Stone Man Syndrome - Fibrodysplasia Ossificans Progressiva

In yet another Joanna-is-way-too-interested-in-weird-medical-conditions entry, I present you with an extraordinarily rare genetic disease: Fibrodysplasia Ossificans Progressiva (FOP).  For the handful of people stricken with this malady, the most casual of injuries can cause their body to transform into a prison of bone.  

A genetic mutation that affects the body's repair functions causes muscle, tendons, and other connective tissues to grow back as bone.  Something as simple as a bump on the head, a bruised knee, or merely time itself, can cause an individual with FOP to grow spurs of bone amid their flesh, or find their joints permanently locked in place.  

Of course, this is a disease which is extremely rare, only affecting 1 in every 2,000,000.  That means there are only ~4000 people on the PLANET who suffer from FOP.  Despite the fact that FOP is an autosomal dominant condition (meaning only one parent has to carry the gene for their child to get FOP), it is usually the result of a random mutation- neither parent will have the condition.  

The first warning sign that a child might be inflicted with the disease is a newborn's big toes.  They are shorter than the other toes, and curved in towards the rest of the foot in a deformation known as a valgus deviation.  

Later in life, as the child collects the usual bumps and falls of youth, the disease presents small tumor-like nodules over the back, neck, and shoulders.  They are painful, and often go unexplained for a time.  Sometimes they even retreat back into the body.  Mostly, though, they harden into bone during a process known as heterotopic ossification.  

Over time, spurs of bone grow from the child's head down, just as bones grow during fetal development.  They creep through the muscle of the back, over the shoulders and through the abdomen.  Eventually the hands and feet are frozen in place.

To make the curse even more bitter, any attempts by doctors to remove the patches of bone are met with more of the body's twisted method of healing: even more bone grows back in its place.  As such, there is no known cure for FOP, only treatment to give the people who suffer from it as much mobility and quality of life as possible.

However, the study of this disease has actually led to a variety of useful discoveries that can be applied to other bone-based diseases.  Even common problems such as fractures and aftercare for hip-replacement patients had benefited from the work done to understand this extraordinarily rare disorder.  Much of this work has been spurred on by the International FOP Association, founded by Jeannie Peeper (a sufferer of FOP herself).  To read more about Jeannie Peeper's awesome story, see the article linked below the jump.

So the next time you bash your knee into the coffee-table, amid your cursing just remember: at least your bruise won't grow back as bone.

-Joanna

Hamburger Lady by Throbbing Gristle

So, burn victims.

Here is possibly the most well-known song by British group Throbbing Gristle.  Along with Cabaret Voltaire, Throbbing Gristle is frequently credited with creating the industrial genre in the late '70s.  Composed of 4 members, and fronted by a gent named Genesis P-Orridge, Throbbing Gristle started as a performance art troupe by the name of COUM Transmissions.  In 1976, they gave their final performance as COUM, and debuted as Throbbing Gristle.  For five more years, they tore a bloody swath through the underground music scene.

Throbbing Gristle focused on creating grating and hateful soundscapes using tapes, synthesizers, and traditional instruments.  Add on the horrifically weird spoken-word lyrics that Genesis P-Orridge moaned out, and you had something that made the punk movement look safe and manageable.

Most of the lyrics for Hamburger Lady are obscured by the oscillating filter applied to the vocals.  Swirling around with the undulating droning and alien synth-squeals, the only words I tend to pick out are the sing-song "Hamburger Laaaaady" and "burned from the waist up."  Thus, I didn't immediately gather how horrible the content of this song was until looking up the lyrics.  According to the internet, many of them were taken from an actual doctor's notebook wherein he detailed caring for a woman burned so terribly that she made the attendant nurses ill.  The severity of her injuries has caused her to look like raw hamburger.  In reality, they are a little extra-nutty.

Here are the lyrics for your edification:

By far worse is the hamburger lady.

We must heal them for the qualified technicians,

Worse,

Alternating nights are automatic

She's lying there,

Hamburger Lady

Hamburger Lady

She's dying,

She is burned from the waist up,

On her arm,

Her ear is burned,

Her eyelashes are burned,

She can't hold things up,

And even with medical advances,

There's no end in sight,

For hamburger lady,

She wants me to tell you of her calm mind

From which the double play laying,

The propping chair,

Leave her,

She's burned from the waist down,

Has to eat her life through tubes.

