Stone Man's Disease Research Paper

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Fibrodysplasia Ossificans Progressiva, or Stone Man’s Disease, is a disorder in which muscle tissue and connective tissue, such as tendons and ligaments, are replaced by bone outside the skeleton when the tissue is wounded. When the extra bone grows over the necessary bone, precise movements are restrained, such as bending the elbow, and rotating the neck. FOP is an inherited disease that progresses over time, hence “Progressiva,” and never gets better. For this disease, there is no cure, only treatments that can last up to four days if the corticosteroids are given within 24 hours of the last flare-up. Stone Man’s Disease is not sexist nor racist, it affects both genders and all ethnicities, but it is very rare to find a patient with FOP. …show more content…
An organization from the National Institute of Health stated in one of their articles that, “This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder” (Genetics Home Reference). Autosomal dominant means that if one of the offspring’s parents has the mutated gene for FOP, then the offspring can most likely get the disease. It only takes one copy of the mutated ACVR1 gene to inherit Stone Man’s Disease from the parents. FOP is very rare compared to more common genetic diseases like Cystic Fibrosis. According to an association, “FOP is a very rare inherited connective tissue disorder that was first identified in the 17th century. Of an estimated 3000 affected individuals worldwide, there are approximately 800 known patients. This disorder affects both genders and all ethnicities” (Kaplan and Shore). This means that .00004% of the global population has this disease, and only .00001% of the worldwide population is known to have it. So, if Asian parents were to think that only their male child would inherit this disease, they are wrong because anybody can get it; it does not judge, it does not care. If one parent has the gene, then their child will inherit this disease. Although it is a rare disease, it is easier to inherit because only one parent is needed to inherit and not …show more content…
These are the following risks for the mother: “(1) risk of FOP flare-ups during pregnancy; (2) risk of breathing difficulties during the latter part of pregnancy; (3) risk of childbirth complications not uncommon in mothers without FOP; (4) risk of the general anesthesia for Cesarean delivery; and (5) risk of phlebitis and pulmonary embolism” (Pignolo, Shore, and Kaplan). In more simple words this means that the mother might have a flare-up, she might not be able to breathe, regular childbirth complications may occur, general anesthesia might be dangerous for the patient, and the veins can get inflamed, and a blood clot can form in the lungs. The risks for the child include; “(1) risk that the child may have FOP; (2) risk of prematurity; (3) risk of severe fetal distress; (4) risk of cerebral palsy; (5) risk of complications from general anesthesia” (Pignolo, Shore, and Kaplan). These complications are pretty simple to understand, but here is where the ethical issue comes in. Should a person with FOP make plans to have children knowing that they risk passing on the genetic defect to their children? The answer is no. First of all, the mother may have a flare up during labor, making it worse for herself. Second of all, the parents will have to take care of an incapacitated child which will be difficult

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