anyone yelling at me or being mad or angry. The private GI attending was likely angry, but he was nowhere to be found. Somehow, I managed to finish the rest of my work and go home. I slept all night and well into the next day.

I returned to the hospital Monday morning to be on call (again). I also got a message that my program director wanted to see me. My resident took my pager and told me to go to his office. When they took your pager, it was serious. It did not happen often.

I don’t recall the specifics of how the conversation in the program director’s office went. I think I told him my version of the story. He was a very quiet man and said very little. He listened intently and then said thanks and that I could go. I don’t think I asked what was going to happen to me. I don’t think I cared.

Honestly, I am not sure I ever heard about this whole thing again. I think they understood that I understood that what I did was wrong. But I also think they understood. So there was nothing else to say. I finished my intern year and went on to be a resident and that was it. But that experience and that story stuck with me. There are so many lessons and so many meanings, but just as my program director let me go without walking me through all of those many issues, I will let you go without doing the same.




Thursday, November 17, 2016

The Death of the Physical Exam

I recently saw a young man who had experienced a short run of atrial fibrillation (an arrhythmia) during an elective outpatient surgical procedure. His primary care doctor wanted help with the arrhythmia and so sent him to me for a consult.

He had no significant medical history, and he was active and completely asymptomatic.

I took a detailed history and performed a physical exam. On my exam, I heard a diastolic heart murmur very suggestive of aortic regurgitation. It was not subtle. I asked him if he had ever been told he had a heart murmur. He said he did not know what a heart murmur was.

I sent him for an echocardiogram and the echo showed that he has a bicuspid aortic valve, severe aortic regurgitation, and an ascending aortic aneurysm.  The normal valve has three cusps, but some people are born with two of the three fused together. This is a genetic condition that can lead to degradation of the function of the valve which can cause it to be incompetent and leak. Leaky valves can lead to failure of the heart muscle. Some people with bicuspid valves also have a ballooning of the aorta just after the valve (an aneurysm). This is has a high likelihood of rupturing when it gets to be too big. Rupture is almost always fatal.

He needs surgery urgently. If he gets surgery, he should do very well. His heart muscle is still strong, and replacing his aortic root will prevent it from rupturing.

This is a young man in his early 30’s. I can’t begin to estimate the number of people who had listened to his heart before I did. At the very least, the anesthesiologist and his primary doctor had just listened in the past few weeks.

If he had not had elective surgery, he would likely have not been found to have atrial fibrillation.

If he had not been found to have AF, he would not have been sent to me. If he had not been sent to me, he would not have known that he has a life-threatening medical condition that needs surgery urgently. In that case, he would likely have just died suddenly.


This would have been entirely preventable. Either we need to get better at teaching the physical exam again, or we need to find a viable alternative.

Tuesday, February 23, 2016

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.

video

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.