Hamburger Lady 

Hamburger Lady

She's okay if you change the tubes,

Tubes in her legs,

The tubes in her arms,

She's okay,

Then it came out and saw the burn net,

Indeed in the account of killing,

And it flashed on the carpet,

And it flashed on the floor,

The hamburger lady,

She came to rest,

Because of the burn she needs relief, 

From the medication,

The qualified technician.

Hamburger Lady

Hamburger Lady.

Right now, you're either very creeped out by listening to the song and reading the lyrics, or you're underwhelmed.  If you're underwhelmed I imagine you're asking 'Joanna, what is the point of this?  Why did I even bother listening and reading to something so sad and gross?"

Well, let me explain.  Hamburger Lady is indeed horrific.  But, in a way, the fact that it still reads as disturbing today is a testament to how light-years far-out Throbbing Gristle was at the time.  This was before Slayer shrieked about worshiping Satan, or later metal musicians wallowed in songs about having angry sex with demon pigs (I'm not sure that this song actually exists, but I'm not gonna bet against it).  This was a time long before NIN or Marilyn Manson's The Beautiful People music video.  In terms of experimental madness, this was even before Nurse with Wound got going.

These days we find Slipknot cute enough to mash-up with Justin Bieber.  Yeah, there's still really hardcore stuff out there, but one could say that the naive days where parents were willing to sue Judas Priest for corrupting the youth are over.

Considering this cynical age we live in, I think Throbbing Gristle's Hamburger Lady, then, deserves some respect for still pushing boundaries.

-Joanna

Genu Recurvatum and the brief story of Ella Harper

Upside-down people, spider-crawls, twisted limbs.  Body-horror is one of the mainstays of the genre.

However, for the 1 individual in 100,000 born with the rare disorder genu recurvatum, walking on all fours could be a matter of everyday life.

Genu recurvatum, which loosely translates to "backward bending-knee", and also known as congenital dislocation of the knee (CDK, an acronym I'll use here on out), is a condition wherein the subject's knee joints are capable of hyper-extension.  There are other facets to the disorder, including the permanent dislocation of the patella, as well as subluxation (dislocation and rearrangement) of the tibia (shinbone) on the femur (thighbone).  There's also a slew of comorbidities which present with the condition.

In mild cases, the knee is capable of a greater range of motion, and might need extra support.  In severe cases, the knee may bend backwards entirely, creating a bird or insect-like appearance.  Individuals with severe CDK are often seen moving about on all fours as that is the easier way to get around.

So what causes this?!  Sadly, we're not sure exactly what causes CDK, but there are several factors that doctors believe contribute to the condition. It is broadly associated with breech births, and occurs in women more than men.  It is also said to occur in people where ligamentous laxity (loose ligaments) runs in the family.  There have also been a few cases of multi-generational families featuring the condition being passed down, but this is not the norm.  Usually CDK is isolated.

These days CDK is diagnosed early, and there are a variety of treatment options including serial casting, skeletal traction, and surgery.  For a disease that is rare in the first place, it is even more exceptional that a CDK case is allowed to develop without treatment to the severity which we see in individuals such as Ella Harper.

In the Victorian era, CDK was virtually unknown to medicine, with only a handful of cases being reported prior to 1880.  Diagnosis of the disorder increased after 1900, but by then Ella Harper had quit her career in showbiz, and hopefully settled down to a lovely family life.

Sadly, little is known about Ella Harper, but here are all the facts I could find (graciously curated by J. Tithonus Pernaud of The Human Marvels).

Ella Harper was born approximately around 1870, in Hendersonville, Tennessee.  By the age of 16, in 1886, Ella was the star of W. H. Harris's Nickel Plate Circus (a name so amazingly Victorian I can barely handle it).  She toured with the circus making fat stacks of $200 a week and getting featured in the papers of each town she visited.  When Ella performed, she would often be accompanied by an actual camel, because circuses aren't particularly subtle.

Her pitch card stated on the back that:

"I am called the camel girl because my knees turn backward.  I can walk best on my hands and feet as you see me in the picture.  I have traveled considerably in the show business for the past four years and now, this is 1886 and I intend to quit the show business and go to school and fit myself for another occupation."

You go, Ella Harper!  Hell yeah.

