Steampunk

The boy sits on the edge of his bed.  A metal frame surrounds his chest, plastic tubing covering him in tendrils of oscillating white.  A mask covers his face, flushing him with medicine laced steam.  The device rumbles and jerks, steam pulsing out of its joints with each movement.  He watches Law and Order quietly. 

He had come in with complications of cystic fibrosis, a disease that boiled down to a few faulty sodium transporters, most often a single faulty digit of genetic code.  Without this sodium transporter, his cells don't push water into mucus, creating a thickened, nasty product that makes the normal kind seem delightful. He cannot get rid of this mucus.  It accumulates, filling his lungs with a rising tide of congestion.   It serves as a platform for bacterial colonization, the thick substrate impeding his immune system from properly fighting back.  It clogs his intestines, it destroys his pancreas, his kidneys, whose ducts are as dependent on mucus as his nostrils.  It stunts his growth, ramping up his metabolism hugely with the physiologic effort of clearing mucus.  It will kill him, on average somewhere in his twenties or thirties.   He is 17.   His sister died of the disease at 18.  He is terrified.  

The device torturing him was a CF vest, a vibrating, oscillating, beating of a treatment, designed to free up mucus in the lungs, letting the child cough up some of the phlegm that was drowning him.  This contraption of steam and metal had him for hours each day, a shuddering, clanking mechanical replacement for a process his body could not do.   We doused his circulation with antibiotics, we gave him sprays of albuterol, steroids, and toxins designed to help fight his chronic infections.  The volume of his medication was so high we had cut a port into him, a ready made venous access normally meant for chemotherapy.   

He plays football for his high school.  He has a girlfriend. He wants to go to college, to med school, but thinks he will become a rad tech because it takes less time.  He doesn't feel like he has that much time.  I can't argue.  But he has a life, even inside the abusive steampunk hug of his vest.    

Nosebleed

I don't even touch his nose before it starts gushing.  I'd looked in his ears, an invasion that any four year old knows is worthy of the most potent vocal rage he can summon.  His tearful howl literally burst a vessel in his nostril, the sudden surge of pressure and agitation proving too much for a vessel that had assuredly been picked clean by his questing tiny fingers.  

The blood pours out in gushes that seem literally unimaginable for a child this tiny.  It sprays onto the ground in sartorial geysers, staining his pale freckled face with ghoulish warpaint. He stops bawling for a second, confused momentarily by this painless wet.  The blood slows down, the decreased pressure drawing the flow back to a trickle.  But he knows blood is bad. So he does the worst thing, he bawls more, ramping up the gusher in his sinuses once more.  Blood is pooling on the floor, a sticky mess of coagulation and snot running through corrugations in the tile.  

I sit there momentarily frozen, astonished by the sheer volume, stunned by the ultrasonic scream of a confused (but not wounded) child.  He grabs his mother, spreading gore across her shirt.  I hand her a paper towel for his nose, and think about what to do.  Tilting your head back is wrong, they say.  You just swallow blood, it doesn't actually stop the bleed.   I'd been told you use a tampon to stop nosebleeds.  I ask the nurses, but none of the available feminine hygiene products will fit up his nasal passage.   I tell her to tilt his head forwards, to put pressure on the outside of the nose.  I tell her to hold this position for ten minutes.

Those ten minutes are long for me.  He had come in for frequent nosebleeds.  Nosebleeds in kids can be nothing. But not always.   My mind stutters out fears like acute lymphoblastic leukemia, a possible death sentence for this friendly, albeit vocal, little man.   The bleed has to stop in 10 minutes.  Longer, and it begins to get worrying.  Shorter, and we can chalk it up to a youthful obsession with boogers.   A terrible fantasy sequence rolls out in my head, the guilt of possibly diagnosing this child with leukemia crushing, the idea of this mother losing her boy...but no, its just a nosebleed.  Its almost certainly just a nosebleed.  Right?

I look at the clock, begging for the right answer.    

