Newsflash: “miracle cure” eliminates depression, bipolar disorder, and suicidality nearly overnight; formerly institutionalized child is now a happy, healthy 11-year old baseball-playing boy; teenager with three suicide attempts recovers completely and is now a successful art school student

Sounds pretty appealing, right? Something that you would expect the medical community to be behind 100% and doctors would be lining up to try? An intervention insurance companies would trip over themselves to pay for? Unfortunately, no. Only a handful of doctors administer this treatment in the United States, and some patients have to go to Thailand to find it. A negligible fraction of insurance companies provide any coverage for any part of it. It’s controversial among medical professionals, and many of them tend to avoid at all costs patients who seek it.

This seemingly miraculous, life-restoring treatment is… gender reassignment.

We had an amazing set of speakers today in our Human Sexuality in Medicine elective: Dr. Norman Spack, a pediatric endocrinologist who specializes in gender identity and intersex, and two of his patients, one a young adult and the other an elementary schooler. The endocrinologist didn’t use exactly these words, but he basically made it clear that he felt he had been called to this career path (after many years in other areas of pediatrics) out of a desire to help patients that had few people to turn to. He was an inspiring person not only because of what he does but also because of how he obviously had worked so hard to understand where his patients were coming from and what they most needed in terms of medical care and emotional support.

The patients themselves were even more amazing. I have heard from one other person who I knew to be transsexual, but he emphasized his experiences with the medical system as an adult more than the process of transitioning, so this was the first time I really got to hear about what it’s like to grow up in the wrong body. The endocrinologist mentioned that transsexual children and adolescents are frequently diagnosed with bipolar disorder, when really “it’s more like post-traumatic stress disorder” from the unbelievable trauma of feeling that your brain doesn’t match your body, and of course all the stigma and other emotional issues other people cause these children.

The 19-year-old woman, an art student, was born as a boy. She had suffered extreme anger and depression, and had attempted suicide multiple times; 50% of transgender adolescents do. She talked about going through puberty and feeling intensely hostile to the changes in her body. All the messages about transgender she initially got were on Jerry Springer or porn sites she found when she tried to search the internet. Fortunately, she eventually came into the possession of some legitimate information, and she lit up when she talked about the immediate identification with all the feelings the materials talked about – “this is me.” From that moment on, her emotional life completely turned around. She came out as transgender to her parents at age 14; not an easy process, but one that ultimately resulted in them being extremely supportive. While they went to bat for her, she has also been an incredible advocate for herself, including educating people like therapists who were supposed to be helping her, and doing extensive research on “every surgeon in the world” who does gender reassignment surgery, ultimately traveling to Thailand for it. Now that she is transitioned and in college, she says, being transgender isn’t even a big part of her life. She broached the topic with her boyfriend, but most other people don’t know, and she no longer goes to support groups or conferences. Her identity can now be defined by other things: a woman, a college student, an artist, and all the other things she does and is.

The younger patient was a sweet, goofy, buzz-cutted boy in a Red Sox shirt who was volleying teasing back and forth with his dad and confidently interjecting his views into the conversation. Hard to believe that earlier in his young life he was aggressive, depressed, possibly suicidal, diagnosed bipolar, given lithium, and institutionalized… but that’s when he was living as a she. According to the dad, practically from the moment their daughter started to walk and talk, it was obvious that she did not identify as a girl. When asked after watching the Disney movie Pocahantas if she wanted to dress up as Pocahantas, she replied adamantly “No! John Smith!” and marched around the house with swords tucked into a belt. She refused to wear girls’ clothes, and made it clear in many other ways that she didn’t want to be a girl. So, these incredible parents agreed to let their child transition… and it was clear from the way the father glowed when he talked about “my son” that he felt he had gotten his lost child back. The mother attends a yearly transgender conference, where the son can hang out with two friends who are the same age and also female-to-male transgendered. The boy seemed to take it all in stride, reflecting a patience and maturity well beyond his years. He left school for spring break as a girl and returned two weeks later as a boy. The school had been incredibly supportive, fielding calls from parents and making accommodations. I could only think how lucky this boy was to have been taken care of so well and so early; compared to people who have to spend most or all of their lives hiding their true selves, he can spend nearly his entire life as the person he truly is and wants to be. And he truly embodied the idea of looking “happy in his own skin”.