It seems like she made good on her word too, because after 1886, nothing more is heard of Ella Harper.  There is some evidence that she got married.  The name Ella Harper appears on a marriage certificate with a Robert L. Savely in Sumner County, Tennessee, in 1905.  The name appears again on a death certificate dated 1921.  However, we're not certain that this is the same Ella Harper of Camel Girl fame.  But I hope it is.  I hope she had a nice life.

In conclusion, so often horror movies use reversed joints to scare us.  I think the horror is based on how "wrong" most people consider backward-bending knees on an instinctive level.  However, I daresay this might be born out of a lack of exposure.

Useless anecdote time!  One day I was hanging out at a wedding reception, and we were talking about the wildest ideas that would change everyday life.  One guy said "What if all our knees bent backwards?!  Chairs and all our furniture would be completely different!"  I didn't know how to point out that backward bending knees weren't actually science fiction, that they actually happened already, but then I'm also clever enough to know that congenital birth defects and side-shows don't make for polite wedding reception banter.  Also, I didn't want to miss the couple with my fist-full of birdseed.  So I just let him ramble on about what pants would look like, and made a joke about Ikea, I think.

What I mean to say is that Ella Harper, like almost anyone from a "freak show", sounds like a really cool girl!  I would have loved to have had tea with her.  And as such, after all this research, I'm honestly wondering whether backwards joints will freak me out the next time I see them.

The more you know!

-Joanna

Tree-Man Syndrome

This is Dede Koswara, and, sadly, this photograph is entirely real.  It is not some set of make-up effects from a Stan Winston School dropout.  It's the result of an extremely rare genetic disorder known as Epidermodysplasia verruciformis, a.k.a. Tree-Man Syndrome.

Individuals with this disorder are extremely susceptible to Human Papillomaviruses (HPV) on the skin.  Once HPV infects the person, their bodies are incapable of fending off the virus, and it multiplies out of control.  This produces layers of scaly macules (changes in color), and papules (fluidless bumps), usually concentrated around the hands, feet, face, and genitals.  More benign cases only suffer from flat, wart-like lesions over the body.  More malignant cases, like that of Dede Koswara, produce carcinomas and polymorphic legions.

In essence, individuals with this disorder cut or scrape themselves (usually during adolescence), breaking the skin.  At that point, they are infected by HPV, and soon their skin begins to grow into hard, scaly, rootlike structures.  It overwhelms their fingers and features, making it difficult or impossible to eat and continue everyday life.

Treatments include surgeries to remove the growths, but this is a temporary coping mechanism rather than a cure.  Various drugs and supplements are currently being tested with mixed results.

Photographs of Dede Koswara first appeared on the internet in late 2007.  As one of the most severe cases of Tree-Man Syndrome to date, he was quickly picked up by a number of American tv shows on the Discovery Channel, TLC, and ABC.  They chronicled the story of how his life fell apart once his growths became overwhelming.

When he was 10 years old, Dede was playing in the forest near his home in Java and cut his knee.  Soon warts began appearing around the cut.  They spread.  It took years, but the growths eventually crept over Koswara's body.  Though they didn't hurt or itch, they smelled terrible.  He got married and had two children.  But by the time he was 28, the growths had completely covered his hands, rendering them totally useless.  He was no longer able to do his job as a construction worker.  His wife left him.  Without the ability to work, Koswara joined a travelling freakshow to support his kids.
It was during this time that pictures of him surfaced, attracting the attention of documentary-makers.
During 2008, Dede received experimental surgery to remove some of the growths from his extremities.  It was successful, and allowed him the use of his hands for the first time in 10 years (he was 34 at the time).  At the same time, doctors gave him chemotherapy to bring the HPV under control.  Unfortunately, the treatment was cut short when his liver began to fail.

In a turn of international drama, before the treatment could be completed by an American dermatologist named Gaspari, the Javanese government became involved.  They kicked Gaspari out of Java on suspicion of taking blood and tissue samples abroad for commercial purposes.

Since the treatment, Koswara's warts have begun to grow back.  He's had to return to his parents house where they clean him and feed him; dress him in his specially zippered shirts.

I'll leave you with a quote from Koswara himself:

"They say I'm not human.  Whatever they want to say, that's fine.  I guess I am a Tree-Man...  My body has again betrayed me, but what can I do?"

-Joanna