Fibrodysplasia Ossificans Progressiva

Introduction to Genetic Diseases

Many people like to think of human genes as the blueprints of the body, but people can better explain these disorders if we think of our DNA as the Constitution of the body instead. A very rigid and extensive set of laws governing the way the body is built, maintained, what it's made of , how it functions and how it is repaired. Almost every cell in the body is required to have an exact copy of this law and it is passed down through the generations with only the most lenient - or persistent- of changes.

When this law is corrupted, as in the case of a genetic disorder, the totalitarian nature of the problem means there's nothing the body can do but carry out the self destructive instructions.

The gene that causes FOP includes a protein called AVCR1. It's 509 amino acids long and one of those amino acids has been changed. That one change at position 206 is responsible for the mass devastation observed in FOP sufferers. FOP is almost always caused by a spontaneous mutation because most patients are too disabled to have children.

What is FOP?

FOP is a very real case of the body turning on itself. The faulty gene previously mentioned, alters a crucial process people often take for granted. Normally, when connective tissue, such as a muscle, is damaged, however slightly, stem cells are called to the site and will eventually become new muscle cells to replace the damaged ones. However in FOP, the stem cells are told to become bone cells. Muscle or ligaments literally morph into bone. Dr. Frederick Kaplan of the University of Pennsylvania who is one of the world's leading experts on FOP says it is the only disease he knows in which one perfectly normal organ such as muscles, changes into another completely normal organ such as bone.

In a downward fashion starting at the neck and shoulders the joints of the body start to freeze in various positions. The first sign of a transformation is a large painful swelling on the body called a flare-up. It is usually reddish and tender to the touch and they can appear overnight. These flare-ups are almost always mistaken for tumors although true tumors don't grow as fast.

Because FOP is so rare-only 700 case known worldwide-most doctors don't encounter it throughout their practice. The first thing that comes to mind when observing these sometimes grapefruit sized flare-ups are tumors. In fact the only benign sign of FOP is the deformed big toes observed at birth but the connection often isn't made.

90% of FOP patients are misdiagnosed resulting in dire consequences for the child. Biopsies, unnecessary chemotherapy, and quite simply the absence of the knowledge of this disease can cause harm. For example, an adorable little three year old boy was taken in for a biopsy because of a tumor like growth on his back. His whole back was cut in search of a tumor that did not exist. Consequently his entire spine has fused. This premature pain and disability comes in addition to the devastation that the disease would have brought unprovoked.

Prognosis

There is no cure for FOP yet. Despite knowledge of this disease for about 300 years, its mechanisms and causes have only just come to light. The most famous victim of FOP was Harry Eastlack (1933-1973) who died of pneumonia just shy of his 40 birthday. However by that time he was only able to move his lips because the disease had progressed so far.

He donated his body to medicine in the hopes that his bones, which had betrayed him in life, might be of use to others in fighting this horrid disorder. His skeleton which is on display at the Mutter Museum in Philadelphia has been extremely helpful in learning more about this disease.

In 2006 after years of searching, the gene which is responsible for the disease was discovered and this has allowed scientists to finally put things into perspective. As of yet, the only treatment is medication for the pain and precaution against any kind of injury. That includes immunizations, injections for dental work which could lock the jaw and even piercings in the wrong places.

Because FOP is such a little known disease the research team and funding for the research are limited. But you can help. The next time you think of donating for a cause maybe you should consider the International FOP Association (ifopa.org) because although those afflicted by this crippling disease are few they are no less important. They need a cure.

Ignorance to this condition causes more devastation than necessary. With more media coverage and a stronger sympathetic ear, the cure for these people may become attainable.

Sources
(http://www.uphs.upenn.edu/news/News_Releases/apr06/FOP.htm)

(www.ifopa.org )

(http://www.youtube.com/watch?v=FlvwlSpxkfI&feature=related)