Essay On Fibrodysplasia

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

when the body loses too much bone, doesn’t make enough bone, or both. Because of

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

It all comes down to the teacher, and any other adult involved in the student’s life , starting the process to determine the disability and the next steps to support the student. In conclusion IDEA is more appropriate for a student with ADHD, rather than Section 504, because the Individualized Education Plan (IEP ) describes accommodations and modifications that are specific to the student and will support the students’ educational growth, and the student would be able to receive special education services in the general education and special education classroom.

Fibroids are becoming more and more common in women in the United States. It is estimated that 171 million women in the U.S. were affected by this condition in 2013(6). About 20% to 80% of women develop fibroids by age 50 (6). As many as three out of four women may have uterine fibroids in her lifetime (4). Fibroids, also known as uterine leiomyoma, are benign tumors that can be found in women of childbearing age due to its dependence on estrogen and progesterone (7). They are made of muscle cells and other tissues that can grow around or in the uterus or womb. With fibroids, a single cell divides repeatedly, eventually creating a firm, rubbery mass distinct from nearby tissue (2). Some fibroids even go through growth spurts where they grow and shrink on their by itself. There are women with fibroids who have no symptoms at all. If they do, it may consist of heavy or painful periods, frequent

In this study, I will focus on a Year 2 child who I teach. He has a genetic condition called Neurofibromatosis type 1 (NF1). Certain health implications are often associated with NF1 such as learning difficulties, and the severity of the condition can vary considerably from person to person. The child has a school focused plan (SFP)

Fibromyalgia is ".... the most common musculoskeletal condition after osteoarthritis. Still, it is often misdiagnosed and misunderstood. Its characteristics include widespread muscle and joint pain and fatigue, as well as other symptoms." "(WebMD.com)" Fibromyalgia is a horrific condition which "affects relationships, parenting duties, and life decisions of people afflicted with the chronic pain disorder. Fibromyalgia is characterized by widespread muscle tenderness and pain, fatigue, and sleep problems. The cause is unclear, but abnormalities in the way the body responds to and processes pain may play a role." "(WebMD.com)". Also "Fibromyalgia (fi-bro-my-AL-ja) syndrome (FMS) produces chronic body-wide pain, which migrates and can be felt from head to toe. Other symptoms include persistent fatigue, headaches, cognitive or memory impairment, morning stiffness and non-restorative sleep. The pain can migrate from day to day. Recent scientific research studies have shown central nervous system involvement in FMS." "(NFRA - What is fibromyalgia?)". Now you may be thinking "Why should I donate to a charity when it seems like such a horrible thing would be very rare?" While lemme tell ya something according to a study "Scientists estimate that fibromyalgia affects 5 million Americans 18 or older. Between 80 and 90 percent of people diagnosed with

Previous research by Kaplan in the Skeleton in the closest devoted an article on Harry Eastlack living with the disease. Harry Eastlack is the perfect example of unnecessary biopsies and surgical procedures that greatly exacerbated his condition. During Harry’s lifetime, he experienced eleven operations because doctors failed to focus on the connections between the heterotopic ossification and the malformation of the toes (Kaplan, 2013). He was born with malformed toes, yet it wasn’t until his leg was struck by a car at the age of five that caused the progression of the disease. After the car accident, the flare-ups began and formed heterotopic bone in his lower limb. As the disease advanced Harry was unable to function with normal daily activities and was moved to a nursing home. Figure 4 illustrates the progression of Harry Eastlack fibrodysplasia ossificans progressiva throughout his life. Prior to his death he made a noble decision to bequeath his body and medical records to The Mutter Museum of The College of Physicians in Philadelphia for future generations to learn and study his disease (Kaplan 2013). Till this day, scientific researchers refer to his medical records as a guide to the disease. Although, Harry was never diagnosed with fibrodysplasia ossificans progressiva during his life, his contribution has made a significate impact with the members of the fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva is a rare and incapacitating condition of skeletal malformations and progressive heterotopic ossification. It was originally called myositis ossificans progressive (MOP) and was discovered by a French physician, Guy Patin, who came across a patient who had FOP. He described the patient to have “swellings” in his back (History of FOP, 2009). They changed it from MOP to FOP because other fibrous tissues in addition to muscle are replaced by bone. FOP causes excessive bone growth and begins in the early stages of life.

In addition to the facial features, other physical effects can include malformations, deficits in motors skills and some children even present with seizures. The cognitive impact can also be very damaging to a child. They can have a learning disability, mental retardation, memory deficits, information processing disorders, a lack of executive functioning skills, can inconsistently perform in abstract and generalizing tasks (they struggle to relate and build upon previous knowledge), and they often lack cognitive flexibility. Executive functioning is important for a student in the classroom. A student needs these skills for paying attention,

Paget’s disease (also known as osteitis deformans) is a chronic disease that affects bone growth, causing bones to become deformed and to be weaker than normal. In normal function, bone is continually being broken down and replaced by new bone, to keep the skeleton strong. In Paget’s disease, the cells called osteoclasts that break down bone, are overactive. This makes the cells that produce new bone, called osteoblasts, to work faster than normal. The resulting new bone is weak and of poor quality. The cause of the disease is unknown, but there is a strong genetic influence. Paget’s disease predominately affects people over the age of 40 years, and can occur asymptomatic. Early diagnosis can be made by X-ray, bone scan, and alkaline phosphatase

Fibrodysplasia Ossificans Progressiva disease also known as ‘FOP’ is a rare genetic disease of the connective tissue. FOP can be characterized by malformations of the big toe. This malformation is a characteristic feature that helps distinguish the disease from other muscle and bone issues. It is a disease that is caused by a mutation in the bodies repair mechanism. This causes muscle and connective tissue such as ligaments and tendons, to be ossified spontaneously or when they are damaged. Sometimes the bone can be permanently frozen in place in some cases. FOP is usually seen in early childhood it starts with the neck and shoulder and proceeds down the body and into the limbs. People who suffer from FOP are basically imprisoned by their own skeleton. Majority of FOP cases are sporadic and are a result from a new gene mutation (Lerardi-Curto and Lynne). This mutation is an autosomal dominant disorder; this means it affects those who are heterozygous with a homozygous recessive partner because of this it means their children will have a fifty percent chance of having FOP. Most cases of FOP are a result from new mutations in the gene. People who have FOP and have the heterozygous phenotype have less severe affects than those who have the homozygous dominant phenotype. Patients who have FOB have the ossification gene that is still working in their bodies and it is usually turned off after a

FOP, also known as Fibrodysplasia ossificans progressiva, is a rare genetic condition. Approximately, there are about one in every two million births that get this rare disease. Sadly, a little boy named Josh was one in those 2 million births who received this rare disease. People’s lives are affected with this disease because it causes bone to form from soft tissue and usually by the victims 40s; it confines them to immobility before it takes their life. This is evident because of Dr. Snyderman’s facts, the symptoms of FOP, and how it is affecting him with just doing simple things.

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo