Quiet Call Day

Today's been really a quiet day. One of the things that I love about being on call in the NICU (OK, I just generically love the NICU) is that there's bedside nurses for all of the patients. If I want the nurse, I can just walk to the bedside and talk to her (there's about four male nurses in a cohort of several hundred NICU nurses and none of them are working today.) This is great for collaborating with the nurses on the plans, and also just creates a really nice work environment. I know most of their names (on my side of the NICU there's two residents, about 5 NPs and probably 75 plus nurses; I try to know all of their names, but it's hard.) They all know me. If I want something, I can go and talk to them face to face, without needing to call or page to find them. I walk around every 4 hours, or so, to check in and it goes quickly and I feel involved and in the loop and like a good doctor.

Most floors aren't like this -- most floors some nurses change at 7am and some at 11am and some at 3pm and some at 7pm and some at midnight and it's hard to know which nurse has whom and if you can't find the nurse, there's a million places where s/he might be. It's harder to be a team.

Since it was so quiet, I was chatting a lot with the nurses, mostly about them and their lives, but also about being on call and what it's like. The fact of the matter is that I like my life with call a lot more than any of the alternatives. I like that for a total of 28 hours, I'm really the doctor for these babies (I have a fellow and an attending, but they're mostly only involved when I call them.)

And there's an asceticism to taking call that can be very rewarding in an odd way. Expelled through the hospital doors in the morning, sleep-deprived, blinking in the bright sunlight, having been in artificial lighting for the last 28 hours, shockingly warm after 28 hours of frigid air-conditioning, you feel reborn into the world. Little pleasures like breezes and being able to eat whenever you feel like it feel poignant.

It's my last call for a month, before I go to the emergency department. I'm a quarter done with calls for the entire year (an advantage of being in genetics) and at the end of the year have nearly five months with no call...I think I might miss it a little.

Three things I've learned today this week
1. Congenital diaphragmatic hernias - are associated with pulmonary hypertension
2. The differential for congenital diaphragmatic hernia is eventration, where the diaphragm is weak, but not truly herniated
3. Hypokalemia can, in and of itself, cause an electrolyte-wasting tubulopathy

So one of my patients was just* diagnosed with cancer. The psychiatrist e-mailed me. The psychiatrist, because we'd thought that all of her symptoms were related to her (overwhelming) anxiety and rushed her out of the hospital.

(*N.B. this post was quarantined for several months, in addition to changing of several possible demographic features to ensure that there is no clear connection to any specific patient)

I had inherited the patient from the previous intern when I came on, which is always hard, because you don't really get your own first impression. My attending had felt really strongly about the psychiatric nature of her symptoms and about rushing her out of the hospital. I wasn't sure I agreed, but I didn't have a strong sense of the patient and my attending was very strong willed. On the second to last day of her admission, I talked on the phone with the psychiatrist and she had said to me: "you know, I'm still not convinced that all of her symptoms are psychiatric" and I'd replied "off the record, I'm not sure either."

But to be fair, the next words I'd said were: "but I am convinced that she has nothing physiologic that is rapidly progressive or threatening her well-being or will benefit from an inpatient admission." And that, even with the retrospectoscope, I completely stand behind. I'm not even convinced, even now, knowing that we're discussing a patient with a metastatic malignancy diagnosed one week later, that any of the symptoms for which she was admitted have anything to do with her cancer. (She got diagnosed after presenting with a totally new symptom a week after discharge)

You hear these horror stories of missed cancer diagnoses, by Horrible-Bad-Doctors and think "how could they not have known." And the answer, at least in this case is two-fold
1. Patients with high levels of anxiety and high levels of somatization bombard you with every complaint that they can think of and every possible diagnosis that they read in the internet and it's hard to see the forest for the trees. You think "well, I can't think of a diagnosis that contains all of those symptoms" and "all of the diagnoses that this patient has suggested don't fit" so you dismiss the entire package. And 99% of the time, that's the right response. But even hypochondriacs and patients who somaticize develop true organic illness, buried among the somatic complaints.
2. The goals of a hospital admission from the point of view of being a doctor are different than the goals of a hospital admission from the point of view of being a patient. As a doctor, a patient should be in the hospital only so long as necessary to establish a safe discharge (in which airway, breathing, circulation and hydration/nutrition can be accomplished.) It's my job in the hospital to make sure that the patient doesn't have anything rapidly progressing that would make them unsafe, but not my job to diagnose every symptom. Diagnosis is largely left to the outpatient realm.