Pseudo

The baby boy had horns. Two big round lumps growing from his brow, two cephalohematomas, bruises of the soft infantile skull that shrank with each post-natal day. His horns, a birth accident, but not one of any consequence, seemingly marked him from birth as a troublemaker. And in a way, he was trouble. Not that he behaved poorly, quite the opposite in fact. He was, to put it mildly, quite adorable. His round eyes took in the room with that innocence that rarely seems to last even weeks, and he rarely fussed. He took everything in stride, from the hospital crib he lived in to the tubes we fed him with. Even the two loops of his small bowel protruding from his side in a man-made point of access couldn't perturb this little guys day.

He'd been here for a month. He'd been on Earth for two. He was born happy and healthy, but with a distressing tendency to vomit. This isn't unheard of in babies, so his pediatricians weren't too worried. Not, at least, until each succesive test kept coming back negative. It wasn't the usual things, the pyloric stenosis, the duodenal atresia. There were no visible obstructions in his intestines, no problem we could point to, nothing to say "here. this is what we need to do." They pulled the ostomy (the loops of intestines) out to try to correct a problem, try to further diagnose. They ran test after test, all the while feeding him a mix of fats, sugars, proteins and salt through his minature veins. But every time they tried to feed him, every time they tried to get him back to normal, he threw up.

They took a sample of his intestines. Perhaps its an extremely early onset inflammatory bowel disease. Perhaps he has a strange infection. Either of these we could work with, work on. Instead, they found only an absence: he didn't have any nerves. You might think this wouldn't be a problem, but you need nerves in your intestines. They drive things forward, onward and downward, from stomach to the porcelain throne. Pseudo-obstruction, we said with a grimace, the word Pseudo belying the severity of the problem. Almost-obstruction, not-quite-obstruction, seems like it wouldnt be as bad as the real deal right?

But a blockage we can fix, a blockage we can clean out, set right. Even dead intestine can be removed and tied back together, leaving a shorter but functional system behind. He had no nerves, anywhere. His intestines would never work.

He lay there in his crib, wiggling happily in my powerless care. His parents asked question after question, hoping and praying for options, for prognosis. We tell them he will survive on TPN (IV feeding) for many years until his liver gives out. We tell them that Pittsburgh does a total small bowel transplant. We tell them that the outcomes have been improving. We mention, but do not focus on, the fact that the improvement is from 100% mortality to a 3-5 year life span post-op. And each day I check up on my newly alive and slowly dying patient, and each day he looks at me like I am something new and marvelous.

Case 1

The first thing that struck me was the room. Tiled in aquamarine, with a latticework design of grout, the procedure room struck me more as a YMCA shower than a site for finely tuned medical activity. Shelves lined the walls, crowded with individually packaged sterile equipment. A black portable surgical bed stood in the middle of the room, self important, if not proud. Next to it lay a sterile tray of surgical tools, a rack of dully shining medieval metal and sharp edges. The OR team (as it were) consisted of myself, the attending surgeon, and a single circulating nurse, as this establishment was only for minor surgery. This unassuming room was to be home to my first case on my first day of surgery.

Minor surgery or not, VA policy dictates full sterile procedure, and given the lack of personnel, it was my responsibility to scrub, gown, and glove myself, using the half remembered, half heard instructions from a 3 hour OR orientation. The patient was already in the room, lying on the surgical bed having his arm prepped methodically. A 50 year old vet with a stunning mustache and a slightly bored look on his face, he apathetically took in my relentlessly self-conscious efforts to lacerate my hands into sterility as the nurse lathered his arm in betadyne. He enjoyed my inexperienced efforts to don the uniform of a surgeon, laughing out loud as the nurse patiently helped walk me through the final steps, amused by the gyrations that kept my lanky frame sterile in the cramped space.

The attending finished his note and in moments was scrubbed and fully wrapped. In the meantime, the patient had been fully prepped and draped, and the attending stepped up to the tray, grabbed a syringe of lidocaine/epi, and announced that we were ready to start. The patient was here for a triple lipoma removal from his left arm, and in moments the attending had anesthetized, incised, and dissected the largest fat tumor. In a whirlwind of motion we were left holding a fatty sac and suturing, with my main experience being some supremely impressive retracting (if I do say so myself). I wasn’t really sure what I had learned, except that I don’t faint at the sight of blood. I looked up at the patient, who had been chattering away through the whole thing, looking on in fascination at the bloody mess we were making of his arm.