I won’t go into details here, but suffice to say that the endocrinologist talked about a new treatment pioneered in the Netherlands that, for kids identified before puberty, can not only delay puberty’s irreversible changes into the genetic gender that the child wants to reject, but can also basically buy some time for the child to mature emotionally/psychologically before making the decision to mature physically. It was one of those simple interventions, perfectly in harmony with the workings of the endocrine system, that can only be called “elegant.”

One other thing of note was the language used throughout the talk, particularly calling the gender to which patients transitioned the “gender of affirmation.” I hadn’t heard this usage before, and the more I think about it the more I love it… It is so positive, but without any notion of normativity (not “the right gender”). More importantly though, it implies a very different concept than the phrase “gender of choice”, to which one might be more inclined to gravitate. Because as these patients’ miraculous turn-arounds after transitioning indicate, their birth genders were not even an option; just as gay people do not choose to be gay, transgender people do not choose another gender, but rather find ways to affirm the gender that they feel they have been all along. They did not somewhere along the way choose to change. Their birth gender is, basically, a pathology… one that can lead to intense crises that, while yes they have psychiatric as in “in their head” implications, also pose very real physical risks and certainly prevent the total health and wellbeing of transgender patients. Studies have shown significant gender-related brain differences in transgender people, for those who look for physical findings to establish something as a medical problem. And yet gender reassignment surgeries are considered elective and cosmetic… As I tried to communicate with my admittedly leading beginning to this article, there is so much potential here for making positive changes in the health of these patients and yet gender identity disorders and “disorders of sexual differentiation” are regarded by the American medical institution as psychiatric maladjustment-like issues and therefore not eligible for insurance coverage.

I look forward to the day when any person could have access to the quite literally transformative services of gender reassignment should it be appropriate for them, as well as to a time when anybody who doesn’t fit stereotypical social molds has greater rights to self-determination. I just kept feeling tonight that this is a new frontier of acceptance and ability to change a life for the better, for both the medical community and American society as a whole.

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Disclaimers: I know this post is opinionated and incredibly controversial, and I am not looking to pick a fight or criticize anyone who disagrees for being closed-minded.  When I talked to my mother about this, she wisely encouraged me to look back and think about how I came to this acceptance.  The truth is I don’t know, and I really wish I did, because then I could help others along that path towards tolerance and understanding.  I think I have been blessed to live and work in environments where tolerance of many kinds of differences was the norm, or at least where expressions of intolerance were not acceptable.  This enabled me, when I did finally come into contact with people that I knew to be transgender (or gay, for that matter), to listen to their stories with an open mind and heart, and after being open to someone in that way it’s hard to go back to being closed off.  If you are interested in learning more, the Intersex Society of North America seems like a good place to start, and the book True Selves is now on my reading list.

In a fitting follow-up to my post about the NICU, I just read an amazing article in the New York Times about perinatal hospice care. The article itself is beautiful and poignant, but the accompanying video was unbelievably inspiring and devastating. The tears have only just stopped. I am in awe of these families and how full of love they have managed to be for babies, even unborn, that they know will die. And they are so affirming of life; not in their decisions to carry the pregnancies to term, but in how they have worked to make their babies’ lives rich and meaningful. I can’t say I know what to believe about what happens after death, but I think that if there is such a thing as life after death, it is the living on of the little bits of ourselves that we have given to others as we have lived, and the mingling and passing on of those pieces to others through time and generations. If that’s anything like the truth, then these brave families have already given their babies eternal life, by allowing themselves and others to be touched. One of the fathers talks at the end of the article about experiencing grace; that sense of being touched, being blessed, and gaining a glimpse of insight into something beyond human words and comprehension is what I am feeling right now.

