Free Essay

Stone Man Disease

In: Science

Submitted By thomaskyzer
Words 812
Pages 4
If someone could test my DNA and tell me what disease I would suffer from in the next 25 years, would I want to know the results? In my opinion, I think I would want to know the results. This could help me prepare how to move forward with my life. It would give me freedom to live knowing what will happen instead of wondering what will happen. Having this information would help my family, like I said, be prepared.

The Disease I came across is called Fibrodysplasia ossificans progressiva. This disease is often referred to as Stone Man Syndrome and is a rare genetic disorder. Since the 1800s, there have been references in medicine describing people who apparently "turned to stone"; some of these cases may be attributable to FOP. There have approximately been 700 confirmed cases across the globe from an estimated 2500. The best known FOP case is that of Harry Eastlack (1933–1973). His condition began to develop at the age of ten, and by the time of his death from pneumonia in November 1973, six days before his 40th birthday, his body had completely froze up leaving him able to move only his lips.

Stone Man Syndrome, is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged. In many cases, injuries can cause joints to become permanently frozen in place. (Hense the name Stone Man) Surgical removal of the extra bone growths has been shown to cause the body to repair the affected area with more bone. The cause of Stone man Syndrome is caused by an autosomal dominant allele. The allele has variable expressivity. Most cases are caused by spontaneous mutation in the gametes. Most individuals with Stone Man Syndrome cannot have children. A mutation in the gene ACVR1 (also known as activin-like kinase 2 [ALK-2]) is responsible for the disease. This mutation changes codon 206 from arginine to histidine in the ACVR1 protein. FOP or Stone Man Syndrome is an autosomal dominant disorder that affects individuals who are heterozygous with a homozygous recessive partner, this means if the parents were lucky to have children, their children will have 50% chance of being affected. Two affected individuals can produce unaffected children but the chances are slim. The phenotypes of those who are homozygous dominant have more severe effects compared to those with heterozygous phenotype.

The Symptoms of Stone Man Syndrome are quite unusual. Children born with FOP have deformed big toes, possibly missing a joint or simply presenting with a notable lump at the minor joint. The first flare-up that leads to the formation of FOP bones usually occurs before the age of 10. The bone growth progresses from the top downward, just as bones grow in fetuses.

A child with FOP or Stone Man Disease will typically develop bones starting at the neck, then on the shoulders, arms, chest area and finally on the feet. Specifically, FOP involvement is typically seen first in the dorsal, axial, and cranial regions of the body. Later the disease progresses in the ventral, appendicular, caudal and distal regions of the body. However it does not necessarily occur in this order due to injury-caused flare-ups. Often, the tumor-like lumps that characterize the disease appear suddenly. This condition causes loss of mobility to affected joints, including inability to fully open the mouth limiting speech and eating. Extra bone formation around the rib cage restricts the expansion of lungs and diaphragm causing breathing complications.

There is no known cure for FOP. Attempts to surgically remove the bone result in more robust bone growth and end up causing more problems than solving. While under anesthesia, patients with FOP may face problems, which include difficulties with intubation, restrictive pulmonary disease, and changes in the electrical conduction system of the heart. Activities that increase the risk of falling should be avoided, as injuries from falling can provoke the growth of bone. A few scientists have experimented with a antiangiogenic found in sharks but have had little to no luck in trials.

In conclusion, Stone Man Disease or FOP is very deadly and can be fatal. Despite all efforts there still remains no known cure or treatment for this disorder. The man I mentioned in the beginning did leave some hope for the future cure process. Shortly before Harry Eastlack's death, he made it known that he wanted to donate his body to science, in the hope that in death, he would be able to help find a cure for this little-understood and cruel disease. Pursuant to his wishes, his preserved skeleton is now kept at the Mütter Museum in Philadelphia, and has proven to be an invaluable source of information in the further study of FOP.