“Here” the doctor said, handing me a syringe, “you do the next two.”

He plopped the syringe down on my palm. I reflexively grasped it and stared it down, plastic clasped far too firmly in my sterile and double latex clad hand. The patient’s arm remained outstretched, visible bumps calling out for minor medical attention. My own inexperience shouted back that this was almost certainly a bad idea, my entire surgical career to this point having consisted of a single afternoon of suture clinic. As I tried to recall how to sew (no…the surgeons like to call it suture), I tentatively stabbed him, working the needle tip under the skin and injected the sodium channel blocking delight that would keep him blissfully uncaring when I sliced him.

“Minor burn here” I said, willing cheery competence into my voice with every ounce of my frame. I pushed on his arm, poked his skin to see if I had successfully applied the local anesthetic.

“Can’t feel a thing doc,” he said, as I mumbled something almost under my breath about being a medical student, and not a doctor. The attending handed me the scalpel, and for the first time in my life I was seriously about to cut someone. I put the knife to the skin, drawing downward across the protuberant lump I was about to remove. The skin split apart almost eagerly, tiny rivers of blood sliding out as it parted like the skin of a ripe orange.

“OWWWW” yelled the mustachioed man with his arm now wide open. I froze, scalpel in hand, agonized with the knowledge that I must have failed with the anesthesia. I looked up, saw the patient smile, and heard him say “Naw, just fucking with you kid.”

The attending laughed. I didn’t.

Hair of the Dog

Not all alcohol's are created equal. Defined by the telltale -OH group, alcohol ranges from deadly toxin to delightful intoxicant, all dependent on the number of carbon atoms it carries. Ethanol, the friendly molecule in vodka, cause of merriment and only a modicum of increased cancer risk and cirrhotic liver damage, is the safest of all these. But we have not always restricted ourselves to consumption of this only moderately toxic iteration. Prohibition carried with it an epidemic of blindness, a side effect of cheap bootleggers using woodchips in their fermentation process. Methanol, you see, that solitary carbon alcohol, is acutely toxic, both in the pleasant warming nervous system depressant way, and in the terrible formaldehyde producing metabolism kind of way.

We still see methanol induced blindness. We see it mostly in suicide attempts, but the acute (drinking methanol to end it all), and the long form (alcoholics who are too broke for regular booze). The toxin starts off like regular alcohol, inducing inhibitory effects throughout our brain, slowing our breathing, making everything just a bit distant and complicated. The issue arises when we try to get rid of it, our cellular machinery breaking it down into component parts. The components, with methanol, are worse than the whole, and formaldehyde courses through us, blocking our energy metabolism at every step. The damage to our cellular resources can be staggering, and deadly.

We can help though. We can decrease the metabolism of methanol, forcing it into a slower elimination with less acute toxicity. We do this with alcohol. Ethanol, to be precise, straight into your veins. You will be drunk as a skunk, and the ethanol will block the metabolism of methanol, using up all the available alcohol dehydrogenase.

How is that for hair of the dog that bit you?

Better Know Your Hermaphrodites

We all began this world as girls. The male genome differs from the female in the key fact of extra genetic material (well, extra expressed, less overall). A tiny Y chromosome, with a tinier gene known as SRY, informs the masculine fetus that the uterus and vagina they were developing are of no use, instead growing a second set of tubes (our former embryonic kidney), into a new, more standing up to urinate appropriate set of equipment. This duct, known in medical circles as the appropriately manly "wolffian duct," is activated by Testosterone, the overproduction of which is the definitive physiological trait of manhood. The external genitalia, the organ on which we of the far less fair sex place so much importance, is derived from signals using dihydroxytestosterone (DHT), otherwise known as the hormone that makes you go bald and get a swollen prostate (about 40-60 years down the road). At the same time, mullerian inhibiting factors are obliterating your once promising female genital tract, obliterating the paramesonephros.

