Monday, May 25, 2015

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.


To read more about FOP and an amazing woman named Jeannie Peeper, check out this article by The Atlantic:

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