Similar Documents

Premium Essay

Three Toed Lizard Summary

...When a family of three vacations on the main island of Costa Rica, a mysterious three toed lizard bites a young girl, Tina. When Dr. Guiterrez closely examines the bite, and the description of the lizard given by TIna, he thinks she was bitten by a basilisk lizard, but after Dr. Cruz talks with Tina and notices that she is very observant, He talks to Dr. Guiterrez and he is no longer confident with his identification of the animal that bit Tina. Then, Guiterrez visits a beach on Costa Rica and sees a howler monkey with a half eaten lizard hanging out of his mouth. He tranquilizes the monkey and retrieves the lizard and sends it to Columbia University to be tested, and Dr. Stone concludes to Dr. Guiterrez that there is no risk of communicable...

Words: 314 - Pages: 2

Premium Essay

Resemblance of Children to Their Fathers

...represent the progress of my humors, and that every one may see each piece as it came from the forge. I could wish I had begun sooner, and had taken more notice of the course of my mutations. A servant of mine whom I employed to transcribe for me, thought he had got a prize by several pieces from me, wherewith he was best pleased; but it is my comfort that he will be no greater a gainer than I shall be a loser by the theft. I am grown older by seven or eight years since I began; nor has it been without some new acquisition: I have, in that time, by the liberality of years, been acquainted with the stone: their commerce and long converse do not well pass away without some such inconvenience. I could have been glad that of other infirmities age has to present long-lived men withal, it had chosen some one that would have been more welcome to me, for it could not possibly have laid upon me a disease, for which, even from my infancy, I have had so great a horror; and it is, in truth, of all the accidents of old age, that of which I have ever been most afraid. I have often thought with myself, that I went on too far; and that in so long a voyage I should at last run myself into some disadvantage; I perceived and have often enough declared, that it was time to depart, and that life should be cut off in the sound and living part, according to the surgeon's rule in amputations; and that nature made him pay very...

Words: 12662 - Pages: 51

Premium Essay

Medicine In The Elizabethan Era

...this era, such as comedies and tragedies of Shakespeare as well as the successes and failures in medicine. Although much of Elizabethan medicine was trial and error, it was also an accumulation of interesting beliefs, superstitions and fascinating ways in curing illnesses. Belief in the supernatural is evident throughout the era, and included when trying to understand the human anatomy. Although people of the Elizabethan times worked with natural remedies they believed in humors. The four humors included blood, phlegm or mucus, yellow bile and black bile. They believed disease resulted from an imbalance of these humors, so physicians would prescribe medicines and foods that were thought to possess the opposite properties of the excessive humor (Wagner 199).A not so common theory emerged as to the thought that diseases were caused by influences of the stars and planets upon the astral body of man (Lyons 376). A man by the name of Theophrastus Bombastus Von Hohenheim, or Paracelsus, believed in this medieval pathophysiological idea....

Words: 683 - Pages: 3

Premium Essay

The Tell-Tale Heart: Insane

...Have you ever been so angry about someone’s appearance or something about them that made you want to kill them? Well the narrator of The Tell-Tale Heart has been before. Some people might think he is insane for doing such a thing and others may just think it’s straight up murder and that he should be sent to jail. This profile will make you see what he actually is and was thinking for killing a person. The first question most people ask is, did he commit a crime? Yes he indeed did commit a crime, he has committed murder. From the story it states that, “Yes, he was stone, stone dead.” So even if you think he is crazy still that’s fine but he did in fact commit a crime. You can still be insane but breaking the rules doesn’t just go away for...

Words: 409 - Pages: 2

Free Essay

Science Is a Boon or Curse

... - GENERAL ESSAY OPEN 8/16/2013 A.RAJESH KUMAR 11 - B1 Edward teller- theory of destruction, killed million people. Fleming- penicillin, Saved million of people Science is a boon or curse Synopsis: 1 . Introduction 2 . Science in old age 3 . Agriculture field 4 . Man vs nature 5 . Electricity 6 . Medical field 7 . Killer science 8 . Biowar 9 . Conclusion Introduction We are in the age of science and technology. Everything in the universe has its uses and abuses. The same applies to science. Science has revolutionized the human existence. It has made man's life happier and more comfortable. Man cannot live without the aid of science. Science has so much engulfed our lives that nothing can take place in our day to day work without the help of science. There is the other side of the coin also. That science gave birth to destructive weapons like dynamite, guns, rifles, rockets, atom bombs, hydrogen bombs only to destroy people. Science in old age In our olden civilization also there had some science in their daily life. The people used wind mills...