It was MEN1. I presented the syndrome to the tutorial group today and went through step by step how it tied all the pieces together: the pedigree that suggested a genetic disorder, the multiple glands affected that suggested hereditary cancer, the way the different hormonal axes interacted, and even threw in my suspicion that a prolactinoma and infertility might be in her future… And it was spot on. On the next page of the case, Mia was having trouble conceiving and had stopped having regular periods. An MRI found a pituitary tumor (the prolactinoma). We talked for a bit before getting the final page about what to do and I suggested the dopamine agonist bromocriptine, and we talked as a group about how that would work and why she would have to discontinue it as soon as she got pregnant because of its effects on another hormonal axis necessary for fetal brain development. We got the last page, and that was spot on too. “Our patient” took bromocriptine and became fertile, conceived, stopped the bromocriptine, delivered a healthy baby girl, and they all lived happily ever after. It was a great feeling: to be right, to have a happy ending for this paper patient that as I mentioned before I had come to feel emotionally connected with, to recognize how powerful our knowledge of what was going on with her medically made us… And it’s all summed up as “This is it. This is why I am in medicine.”

We have talked a lot in classes like Patient-Doctor and The Healer’s Art about hearing and eliciting patients’ stories, with the idea that understanding these stories enables us to understand the patients better. Stories keep the patient from being just a diagnosis, or help medical providers to understand how illness affects that particular patient within their particular context of family, community, and culture. Arthur Kleinman pioneered this idea in his Illness Narratives, in which he situates each patient’s illness as continuous with the narrative of their life, another chapter in which the same plotlines and dramatis personae play out (though perhaps in new ways).

The kind of doctor I want to be is the kind who listens to patients’ stories, but this will by no means be an easily kept goal. While the patients and the stories are seemingly inextricably bound together, a patient can get in the way of or even seem to contradict his or her story as it is told to and considered by the medical professional. A difficult patient, in any of the meanings of that word–angry or hopeless, manipulative or withdrawn, too chatty or too withholding, and any of the million other ways to create a disconnect between the patient and the medical system–can obscure the communication of his or her story.

Two things this week provided me an unusual illustration of the power and the slipperiness of patients’ stories. First, we had videotaped interviews with “standardized patients” (trained patient-actors) for Patient-Doctor. The people were real, but they were not real patients (at least in relation to us, the first year medical students), nor were their stories “real” in the sense of being stories about any particular person. Mine was a fretful 53 year old single mother on welfare whose multiple injuries turned out to be due to her borderline alcoholism. Though I was play-acting being a doctor and she was play-acting being a patient, I found myself readily drawn into her story of worrying about her welfare checks being taken away, of trying to find the energy to keep up with her two teenage girls, of tripping on the stairs after going to get another six-pack, and of how to put together the pieces of a life that had never perfectly fit together. My PD group read an interesting opinion piece about the utility in the patient-doctor relationship of seeming compassionate even if you are having trouble feeling it, and saying the right key phrases to communicate empathy; what’s surprising is how quickly the line blurs between saying things like “That must have been so hard for you” or “It sounds like you have a lot you are worrying about” and truly developing empathic feelings as you say them. I said all my lines, in our play-acting, but I felt them too… I re-watched the video today, and it was strange to see the few seconds of video of just her sitting alone after I had left the simulated exam room. Some part of me expected her to “change back” into whoever she really is, but she didn’t seem any different before and after I left; even though I knew that this “patient” and this story didn’t match up, I couldn’t extricate her from it.

