What is FOP?

Fibrodysplasia ossificans progressiva (FOP) is a very rare genetic disorder that causes dysfunction in the connective tissues in the body. When any injury occurs to muscles, tendons or ligaments, the gene mutation responsible for FOP causes damaged tissue to be replaced with bone growth. This has been called the gradual process of “turning to stone.” Eventually FOP does result in total paralysis of the body and is fatal. Most people with the condition do not live past thirty, though a few people have lived into their forties with the condition.

FOP remains a challenging, and as yet, incurable condition. First episodes of abnormal bone growth tend to occur before a child is ten. The only possible indicator of FOP in the newborn is slightly short big toes. This can easily be overlooked.

Often, abnormal growth of bones appears almost “overnight” and is frequently at first thought to be cancer. This incorrect diagnosis can create more problems for the person with FOP, because biopsies of bone growth “tumors” lead to more connective tissue damage, and thus more bone growth. Unfortunately, the illness is so rare, affecting only about one in two million people, that improper diagnosis is frequent. Many doctors can spend their whole lives treating patients without encountering a person with FOP.

The progress of FOP is devastating to watch for parents and friends of those with the condition. Gradually, as more muscle and tissue damage is incurred, the person becomes essentially locked within his or her own body. Once a diagnosis is reached, activity has to be closely monitored and many types of activity that could potentially cause harm have to be avoided. Even a simple bruise, an injection, or a twisted ankle can create more bone growth as the body attempts to repair itself incorrectly.

You can’t, as you might normally be able to do, surgically remove growing bone in patients with FOP. Any surgery would further accelerate the growth of bone. This in turn would lead to quicker death from the condition.

In 2006, Dr. Fred Kaplan, an orthopedic surgeon at the University of Pennsylvania, was able to identify the one gene responsible for the condition. This identification has led to hope among families with kids with FOP that the gene could ultimately be “turned off.” Kaplan, who is the leading expert on FOP, is now diligently working for a cure to the disease that though rare, is always fatal and heartbreaking.