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Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
In 2017, FOP Friends partnered with Genetic Disorders UK. [8] Genetic Disorders UK is a small registered charity that aims to support and improve the lives of individuals who live with a rare genetic disorder [9] In March 2018, FOP Friends were awarded a grant, for the third Biennial UK FOP Conference & Family Gathering, from Big Lottery Fund. [10]
Close to 90% of FOP patients worldwide are misdiagnosed. [8] In such circumstances, the association directly supports research, makes information about FOP including symptoms and treatment guidelines available to both physicians and families, and supports afflicted families with mentoring, family meetings and an information network.
Medical algorithms based on best practice can assist everyone involved in delivery of standardized treatment via a wide range of clinical care providers. Many are presented as protocols and it is a key task in training to ensure people step outside the protocol when necessary.
Since surgeries and examinations of FOP patients exacerbate the condition, the ability to study Eastlack's skeleton has been significant for research. For example, in 2006, University of Pennsylvania's team of researchers and scientists led by Frederick Kaplan was able to distinguish the particular gene responsible for the disease, the ACVR1 gene
Osteitis fibrosa cystica (/ ˌ ɒ s t i ˈ aɪ t ɪ s f aɪ ˈ b r oʊ s ə ˈ s ɪ s t ɪ k ə / OSS-tee-EYE-tis fy-BROH-sə SIS-tik-ə) is a skeletal disorder resulting in a loss of bone mass, a weakening of the bones as their calcified supporting structures are replaced with fibrous tissue (peritrabecular fibrosis), and the formation of cyst-like brown tumors in and around the bone.
Carol Orzel (April 20, 1959 – February 2018) was an American woman with fibrodysplasia ossificans progressiva (FOP). She advocated for research into FOP and was an activist for disability rights. Before her death, she requested that her skeleton be displayed in the Mütter Museum. [1]
The POLST Form provides explicit guidance to healthcare professionals under predictable future circumstances based on the individual's current medical condition. [1] The POLST form is reviewed more frequently compared to an advance directive to make sure that the form complies with the individual's wishes in treatments as the disease progresses ...