It's still scary. I'm glad someone diagnosed it.

Three more things

This afternoon, after call, I went to a lecture by my department chair on the history of inborn errors of metabolism. He focused on how the discoveries leading up to the modern understanding of inherited genetic diseases revolutionized how humanity thinks of itself. Namely, the idea that inherited characteristics and even more specifically, the mind is governed by biochemical principles. It was a really inspirational, fascinating talk. Anyway, posting post-call, so without further ago: here's what I learned today

1. Neonates generally don't benefit from ventilator rates less than 10 (this only kind of counts -- I totally knew this, but didn't make use of my knowledge at 5:30 AM.)
2. People with PKU who are treated early average a normal IQ but often have subtle cognitive differences, especially decreased executive functioning.
3. Glycogen storage disease type I patients cannot ever mobilize glucose in response to glucagon, but type III patients can if they have been fasting for less than 2 hours.

Bonus: Apparently the phrase "Selling coals to Newcastle" is similar to "Preaching to the choir," because Newcastle exports a lot of coal. However, it's historically inaccurate because lots of people have profited by selling coal to Newcastle. Honestly, to me, it sounds like an Iron Dragon reference. (Selling dragons to Nordkassel?)

Three things I learned today

So I've been doing something new. Actually, it's not quite new - I did it at the very beginning of last year, too. But I've been trying to formally think about three things that I learned in any given day. Often, they're about medicine. Not just because the vast majority of my waking hours are spent physically in the hospital, but also because one of the huge advantages of where I live and where I work is that I have a half-hour walk each way, which is a fantastic time to reflect (and also where I get most of my reading done.)

However, I consolidate new information well by writing. I often write in my Little Black Notebook and over the years have amassed huge amounts of information in my Little Notebooks; however, my handwriting is little even proportional to the Little Notebooks and there's no search function on the Little notebooks, so I thought I would start trying to blog. It has the added bonus of being a form of microblogging that's based on something I already do, which tends to help me overcome my barrier to writing.

For those of you readers not interested in medical science, I'm going to tag these posts 3til to make avoidance easy (no promises that there won't be non-science contained in future posts.)

So without further ado, here are three things that I learned today:
1. Jaundice in newborns can be caused by UTIs. This is especially true of conjugated hyperbilirubinemia and jaundice that starts after 8 days of age.
2. Cori's disease (Type IIIa glycogen storage disease) can cause hypertrophic cardiomyopathy. In retrospect, I could have derived that information from what I already knew about glycogen storage diseases and cardiomyopathy, but I didn't, so there.
3. Many little known things about NEC:
a. usually in the TI or colon
b. not associated with the rate of feed advance OR with the timing of starting feeds
c. not associated with trophics (this is cheating as I totally knew this already and tried to show off on rounds by saying so, but I was "corrected," so I'm including the recorrection.)
d. IS associated with acid blockade

Hope

We went to talk to women who are living in the homeless shelter or transitional housing today. It was pretty interesting -- a lot of really articulate, dignified women. I had a lot of respect for some of them, especially two of the older women, one of whom had double digits of sobriety under her belt. I've learned from taking care of grandparents who have drug addictions just how hard getting sober and staying that way for so long can be.

One of the things that came up at the very end is the distrust that people develop in doctors because they're told that a loved one will die or has a very grim prognosis and then does well instead. I kind of automatically stepped into my script for patients with terminal prognoses. It's a script I built under the tutelage of an excellent palliative care doctor (seriously, the institution that housed my medical school is famous for many things, but it is not as famous as it deserves to be for the quality of its medical ethics and palliative medicine departments, both of which I was fortunate to spend some time with as a medical student.)

The script, supported by recent evidence in the pall med literature starts by emphasizing that it's important to have many different types of hope. I explain that based on the evidence in front of us, we think that (specific outcome) is the most likely and it's important to know that so that we can make plans based on the possibility of that outcome. It then acknowledges that parents hope that I'm making an error or hope for a miracle and that those hopes are reasonable and that I want parents to have those hopes. In a slightly antagonistic environment, like the one that developed today, I try to diffuse the tension by saying "my hope for your child is that 10 years from now you'll be telling everyone what a stupid doctor I was and how your child (survived, had a good cognitive outcome, etc.) despite what I said. I sincerely want nothing more for you."