Words: 908 - Pages: 4

Premium Essay

The Night Thoreau Spent in Jail

...demonstrated the instability or madness of Montresor mental well being. The individual here shows he was committing insanity by letting his emotions rule and not thinking logically. “The Tell-Tale Heart,” the person starts the story stating he is not mad which makes the reader sure of his mental illness. Eight nights he visits the bedroom of the old man, on the eighth night the eye opens; he grows furious as he looks at it and kills the old man. At the end of the story, his madness manifests into the form of the old man’s heart sounds. Illustrating he was insane before and after his killing of the old man. Montresor’s murder is careful calculated, and was illustrated with the trowel. Poe wrote he pulled a trowel from under the folds of his cloak, and he had stone and mortar ready beside Amstutz 2 the crypt before he lured Fortunato, his victim, to the catacombs (“The Cast” 1242-1243). The audience can obviously see that this homicide was premeditated. Fortunato had a long, slow death behind the bricked up wall. He did not suspect his plight, even at the very end he laughed and thought it was a joke. While, the old man...

Words: 686 - Pages: 3

Premium Essay

Frederick Douglass: An Example Of A Hero

...Kitty Kelley once said “A hero is someone we can admire without apology.” People shouldn’t be ashamed for having an appreciation of their role models. Heroes are people who do things so extraordinary and inspirational that nobody should be embarrassed for taking an interest in them. Some people like their heroes because they fight for the greater good of others. For instance, a man named Frederick Douglass fought for the freedom of others. Furthermore, “this Douglass, this former slave, this Negro beaten to his knees, exiled, visioning a world where none is lonely, none hunted, alien…” (Hayden 70). Douglass struggled so others wouldn’t have to struggle like he did. A soldier is also an example of someone who’s a hero that fights for...

Words: 368 - Pages: 2

Free Essay

Nutrition

...Marijuana Should Be Legalized for Medicinal Use Sharon Reid English 102 October 4, 2013 Week 6 Raymond Stone I am very passionate about this topic. The reason why is because I have a friend that lost her battle with cancer I was there to see how this disease was tearing her apart and how the use of Marijuana help to ease her pain. Although her doctor did not prescribe medical marijuana as a relief for her pain and discomfort, she was able to self-medicate. It tore me up inside to see my dear friend hold on to life in such pain and discomfort. Oh but the days when she was able to help herself to a remedy(Marijuana) what a joy to see some of her old-self come out to play. One of the most famous quote of all times pertaining to Marijuana is “I tried marijuana once. I did not inhale.” (Bill Clinton). I found this to be funny and so untrue. How can you say that you smoked weed but you didn’t inhale? Yeah right that like putting a lollipop in your mouth and not licking it. I can-not understand how the remaining States have not legalized marijuana for medicinal purposes. There are so many diseases and ailments that medical marijuana has help to ease the pain and discomfort People suffering from chronic illnesses such as Parkinson’s disease, Cancer and autism related diseases have shown incredible improvement in their medical condition by taking the medical marijuana. I wonder how many people know that medical...

