What Is FOP? The Mannequin Disease
What Is Fibrodysplasia Ossificans Progressiva?
Fibrodysplasia ossificans progressiva, or FOP, as it is better known, is a progressive genetic disease that causes the soft tissues of the body to turn into bone. The person's muscles, bones, tendons, ligaments, as well as other soft tissue and connective tissue, are eventually taken over by bone. The bone will grow wherever an injury has taken place. Even on uninjured tissue, the bone will start to grow and form bridges between the connective tissues.
The bone will also begin to grow over all the joints in the body, thereby freezing the person into place. This may take many months or years, but one day the person will find that they won't be able to move that part of their body anymore. Some have used the term "mannequin" to refer to this disease.
FOP is caused by a genetic mutation. There are 45 people in Britain with the disease and only 700 around the world. The first sign that a child might develop the condition is the growth of two malformed big toes. This is usually visible from birth, but it may develop a few months later.
The abnormal bone growth that defines this condition typically begins at the top of the body and works its way down. People with the disease will start to stiffen up around the neck, shoulders, and top of the arms—and gradually the disease will progress downward through the body to the feet.
FOP Mutation and Possible Genetic Treatment
There is a mutation in the gene named ACVR1/ALK2, a bone morphogenetic protein (BMP) receptor, that occurs in all affected individuals. People who have FOP carry one normal copy and one damaged copy of the gene in each and every cell. In layman's terms, this means that the mutation will increase the amount of BMP in the cells to greater than normal levels. The increased BMP kicks off a sequence that tells the cells to make more bone.
Scientists now hope to use a special type of RNA molecule engineered to specifically switch off the damaged copy of the gene. This process is known as RNA Interference, RNA1.
This process restores the cellular function by getting rid of the mutant cells. In other words, the bad cells are taken away, thereby adjusting the protein's activity back to normal levels.
The clever thing about the whole process is that the stem cells are taken from the patient's own teeth. The patient's siblings also contributed their teeth to balance the normal controls. Believe it or not, this is called the FOP Good Fairy Tooth Program.
Obviously scientists have a long way to go. Testing on mice will need to go ahead for some time, and other considerations have be studied. For example, scientists are looking into how to safely deliver the RNA into human cells.
Louise Wedderburn, the Human Mannequin
Louise Wedderburn is a 19-year-old woman from Fraserburgh in Aberdeenshire, Scotland. Recently profiled on British TV, Louise states that FOP is not going to beat her. Her condition is getting worse, and she fears that she will be frozen in an upright position.
Standing up straight or even sitting down is a problem because of the way her bones have formed. She is afraid that she will be confined to a wheelchair—but even that could be a problem because of the shape and position of her frozen bones.
But does she feel sorry for herself? No way! Even though she has been home schooled, she has attended a school prom, absolutely adores fashion, and has even taken her first steps into the world of fashion with a stint at London Fashion Week and work experience at Elle Magazine. This girl is not giving it up easily. She has recently started her own fashion blog.
Louise Is an Inspiration
Louise first noticed her condition at the age of three, when she fell over and hurt her elbow. It turned out to be FOP and not a broken arm. As she got older and hit her teens, the disease progressed more, and she is now frozen in both her arms. Her spine is frozen, too.
She is determined to continue in the world of fashion, but she obviously must be careful not to overdo it. If she gets even the slightest injury it can cause her body to spontaneously grow more bone.
FOP Cases In History: Harry Eastlack
There have been many stories that state people have turned to stone. But are they talking about Fibrodysplasia? Well, it certainly seems so.
The best known case is that of Harry Eastlack (1933-1973).
His condition started to affect him at the age of ten, and by the time he died in November 1973, his whole body had turned into a "statue," with the ability to move only his lips. He was 6 days away from his 40th birthday.
His whole body had ossified. Before he died, he made it known that he wanted to donate his body to medical science in the interest of trying to find a cure for the disease. His skeleton is now at the Mutter Museum in Philadelphia.
Webb, Sam. "Girl, 17, battling rare disease that transforms her muscle into a second skeleton and will turn her into a living statue." Daily Mail. July 28, 2013. Retrieved Dec. 31, 2016.
"Fibrodysplasia ossificans progressiva." Wikipedia. Retrieved Dec. 31, 2016.
Branagh, Ellen. "How 'human mannequin' disease teenager Louise Wedderburn is battling the odds to become a model." Independent. Nov. 1, 2012. Retrieved Dec. 31, 2016.
Questions & Answers
© 2012 Nell Rose