And then I try to transition to saying "but, if (negative outcome) happens, I want you to have hopes for that, too, so that's why it's important to focus on (negative outcome) for a while." This conversation takes different turns depending on the negative outcome, but I try to guide people to realizing that they can both hope for a miracle AND hope that if their child passes away that they have a pain-free death or that if their child has cerebral palsy that they will continue to be able to care for the child at home.

It's counter-intuitive to give people permission to hope for miracles. It was initially really uncomfortable, because often my medical knowledge tells me that a miracle won't happen. I've learned to make my peace with that cognitive dissonance. I feel like parents feel like I'm on their team when I let them want a miracle.

The Medical Code

I spend a lot of my life thinking about language and the way that we use it. In my personal life, I'm a stickler for the precision of language; within my social group I have participated in originating several turns of phrase that cover concepts that are otherwise difficult to describe (in my social group the phrase for these phrases is "consensual language" -- i.e. language that means what it does merely because everyone in the social group consents to the definition.) On my walk to work on Saturday, I was thinking about how groups larger than my social group similarly, but less explicitly, co-opt certain words or phrases to inevitably express a specific idea.

This is particularly true in medicine -- both among doctors and between doctors and patients. Junior doctors present patients to an attending and are expected to use these phrases to paint their conclusions before stating what their opinion is. Similarly, despite the fact that taking a good history is a dying art, specific words that the patient uses can point to a differential. Perhaps the most famous example in all of medicine is the "Levine Sign" -- when a patient, while describing their chest pain, clenches their right fist closed over their mid to left heart (it is considered near-pathognomonic of angina.) In the past week, there were a couple of examples in my life that got me started thinking.

The first was also my very first role-reversal in the (misnamed) Attending Effect -- where a junior doctor, despite taking a good history, fails to be told a key piece by the family, which is then elicited by a more senior doctor (but not necessarily the Attending.) I'd sent my junior medical student to get a history from the family, while I took care of another patient. By the time I'd arrived, my medical student had spent at least 30 minutes very extensively getting the history and had done a very thorough job. Within 5 minutes of my arrival, I asked my first question: "When did your son get his Nissen fundoplication?" The father answered that it had occurred one month prior.

Afterwards, my medical student said to me, clearly frustrated: "I had just asked a past surgical history. The father swore his son had never had surgery. How did you know he had a Nissen?" And the answer was a single word: I'd walked in while the father was describing his cognitively normal 7 year old son "retching." There are only two things that I can think of that cause cognitively normal kids to retch without ever vomiting. The first is having a Nissen. The second is having a non-organic program (such as food aversion, attention seeking for some reason.) Given the rest of the history I'd heard in two minutes, the word "retch" was code for "Nissen" -- the father had essentially told me unasked that a Nissen had been placed, because I knew what to listen for.

The second story that led me to think about this was an event with an attending. I had admitted a little girl whom we suspected had epilepsy, who had been started on an anti-seizure medication, but was having adverse side effects from the med. In the course of picking a new medication, my attending became unconvinced that she even had epilepsy in the first place. Her EEG was negative. He asked me to repeat her semiology (clinical characteristics of a seizure). I started with "she has many types of events..." And he appropriately interrupted me, saying "so, she doesn't have epilepsy." I had used the code incorrectly (the code for seizures involves stereotyped movements, which should fall into one of few similar categories every time.) This time, rather than repeating word-for-word what I had been told, I instead made my case, using selective information: "yes, but one of the types involves being nonresponsive, with her eyes open, followed by rhythmic jerking, during which time she has bowel and bladder incontinence, and then is sleepy for half an hour afterwards." We started her on a new anti-seizure drug.

But perhaps the best story that I have on the code of medicine happened Saturday morning, when I arrived at work. We had admitted a new patient with "seizures" to the service. Having heard the story (by report, she was a teenager who had a history of having "jerks," which lasted seconds for years, but on the day prior to admission had had a "cluster" of "jerks," lasting minutes, which suggests a diagnosis of juvenile myoclonic epilepsy), I put in orders for an EEG and seizure precautions, and went to go see her.

The main differential diagnosis in a teenager who is having seizure-like activity is a new epilepsy disorder (and then there's a diagnostic dilemma within epilepsy, which is beyong the scope of this discussion) and pseudoseizures (also called non-epileptagenic epileptaform events, non-epileptic seizures, psychogenic-seizures and a host of other, confusing, names.) The way you tell the difference is usually with a good history and an EEG. An EEG is tough, because often, events don't get captured on EEG and then if the baseline of the EEG is abnormal, it's easy to call it epilepsy, but if the baseline is normal it's impossible to rule out epilepsy on interictal (between seizures)EEG. Therefore, a good history is the go-to tool in diagnosis.