Words: 502 - Pages: 3

Free Essay

Ten Bizarre and Deadly Medical Remedy

...Ten Bizarre and Deadly Medical Remedy The human body is full of amazing things. It is composed of complex organs and organ systems. These are many at times susceptible to infections and accidents that lead to the development of various medical complications. Some of these complications have been studied and universal remedies established. However, in as much as humans have been able to study the complex body systems and have been able to figure out how they function, there are occasions when bizarre occurrences are exhibited by the body. These cannot be treated by any of the procedures, or if they can, the procedures may not be efficient. As a result, the doctors have had to come up with other means to combat these medical conditions. This has led to doctors around the world coming up with the craziest, deadly and most unbelievable remedies to combat those awkward and unique medical conditions. They might be crazy but surprisingly some actually work. Here are ten examples of bizarre and deadly medical remedies in medical history. 1. Maggot Debridement Therapy Maggot debridement therapy, also known as, larva therapy, larval therapy, Maggot Therapy, larvae therapy, biodebridement or biosurgery is a form of biotherapy. The therapy involves live, disinfected fly larvae being introduced onto the non-healing skin and soft tissue wounds on a human being or on an animal. The purpose of this procedure is to clean out the necrotic tissues that are within the wound and also for...

Words: 2032 - Pages: 9

Free Essay

Nacirema

...In the article, “Body Ritual among the Nacirema,” Horace Miner details several rituals of titled tribe that are rooted in a fundamental belief that the human body has a natural tendency is to ineffectiveness and disease. Some rituals that are described in the article include women baking their heads four times a year as well as a daily mouth-rite to help fight against tooth decay and to attract friends. (Harvey, 2009, p. 20) However, the one ritual of the Nacirema tribe that most resonated with me was that of the ritual of every citizen keeping shrines devoted to adverting the above-mentioned belief. Within every household, one or more shrines are prepared to ward off the human bodies tendency to weakness and disease. (Harvey, 2009, p. 19) Rich families within the Nacirema society have several shrines within their homes. According to this tribe, the richness of a house is referred to in terms of the number of ritual centers or shrines it possesses. (Harvey, 2009, p. 19) Most citizens have homes made of wattle and daub construction. However, the shrines rooms within these houses the wealthy are walled with stone. Poorer families on the other hand imitate the rich by applying an imitation plaque to their shrine walls. (Harvey, 2009, p. 20) The focal point of the shrine is a box, which is built into the wall. In these boxes are kept the many charms without which no one of the tribe believes he/ she could survive without. (Harvey, 2009, p. 20) A charm is not disposed of after it...

Words: 884 - Pages: 4

Free Essay

Poe Reference

...stages of Ego-Evil as the narrator defines himself through the narcissistic eye, the malicious glare, and the enigmatic gaze of the other.  In the story, the narrator clearly grounds himself as a powerful Master who can determine all values. As a result, he sees that he is sane, and that his disease is good. His disease has merely "sharpened [his] senses -- not destroyed -- not dulled them" (91). He remains an absolute Master who has an eye for the ultimate Truth, hence he can "calmly tell [the readers] the whole story".     This episode foregrounds the way of the eye, which is always on the side of the Subject and its narcissistic fantasy. In the Lacanian context, the eye allows the self to see itself as a unified creature and as a judge, hence the eye is essentially related to the imaginary "identity-building" process. However, as the eye sees what it wants to see, "sight" or "insight" can mean bias. As noted by Ellie Ragland, the eye gives a narcissistic perspective of "unification and fusion" that does not guarantee truth, though it certainly offers a personal "principle of law or judgment" (95). In the story, the eye's bias shows itself when the narrator immediately views the old man's disease in a negative light. The old man's cataract is seen to be the "Evil Eye" (89). If we borrow Martin Buber's concept, we may as well call it the "I-Thou difference." John Cleman believes that the narrator's mental condition is crucial in leading to this conclusion. He quotes Isaac Ray and...

