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Fibrodysplasia Ossifican Progressiva
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Fibrodysplasia Ossifican Progressiva

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Fibrodysplasia Ossifican Progressiva Fibrodysplasia Ossifican Progressiva Presentation Transcript

  • Fibrodysplasia Ossificans Progressiva
    By: Brittany Franer
    And
    Elijah Hawkins
  • What is Fibrodysplasia Ossificians Progressiva?
    F.O.P is an extremely rare disease. It is a disorder which the muscle tissue and connective tissue are gradually replaced by bone.
    Injuries can cause joints to permentely get frozen into place.
    Surgical removal of the extra bone growths has shown to cause the body to “repair” the affected area with more bone.
  • How is it inherited?
    F.O.P is inherited by an autosomaldominant pattern, meaning: one copy of the altered gene in each cells is sufficient to cause this disorder/disease.
    The F.O.P is located in the 4q27-31 region.
    View slide
  • What are signs and symptoms of F.O.P?
    Short toe
    Bone fusion in toe
    Short thumb
    Swellings in fibrous tissue
    Pain
    Fever
    Swellings in aponeuroses
    Swellings in tendons
    Swellings in fasciae
    Progressive fusion of neck vertebrae
    Scoliosis
    Muscle ossification
    Fibrous tissue ossification
    Restricted arm mobility
    Restricted joint movement
    Restricted knee mobility
    Restricted wrist mobility
    Restricted shoulder mobility
    Restricted spine mobility
    Restricted neck mobility
    View slide
  • How is the disease tested for or diagnosed?
    You can tell just by looking at them.
  • Occurrence of the disease
    Approximately 1 of 2 million people are affected with it.
  • Is there any treatment for the disease, if so what is it?
    No, there is no treatment for these disorder/disease.
    Although some people think that surgery is a treatment, its really not, it just results in more bone formation. Which the new bones just don’t disappear on there own.
    But, some good news is that researchers are investigating F.O.P and trying to find new treatments.
  • Some interesting information
    Most cases are caused by spontaneous in gametes.
    Most people that have F.O.P. cannot have kids.
    Ashley Kurpiel was suffering from cancer and had to get her arms amputated when she was just 3-years old. The F.O.P swelling she developed would have impaired her mobility only very slowly.
  • Story Time
    My mom is a RN – unfortunately, but fortunately for us who are studying this disease, she had the opportunity to take care of a lady named Pam who had FibrodysplasiaOssificansProgressiva.
    We won’t tell you about her whole life, but we can tell you some of the things my mom told us about her that is different from those of us who are not stricken with this disease.
    She had explained to me how she had to stand up all the time when she was out of bed, and used a bamboo stick that was as long as her (it touched the floor and stopped at the top of her head). She used this bamboo stick to hold on to so that she could stand upright for long periods of time, because she could not sit down due to the fact that her knees had become ossified and she could not bend them. She walked stiff legged, kind of like a penguin to get from point A to point B all while using her bamboo stick to help support her.
    She also explained how her neck was also ossified and her chin touched her chest at all times, and when she talked to you she would look up at you with her eyes, because she was unable to lift her head.
    She had also slept on a special air bed called a Clinitron Bed, my mom said this bed was similar to what the Air Walk blow up thing at the fair looked like (the thing you had to take your shoes off to jump around in). This bed kept her from damaging her muscle tissue while she slept so that the damaged muscle tissue would not become ossified also.
    Pam loved kids, but she could not have them, because of this disease. Pam told my mom that she had many doctors call her from all over the world wanting to do experimental trials on her, because this is such a rare disease. Pam refused, my mom said she was a very intelligent lady who was very versed about her disease, and would spend a lot of time on the computer researching it while she was standing up. She also liked to play games on the computer too while standing up.
    My mom also told us that Pam also liked to drink Coca-Cola, and always had a can on her bedside table; however, someone had to open it for her, and that she had to drink it from a straw, because fingers were ossified just enough to prevent her from opening the can and holding it herself to drink. My mom described Pam as a very independent lady, that was cheerful and never complained about much even though she was stricken by this disease. “She was one in two million”.
  • Work cited, sources, or references
    http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva
    http://ghr.nlm.nih.gov/condition=fibrodysplasiaossificansprogressiva#inheritance
    http://www.wrongdiagnosis.com/f/fibrodysplasia_ossificans_progressiva/symptoms.htm
    http://images.google.com/images?hl=en&q=fibrodysplasia%20ossificans%20progressiva%20pictures&um=1&ie=UTF-8&sa=N&tab=wi
    http://www.everydayhealth.com/info/v1/Fibrodysplasia%20Ossificans?xid=g_dlp_v1&s_kwcid=TC|6122|fibrodysplasia%20ossificans||S||4433677812&gclid=CPjZwceagqACFag65QodxVWfkg
    http://www.cell.com/AJHG/abstract/S0002-9297(07)62239-3
  • THE END!!