But remove these signals, and we develop along the baseline, into someone that is almost a women. You see, we still express baseline levels of estrogen, so in the absence The signals can be broken in several different places, causing several different outcomes.

One breakage can be in the production of testosterone. A 17-alpha hydroxylase deficiency we can't manufacture the copious testosterone needed to inform our bodies what to do, and without the testosterone, there is no DHT. Depending on the damage, the XY fetus would develop as either a partial hermaphrodite (small penis, blind vaginal pouch), or as a women. This all depends on the degree of insufficiency, a sliding scale of gender.

A 5-alpha reductase deficiency will block the production of DHT, leading to an entirely male form, except for that ego and gender defining locus, the genitalia. Ambiguous at best, these infants force the doctor to say "I'm not sure" when announcing the sex. They are male, of course, but will need hormone shots, and possibly a bit of surgery, to function normally.

Androgen insensitivity implies a child whose cells blithely ignore the flood of testosterone, developing quitely into almost female. These children are sterile, presenting with complete lack of internal genitalia. The testicles do develop marginally, and have a distinct tendency to get stuck in the inguinal canal (the site of the hernia), where they also need to be removed to prevent any cancerous development. They are the simplest, because genome aside, they are essentially girls. Typically tall, slender girls, with symmetrical bodies, larger than average breasts, and no body hair. (think about that next time you look at a model)

The true hermaphrodite, the fully formed penis and vagina, is the rarest of breeds. In class, one day, discussing this phenomenon, we heard a professor utter the most odd of screeds: "Its easier to dig a hole then build a pole." These children are almost always forced into feminity, regardless of their intention, because thats the way our society directs the outcome.

Masculinity is a narrow thing. Perhaps we shouldn't take it so seriously?

Mythomania

They want your blood. The beasts of our unruly imaginations, the vampires and werewolves of our gothic past, they want that vital stuff that drives you. The myths have existed for centuries, these dark companions of humanity. Our shadow siblings have survived ages in the comfortable dark, serving as the stuff of nightmares for all of us who have ever started at an unknown shape in the night. These creatures represent our collective fear of the black, the unknown. But these creatures, oddly enough, are based on reality. In fact, they are based on biochemistry.

It all comes down to the blood. Uroporphyrinogen decarboxylase, a simple (well, not so simple) enzyme, designed to help break down you assemble your hemoglobin. Hemoglobin, of course, is the wonderful material that serves your blood so ably as a sherpa of oxygen. Oxygen, however, is the hazardous trade of biochemistry. We need it to drive the reactors that keep our cells flush with energy, but like any source of energy, it comes with risks. As a substance, it loves to attack us for our electrons, to damage the infinitely delicate material that makes up cells and DNA, our molecular identity. To tame this unruly resource we have harnessed equally dangerous materials, locking reactive intermediates into a closed ring, our own tamed beast: hemoglobin.

Each stage of hemoglobin assembly has an intermediate flush with potential destructive capability. It is this chain of manufacture, this biochemical supply line, that gives us our favorite myths. The vampire involves a form of porphyria (a breakdown in the enzymes for hemoglobin assembly) in which a byproduct forms that is extremely reactive to sunshine. This leads to someone who is constantly anemic (and thus hungry for the salty iron of blood), and prone to immediate and dramatic burns upon exposure to sunlight.

The werewolf suffers from hypertrichosis, hair growing from every surface. These poor individuals might suffer from a slightly different porphyria, that of cutanea tarda. They also burn, but the more dramatic side effect of failed synthesis is an overgrown thatch of hair. everywhere.

These deep dark myths, these reflections of the lost soul of humanity, are merely the deranged impressions the sick leave on the uninformed. This extends to our other monsters in human form, the zombie (most likely suffering from hansen's leprosy), the cyclops (holoprosencephaly), and the mermaid (sirenomelia).

Funny how understanding makes it less mysterious, but more disturbing. These creatures aren't the stuff of legend. They are the sad reality of disease.