The Effects of Neurofibromatosis on Lifestyle - Article Example

The Effects of Neurofibromatosis on Lifestyle Neurofibromatosis is a genetic disorder marked by spots and lumps all over the body. It is not as rare as some might think, but the effects are also not always as obvious to the general public. While many patients have growths in areas that clearly cannot be covered up, there are many patients with neurofibromatosis that is very mild. Often their condition is not known unto anyone but themselves and their families, but that does not mean they are not suffering. Some cases of neurofibromatosis can be very severe and come with a wide variety of side effects. There is no one set of illnesses that plague those with the condition, besides the spots and growths that are characteristic of the disease. The problems that those with neurofibromatosis often have to face can have an impact on their ability to live a normal life. Their normal functioning can become severely limited. This paper seeks to explore rather or not how those with neurofibromatosis can live a normal, healthy lifestyle. There has been much scientific research performed in the area of neurofibromatosis. As it has been reported, “Neurofibromatosis is a congenital and familial disease with widespread manifestations, such as lesions of the skin, tumors of the central and peripheral nervous system, and abnormalities of bone” (Mezsaros et al, n.d). It is the widespread manifestations that make it difficult to predict what kind of a lifestyle a patient with neurofibromatosis will be able to have. Simply stated, “The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system” (Neurofibromatosis, n.d.). Doctors cannot foresee when and where new growths may appear. The growths, depending on their location and size, can be very debilitating, embarrassing, and uncomfortable. For example, a growth behind the eye can severely deform the face, as well as cause blindness. Moreover, there can be severe neurological complications. After all, neurofibromatosis is a condition in which the cells around the nerve endings grow at an abnormal rate. It is these overgrown cells that form the fibrous lumps of tissue on and under the skin. As it has been reported, Neurologic complications include tumors of the peripheral nerves, nerve roots, and plexus: spinal cord compression; dural ectasias; learning disabilities; attention deficit; headaches; seizures; brain tumors; deafness; hydrocephalus; and stroke. Plexiform tumors of the spinal roots may cause pain and erosion of the neural foramen of cord compression (Tonsgard, 2006). Clearly such side effects can be a severe hindrance to the ability of a patient with neurofibromatosis to engage in a normal lifestyle. They may be crippled by the disease and live a life of constant pain. As well, the disease affects their mental capacity. They are at a much greater than normal risk for some of the most deadly health attacks, such as cancer and stroke, which can shorten their lifespan. The probability that someone with neurofibromatosis will develop cancer is 3% greater than the rest of the population (Tonsgard, 2006). However, the reality of this disease is that even though it has the capacity to cause disaster in a life, such severe cases are rare in the population of those with neurofibromatosis. As it has been reported, “Mental retardation occurs in no more than 3%”. In fact, the majority of neurofibromatosis cases will not reach a level of severity that causes normal lifestyle to be hindered. It has been stated that “We estimate at lease 2/3 of those with NF1 have the disorder in a mild form. What’s more, some of the more severe complications, like plexiform neurofibroma or optic glioma, would already be present by early childhood of they were going to happen at all” (Korf et al, n.d.). For this reason it would seem that the greatest negative effect that this condition has on those who have it is that their parents are giving the grueling task of having to wait and see how severe their child’s case will be. Doctors have to take a “…watchful waiting approach in children who present the hallmark symptoms of at least sis café au lait macules that are at least 5 mm in size”(Bunk, 2006).There is currently no way for doctors to predict the severity of a case, unless the case is severe already at birth. As it has been reported, “During puberty, neurofibromas may grow larger, become more visible, or increase in number” (Korf et al, n.d). Those who have the mild form of this condition only suffer from a few large growths on their skin. These can often be easily removed through laser surgery, should they choose, although this grants them no guarantee that the growth will not reappear. They also may suffer from the occasional discomfort when a neurofibroma appears in an odd location that is irritating when it gets bumped into something or rubbed by clothing. As well, there is the occasional internal growth that might temporarily upset the body causing pain, nausea, and the like. What seems to bother patients the most about this condition is not the physical problems, but rather the effect that it has on their mental health due a feeling of unattractiveness and a lack of control over their lives. As it has been reported, “Neurofibromatosis type 1 affects the quality of life (QoL) through association with sever complications, impact on cosmetic features, and uncertainty of the effects of the disorder…but the emotional effect was the greatest” (Wolkenstein et al, 2001). Yet, overall those with the mild form of neurofibromatosis are indeed able to live a normal lifestyle. In fact, they are encouraged by doctors to endeavor to live normal lives. Their condition has no effect on their ability to function normally. It is only those whose cases of neurofibromatosis are severe that are unable to live a normal lifestyle. Neurofibromatosis is a genetic disorder that can be very debilitating. It is characterized by the growth of café au lait spots on the skin and lumps formed from heavy overgrowth of cells, known as neurofibroma. There are some patients whose cases are so severe that they are unable to live a normal lifestyle, but often have to be frequently hospitalized and cannot survive without assistance. Yet, their experiences do not represent that of the majority of those with neurofibromatosis. Instead, most cases of this condition are mild and, besides for a bit of low self-esteem, patients with this condition can lead very normal, active, and healthy lifestyles. Unfortunately, there is no way of telling the severity of the condition at birth. References Bunk, D. (2008)” Watchful Waiting Best in Neurofibromatosis Type 1” Clinical Rounds p.3 Korf, B., Schnider, G., & Platt, D (n.d.) “Facing Neurofibromatosis: A Guide for Teens” Children’s Tumor Foundation. Meszaros, W., Guzzo, F., Schorosch, H (n.d) “Neurofibromatosis” From the Department of Radiology of Cook County Hospital and Illinois Masonic Hospital, Chicago, Illinois 98(3):556-69 Neurofibromatosis Information Page: National Institute of Neurological Disorders and Stroke (NINDS). (n.d.). National Institute of Neurological Disorders and Stroke (NINDS). Retrieved April 27, 2012, from http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm Tonsgard, J. (2006) Clinical Manifestations and Management of Neurofibromatosis Type 1” Seminars in Pediatric Neurology. Doi:10.1016/j.spen.2006.01.005. Wolkenstein, P., Zeller, J., Revuz, J., Ecosse, E., Leple’ge, A. (2001) “Quality-of-Life Impairment in Neurofibromatosis Type 1” Arch Dermatol 137: 1451-56. Read More