Fibrodysplasia Ossificans Progressiva

Description:
Children with Fibrodysplasia Ossificans Progressiva (FOP) Tend to be born with malformations in their toes. As you grow older sheets of bone begin to develop where tendons are. It is very painful to break a bone. People affected by the disease, surprisingly, can live to be at least fifty years old. It is like an extra skeleton grows over top of your normal skeleton. It seems like cancer at first but it isn’t. It only affects 1 in 2 million people and is very hard to live with.

Inheritance:



Symptoms:
· Malformations in the big toes
· Between the ages of 10-20 sheets of bone begin to develop over tendons
· Joints freeze into place
· Hard to eat food
· Abnormal growths as a child, looks like cancer
· Fracturing a bone causes great pain and intense bone growth



Daily Life:







Diagnosis:
FOP is very hard to diagnose, commonly misdiagnosed as cancer. Children born with big toes bent inward are usually affected with the disease. Bone starts to grow over tendons making the child unable to move fluently. Sometimes there are large inflammations on certain body parts like the back. This disease requires a specialist to diagnose and is very often misdiagnosed as cancer.


Treatment:
For FOP surgical removal of the bone is not an option. Once the bone is removed even harder bone will grow. There is currently no actual treatment to lesson bone growth. Most people affected by this disease take painkillers daily. Ever since researchers discovered the gene in April of 2006 their research for a cure is coming close. There are certain chemicals that doctors use to slow down the bone growth, and surprisingly people can now live to their 50s on average with FOP.



Research:
Research seems to be moving fast, but nothing is discovered yet to cure the disease. There is a organization dedicating all its time and money to FOP. The gene that caused FOP was discovered back in April of 2006 and that has made all the difference. This disease is basically a mutation and somewhat genetic so it is very hard to cure and have a treatment for every case, because all cases are different based on what mutation occurred.



Additional Facts:
FOP only affects 1 in 2 million in the world. Only a little more than 800 cases have been confirmed. The gene is passed down but in order for the disease to be activated a certain mutation must occur. The mutation is in chromosome 2. FOP does not affect any certain ethnic group or country. You can live into your 50s or 60s with the disease. Commonly misdiagnosed as cancer. Very hard to live with.



Punnett Square:



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Pedigree Chart:

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Pictures:
5.jpgbone_and_muscle_fussion.jpgFOPskeleton_detail.jpg


Resources:

http://ifopa.org/en/what-is-fop/overview.html
https://runkle-science.wikispaces.com/Fibrodysplasia-Ossificans-Progressiva
http://rarediseases.info.nih.gov/GARD/Condition/6445/Fibrodysplasia_ossificans_progressiva.aspx