Therefore, I started with a very careful history of what happened when she gets the jerks. She told me the jerks usually started in her head/neck, but sometimes spread down to her body. She described them as lasting seconds, but often occurring in clusters. All of that is a beautiful history for juvenile myoclonic epilepsy, and the beautiful thing about juvenile myoclonic epilepsy is that it's a type of epilepsy that will show up on EEG, even without a seizure, so I was getting pretty ready to call it a day for history taking. But then, as I was wrapping up the case in my head, she said "the movements begin with this compulsion to move." Carefully, I responded "'Compulsion' means something very specific to me, and I want to hear exactly what it means to you." She defined it: "I get this urge to move and it gets worse and worse and I can put it off, but then it overwhelms me and I have to move." And I realized that I'd also missed a huge piece of the history: she'd told me that right before her clusters started, she'd been playing in the band. Now, with a new diagnosis in hand, I asked "have you ever gotten a jerk while playing your musical instrument?" She hadn't. The diagnosis was clear. She had tics, not seizures. Tics are a different movement disorder, one which rarely gets confused with epilepsy, because the movements are typically not stereotyped and are always voluntary (not voluntary in the sense that the patient wants to do them, but voluntary in the medical code, meaning that the patient can delay doing them, and is giving in to an urge to move by choosing to move in the way that they feel the urge to do so.) The keyword in the whole case had been the "compulsion." I canceled the EEG and her seizure precautions.

We sent her home 90 minutes after admission (a new personal record), having done no diagnostic testing except a thorough history, which is why being fluent in the code is so important.

When (and what) to disclose

It's always hard to be part of a genetics consult. It seems more encompassing than infectious disease or cards or the other organ specialties. It's a lot easier to say to a parent: "Mrs. Smith, I think that there's something wrong with the baby's liver (or even brain)" than just "I think that there's something wrong with the baby."

I wasn't thrilled to tell the mother at all that we were getting genetics to look at her new baby, which had been perfectly healthy as far as anyone knew up until 10 hours before (also known as the time of birth.) But at the same time, it's not the sort of thing you can completely withhold, either. Luckily, there was more to this particular patient than just having unusual facial features, so at least I could give the parents a reason I was calling the geneticist, instead of "your baby looks funny" (N.B. I would never actually say that, but it is hard to explain to a parent that their baby is dysmorphic in lay language. We usually use the word "differences," but I was having a particularly hard time in this case. We'd gone through me telling the family that the baby had some facial differences and the family insisting that the baby looked like their other kids. Which, fine, but when I see a picture of your other kids, I know that's not true and I don't want to disagree about it.)

Complicating the whole situation was the fact that the overnight team thought that the baby had Down Syndrome. I still am not exactly sure what the team said to the family, but when I came on it was immediately clear that the baby did not have Down syndrome. So I also wanted to let the family know that if they'd heard the words "Down Syndrome" to take those words out of their head. Unfortunately, to me and to the genetics team that came to officially consult, it was clear that the patient looked syndromic; however, there was no particular syndrome that sprang to mind.

I would say about 50% of genetics consults (fewer for experts, more for novices) fall into this category. Something is wrong and that something is...?? That's a really hard conversation to have with any family. Often, if the patient is on the floor or in the unit and going to stay for a while, we won't mention that genetics is coming until the testing is done and we have an answer (I usually will mention something vague like "we're doing some testing to see if we can come up with one answer that ties together everything that is going on with your child.") However, when the child is a well baby, they go home after 2-3 days, so we have to discuss it before results are back. It's a terribly hard conversation: "we've sent genetic testing; there may be a genetic disease that your child has, but I won't be able to give you any more information for at least 2-3 weeks. What questions do you have?" And then, of course, in this situation "well, I disagree with the overnight team; it's not Down Syndrome, but I don't know whether it's better or worse." (I didn't say that, either.)

I did my best. I told the family that until we know more, there's no point in starting to worry. I told them to enjoy the child, learn more about them as an individual and love the child for the next couple of weeks. I told them until we have answers, we'll deal with each problem as it comes up and troubleshoot each one. But it's hard. Genetics is a field people go into because they want to be able to give families answers. We hate vagaries and unconnected symptoms. I wish that there were a way to both be honest and open, but not throw parents into this diagnostic grey zone for weeks.