ipl-logo

Fibrodysplasia Research Paper

1450 Words6 Pages

Fibrodysplasia Ossificans Progressiva which is sometimes referred to FOP is a very rare genetic disorder in which bones grow uncontrollably to the point of causing disability (Fibrous Dysplasia). As one of the rarest and most disabling diseases, FOP causes bone to form in and over muscles, tendons, ligaments, and other connective tissues (What is FOP). Bridges of this extra bone develops across joints which causes immobility (What is FOP). These bridges also create a second skeleton that imprisons the body in bone.
So far, there are no other known examples in the history of medicine of one normal organ system turning into another (What is FOP). This rare genetic disorder affects only one in two million people across the world (Demographics …show more content…

Jeannie Peeper was born in 1958 (The Girl Who Turned to Bone). Everything about Jeannie was normal. The only difference between Jeannie and another baby girl would be her toes. Her big toes were short and crooked (TGWTB). Doctors did not seem to concerned with this. The doctors who took care of Jeannie fitted her toes with toe braces and sent her on her way home (TGWTB). This was her first sign of Fibrodysplasia Ossificans Progressiva. Two months later, a bulbous swelling appeared on the back of her small, baby head (TGWTB) Her parents hadn’t a clue where if had come from for she had not hit her head on the side of her crib and she did not have an infected scratch (TGWTB). After a few days however, the swelling suddenly vanished (TGWTB). Another sign that Jeannie had FOP was when her mother noticed something. Her mother noticed that she couldn’t open her mouth as wide as her brothers and sisters (TGWTB). This scare caused Jeannie’s mother to take her to several different doctors. When Jeannie was four years old, she was diagnosed with Fibrodysplasia Ossificans Progressiva by the Mayo Clinic (TGWTB). Because this is one of the rarest diseases in the world, this name didn’t really mean anything to Jeannie’s mom. Having this disorder would cause Jeannie to grow a extra skeleton outside of her own skeleton. This would cause Peeper to become immobile and need life long care and in some cases an early death. The doctors at the Mayo clinic didn’t tell the Peepers this. The only thing they told them was that Jeannie wouldn’t live long (TGWTB). As it turns out, Jeannie did live long. She did live to be a teenager despite what the doctors at the Mayo clinic told the Peepers. In 1988, Jeannie Peeper founded “The International Fibrodysplasia Ossificans Progressiva Association” in Oviedo Florida despite Jeannie’s condition being far worse than other cases.(TGWTB). The only free

Show More
Related
630 Words | 3 Pages

Lewis details children with each disease, but one child’s story stands out. Corey Haas, born September 2000, was the first human recipient of a LCA2 gene therapy trial which revolutionized the field of gene therapy. For the first time in its field, the gene therapy was a complete success with no side effects; four days after receiving an injection of the corrected RPE65 gene, Haas was able to see light as more than just shadows. Haas and the doctors that administrated his therapy, Dr. Jean Bennett and Dr. Al Maguire, now speak at gene therapy conventions and give hope for the future to both scientists and those affected by genetic

Read More
917 Words | 4 Pages

Patients were often experimented on without their consent. Elsie eventually died after self inducing vomiting for six months After the finishing the visit Deborah becomes sick and has to leave

Read More
870 Words | 4 Pages

Symptoms Sanfilippo syndrome The symptoms generally appear between the ages of two and six.  Delayed development followed by deteriorating mental status, Sleep difficulties and Stiff joints that may not extend fully. 

Read More
906 Words | 4 Pages

He was known in 2012 by Times magazine as one of the top 100 new scientific discoveries. Many treatments and program were made and new studies were at hand. The treatments range from brain tumors to sickle-cell they also have PT and

Read More
394 Words | 2 Pages

In the case of filicide or false confession, the case takes place in the Netherlands in 2006, a mother of two children Kim made a call to emergency services claiming that someone broke into her home attacked her and killed her two children. Kim stated that the assailant Benny was looking for her ex-boyfriend Richard who owed the assailant money. During the call to emergency services, Kim told the dispatcher there was blood everywhere, based on her crying and inability to speak clearly Kim seemed to be suffering confusion as well as extreme distress and panic. Upon arrival at the home of Kim, officers found the lifeless bodies of her children, Roxanne age 2 and Don age 6 months who were both stabbed to death in their beds (de Ruiter & Kaser-Boyd, 2015). Kim is escorted by officers from her home to the police station where she is informed that her children are dead, her response in uncontrollable crying.