An even greater distancing between patient and story happened while I was preparing for tutorial. Every week we get a case related to what we are learning in class. Some are real, or based on real cases, and some are not. Each tutorial meeting we discuss what we have learned and then get the next pages that tell us what happened next (whether it is lab values, the surgical outcome, or what happened at the patient’s next visit). We are covering endocrinology in Physiology right now, and I love it–I love the tremendous explanatory power of hormones and their effects on every system of the body, and I love the problem-solving nature of understanding normal endocrine physiology and its perturbations. Anyway, the patient in this case is a young woman with hyperparathyroidism, an enlargement or over-activity of the parathyroid glands in the neck (i.e. around the thyroid) that regulate calcium levels in the body. We talked about the effects of high parathyroid hormone and high calcium on various body systems, and how these problems could explain her diverse symptoms ranging from kidney stones, fatigue, and poor concentration to weight loss. Like any medical student worth her salt, I jumped on the least common but most interesting explanation for the hyperparathyroidism (the “zebra”, from the famous saying “when you hear hoofbeats outside your window, think horses, not zebras”… unless you’re at MassGeneral) and predicted that she had type 1 multiple endocrine neoplasia (MEN1), a hereditary syndrome caused by a mutation in a tumor-suppressor gene that predisposes affected people to parathyroid hyperplasia (basically cell proliferation, like benign cancer) as well as to multiple other tumors of the pituitary, gut, and pancreas. The more I put the pieces together, the more excited (and vindicated) I felt: when I drew out her family tree, her father’s “stomach ulcers” and her sister’s pituitary tumor plus the family history of kidney stones produced a perfect pedigree for an autosomal dominant condition like MEN1. A tumor in her gut could be a gastrinoma, a tumor that inappropriately secretes the hormone gastrin and increases stomach acid production, leading to her and her father’s peptic ulcer disease (Zollinger-Ellison syndrome). I was high on problem-solving, picturing myself as the next Gregory House… and then I read more about the pituitary tumors. Our (wonderful) tutorial leader had been dropping hints to us all week about considering how other aspects of the patient’s endocrine function might be affected, especially in a 25-year-old woman “who might, say, be considering having children.” I realized that just like the gastrinomas that inappropriately secrete gastrin, pituitary tumors in MEN1 can often be prolactinomas: tumors that inappropriately secrete large amounts of prolactin. Prolactin is the same hormone that is released during breastfeeding to stimulate milk production and also acts as natural birth control; it feeds back onto other hormonal axes to suppress ovulation. If the patient in the case had a prolactinoma, she might very well be infertile, at least without treatment.

As I read that, my heart sank in my chest. I felt genuine sadness; again, even though I knew that this was not a real patient (and there wasn’t even a patient stand-in, the case was just words on paper), I felt the power of the story and how it could be profoundly impacted by this diagnosis. I also realized how caught up I had been in the diagnosis, in the puzzle, in the chase after information and interconnections, and I knew that my crestfallen feelings when I read about the prolactinomas were still mixed with the joy of feeling I had successfully “figured out the problem.” And that was for a patient whose story I knew, who I could empathize with, whose potential problem of infertility moved me, and in fact who was (in the case) just about my age…and named Mia. Imagine if this patient were a difficult one, or one with major psychosocial problems, or one whose language I didn’t speak, or one who was the last one before I finally got to go home after a thirty-hour shift. Or imagine if the diagnosis were not a zebra but a regular old horse (as this case may well turn out to be in the end, though my bets are still on MEN1), something I had seen a hundred times and would see a thousand times more. Would I be one of those doctors who treats patients like puzzles to be solved, diagnoses to be made, and codes to be billed rather than like human beings? Of course I hope the answer is no. But this week’s two unusual experiences–unusual in that the patient and the story were not, in fact, one and the same–helped remind me of the complexity of issues bundled up and presented to doctors as the patient for us to disentangle, elucidate, treat, and respect.

I shadowed a neonatologist, one of my Clinical Epidemiology tutorial leaders, in the Neonatal Intensive Care Unit for a few hours tonight. There were no new admissions but she showed me a few of the babies and I had a good chance to just observe and get a feel for the place.