Words: 1469 - Pages: 6

Free Essay

Michelangelo

...Michelangelo’s birth and childhood Michelangelo was born, Michelangelo di Lodovico Buonarroti Simon, commomly known as Michelangelo. His date of birth was recorded as March 6, 1475. Michelangelo was born in a small village of Caprese, in Tuscany Italy, near Arezzo, Republic of Florence, to Ludovico di Leonardo di Buonarroti Simoni and Francesca Neri. Michelangelo was born the second of five brothers, to his mother, who died when he was only six years old (“Britannica,” 2012). Michelangelo’s childhood was considered to be low key, grim in nature, lacking in affection, and very silent. He appeared a bit touchy and quick to respond with agitated or fierce words when he was approached by others. Michelangelo was considered to be shy and most of the time he kept to himself, leaving little to no room to trust his fellow friends. After the death of his mother, Michelangelo was sent to live with a stonecutter and his family in a town called, Settignano, where he learned the craft of a hammer and chisel. Michelangelo went to his father, and told him he wanted to be an artist, and that made his father furious at the thought and he flew into a rage (“Britannica,” 2012). Bonner (2009) noted that his father recognized his intelligence and sent him to study grammar in Florence. While studying the principles of Latin, Michelangelo befriended a student, Francesco Granacci who encouraged him to follow his own desire for an artistic vocation. At the age of thirteen, Michelangelo infuriated...

Words: 2048 - Pages: 9

Premium Essay

A Very Old Man With Enormous Wings, By Gabriel Garcia Marquez

...A Very Old Man with Enormous Wings is an interesting fictional short story. As the title suggests, the tale is about an old man with enormous wings. Gabriel Garcia Marquez uses magical realism in this story, shows the cruel nature of humans, and how humans treat people that are different. The magical factors in this story are the old man with wings and the girl who was turned into a spider for disobeying her mother and father. Angels are usually thought to be majestic creatures, but Marquez depicts the old man as disease ridden and in rags. The old man’s status as an angel is endlessly questioned. The village priest, Father Gonzaga, questions if he is an angel or just an old man who happens to have wings because he has no dignity. The girl who was turned into a spider is much easier to interpret than the old man. The people do not question her status as a spider. The villagers are more welcoming of the spider-girl because her story is believable to the people....

Words: 484 - Pages: 2

Premium Essay

No Stones Women Summary

...In today’s culture, there are many individual struggling with sexual addiction that are afraid to seek help, many of whom happens to be women. The book No stones: Women redeemed from sexual addiction by Marnie Ferree gives a different outlook of women struggling with sex addiction and women who are sexual abuse. This book discusses the shame, guilt and fear by women of losing their spouse, and children due to their sexual sin. The book also provides information on healing and offers guidance to the road to recovery. In response to reading No Stones, I will explore the different areas such as the problems related to sex addiction, how the family dynamic contributes to sexual addition, treatment method, and the church’s view on sex addiction. The Problem Most people tend to assume that sexual addiction is a problem that is only seen in men, but on the contrary evidence suggest otherwise. In fact, all addictions, whether mild or...

Words: 806 - Pages: 4

Free Essay

Heritage Assessment

...NATIVE AMERICAN HEALTH CULTURE Native American Indian medicine historically was viewed with “superstition and thought” and “inferior to sophisticated medicinal practices of the early colonists’ (Portman, pg. 454) Many early colonists were treated with Native-American treatments and survived showing that such treatments were “successful in the context” (Portman, pg. 454) of the time period. Native-American healing practices are viewed as scared and are between the person seeking treatment and the healer. “There is a belief that the person being healed does not necessarily need to know all of the details of how the medicine man is healing them. The person “accepts that the medicine will work” Native-Americans “do not question things as much” and “accept that the healer or medicine man is going to heal them. The person does not need to know the details of why the healing occurs” (Portman, pg. 455) Native American healing traditions is defined as “to restore an individual to a healthy state using traditional medicines, such as healing and purification ceremonies, teas, herbs, special foods, and special activities such as therapeutic sings, prayers, chants, dancing and sand painting” (Portman, pg. 255) Native-American healing practices are directly related to four constructs: 1. Spirituality – Creator, Mother Earth, Great Father 2. Community – Tribe, Family 3. Environment – Daily life, nature, balance 4. Self – Inner passions, thoughts and values Spirituality...

Words: 1135 - Pages: 5