Read More
1353 Words | 6 Pages

Summary Carol Alden was referred to an infant mental health program by a public health nurse. At that time, she was suffering from postpartum depression, agoraphobia, and possible domestic abuse. Ms. Alden was 4 months pregnant with her second child; her first child, Kyle, was 16 months old.

Read More
209 Words | 1 Pages

In 1966, while Dr. Oliver Sacks was on the staff of a New York hospital, he came across some very unusual patients. About a third of all victims died, and others could not sleep and so lost their lives as well. Still others fell into a deep coma in which they spent the rest of their lives. Ultimately, their long illness cost them a great deal because they never grew beyond the time almost fifty years before when they caught the disease.

Read More
891 Words | 4 Pages

Lisa Sanders, a well known assistant clinical professor of internal medicine and education at Yale, has been writing for the New York Times since 2002. Sanders is also well known for her column, Diagnosis, in which she writes about rare diseases and cases. Over the years she has developed a unique writing style, consisting of mystery, and suspense to express that the human body is a miraculous thing. A strong use of sophisticated diction in her writings allows her to fully express the rarity and importance of the cases. Throughout her columns, Sanders uses description masterfully, resulting in readers being able to fully comprehend the thought process as if they were a doctor on the case.

Read More
577 Words | 3 Pages

Chorus 7 weeks in the hospital, 80 stitches and a nasty scar. Endless nights filled with pain, days of hard work just to gain. Crawling, standing, walking, trying to run. Where is her hope at? When will this be done? Cooped up in the hospital, 80 stitches and a foot long scar.

Read More
948 Words | 4 Pages

Discovered in 1989, Cystic Fibrosis is the most common, fatal genetic disease in the United States. Statistics show that 30,000 people in the US have been named with this disease. (Genome) Cystic Fibrosis is a disease caused when the CFTR (Cystic Fibrosis Transmembrane Regulator) is defective and the cells do not release the right amount of chloride. This causes for the body to produce thick, sticky mucus that clogs up the lungs, leads to infection, blocks the pancreas, which stops the digestive enzymes from reaching the intestine. Symptoms require; salty tasting skin, wheezing, shortness of breath, persistent coughing, poor growth or weight gain, frequent/bulky stool, and male infertility.

Read More
923 Words | 4 Pages

He is also a contributing author to a number of textbooks in the area of skin disorders and burns. When asked about an example of a common healthcare problem that he sees, Dr. Fagan said “Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis syndrome (TENS) are two of the most common types

Read More
625 Words | 3 Pages

What is Cystic Fibrosis? Cystic Fibrosis, also called CF, is a genetic disease. This disease is caused when one has inherited two copies of a faulty gene, one coming from each parent; and it affects mainly the lungs. This disease is usually detected at birth, and is currently not curable.

Read More
905 Words | 4 Pages

As there is no cure for the condition, the patient received physiotherapy, speech and language therapy, and her diabetic control was optimised prior to discharge from hospital; she made mild improvement in her symptoms. Fahr’s disease is a condition characterised by an idiopathic bilateral basal ganglia calcification. It is a rare disease with prevelance believed to be less than one in a million; most often an autosomal dominant in nature. It can

Read More
730 Words | 3 Pages

Tina Alvarado SPA222-A5 3/52017 WAC 5: Response to Sor Filotea The letter that Sor Juana wrote was a biography about her life and rationality. It was a declaration of her scholarly, innovative freedom, and rebut of censorial intrusion. Sor Juana was known as the world’s first women with the artistic and intellectual privilege to publish, write, study, and teach freely. She wrote the letter to inform Sor Filotea who was trying to silence her that she would not go still into the night.

Read More
588 Words | 3 Pages

Early in the movie is Diane is shown talking to what is assumed to be Chloe’s doctor explaining new symptoms instead of taking her to go get seen. She was very insistent about the doctors giving her the medicine without seeing Chloe. This is a symptom according to the Cleveland clinic in which they state, “The child or dependent person’s symptoms generally being reported by the mother (or other caretaker with FDIA) and not being witnessed by hospital staff” as a possible warning sign for FDIA (“Factitious Disorder Imposed on Another (FDIA)” 2021). This symptom in the movie begins the suspicion of FDIA but there is not enough information yet.

Read More

More about Fibrodysplasia Research Paper

Related Topics

Open Document