The NICU was a strange blend of abstract dehumanization and a very essential humanity. The tiny babies, many of them born as much as fourteen weeks premature (as young as 24 weeks!), were dwarved and even sometimes hidden by the plastic incubators, the raised beds, the heavily laden IV stands, the computers, the ventilators, and all the other equipment of any extremely well resourced ICU. All this mechanical equipment did what their mother would have been doing if they were still in the womb: kept them warm, breathed for them, fed them, protected them from injury, and of course a host of other things. Some of them needing phototherapy for jaundice were under bright lights like tiny tanning bed patrons, complete with tiny foam eyemasks. And yet the plastic bubbles were interspersed with enormous comfortable chairs, in which parents were ever-so-gently bouncing their infants on their knee, or just holding their babies skin-to-skin, sharing warmth. And we spoke to the mother of a baby unexpectedly born with trisomy 21 – Down syndrome – who was just so unbelievably stoic and loving. With perfect composure, she pointed out all the classic features of the disease on her baby’s body: the low, curly ears; the flattened nose bridge; the single palmar crease; the slanted eyes; the lack of muscle tone in the core muscles that made him flop back when lifted and made every breath an obvious effort; the almost normal heart sounds that belied the heart’s severe anatomical defects. The next minute, she was making faces in response to his making faces, and talking softly to her “sweet, floppy boy.” She had taped to the crib photos of her other son, this baby’s two-and-a-half year old big brother, who was healthy and normal. The baby was dressed in several layers of coordinated patterned cotton in baby blue. I listened with reverence as she talked about making her plans for the next hours, then the next days, then the next month, “and after a year we just go from there”, and as she and the neonatologist looked fondly at the baby and talked about maximizing “so much potential” of “this little being.” And that was the amazing thing about the NICU, was that at the heart of all this machinery and testing and highly skilled staff, it was a roomful of little beings, just struggling or waiting peacefully for their chance to live and grow up. And of course their loving, heartbroken, nervous, resilient parents, holding on until they could take their babies home.

I am so glad to have made this visit at this particular time, because after just three weeks of Physiology, I am suddenly feeling so much more knowledgeable and empowered clinically. Though there have been so many times I’ve been overwhelmed by the amount of material and frustrated feeling that I don’t know anything, tonight I felt the difference. I understood why the jaundiced babies were receiving phototherapy; we covered the liver in GI physiology only yesterday. I was able to follow more of the respiratory physiology, and was inspired to come back and do more reading, and now I understand the amazing transformation that takes place when a baby takes its first breath. It’s more than just the symbolic passage from another world (the womb) to this one. Because the lung doesn’t have air to breath in utero and too much pressure through there would damage the developing lungs, the entire fetal blood circulation is actually rewired compared to the adult circulation to bypass the lungs almost completely. There is actually a hole in all fetuses’ hearts, and another connection that reroutes blood from the right side (the lung side) of the heart to the aorta, and these let the blood flow directly into the body rather than through the lungs first. The lungs (in both fetus and child/adult) have the unique feature of closing off blood vessels to areas that aren’t getting oxygen, called hypoxic vasoconstriction, so basically everything is closed off in the fetus and blood doesn’t flow through the lungs. But the baby has to be able to instantly switch over to adult-type circulation the moment it takes its first breath of air. When that first breath of oxygen hits the lungs, the blood vessels open up, resistance to blood flow drops, blood flows through the lungs, and the blood pressure coming back into the heart causes that hole to slam shut. (It later fuses closed, and the other connection shrivels up, though the remnants are still there in adults… more than just our navels, we are all carrying the reminders of our fetal origins inside.) In terms of cardiovascular anatomy, the baby has instantly grown up. Anyway, I think it’s important to me to have these reminders now and again of my ultimate goals and the reasons (including the small, resolutely living reasons) that I am on this path, so even though I am not sure that I would ultimately go into neonatology, I am so grateful for the opportunity tonight to see physiology come to life.