A genetic disease is a disease that is related to or affected by genes and gene development. Neurofibromatosis (commonly know as the elephant man disease) is a genetic disease of the nervous system, it causes tumors to form on the nerves anywhere, anytime in the body. Some of the effects are hearing loss, vision impairment, cancer, epilepsy, and learning disabilities. Bone deformities and severe disfigurement, may also alter persons appearance.
Half of all people with NF get it from an autosomal (not sex-linked), dominant gene from a parent with NF. The other half get it form a spontaneous mutation of the sperm or egg cell, but their parents are not affected.

There are two different forms of NF, NF-1 is the most common. NF-1 is found on Chromosome 17, and NF-2 is found on Chromosome 22. About 1 out of 3,500 people have NF-1. NF-1 symptoms are neurofibromas on or under the skin and caf-au-lait spots. Enlarged or deformed bones, and scoliosis (curved spine). NF-1 sufferers may also develop tumors in the brain or on the spinal cord. Near 50% of all NF-1 sufferers also suffer from learning disabilities. The life expectancy of NF-1 patients is reduced by at least 15 years.

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About 1 out of 40,000 have NF-2. NF-2 symptoms are multiple tumors on cranial and spinal nerves. Hearing loss in teens or early twentys is the first general symptom. NF-2 patents also suffer from multiple brain tumors. Almost all people suffering from NF-2 develop tumors on both nerves to the ears.
If the chromosome was passed from the parent it can be a result of homo or heterozygos dominant genes. Males and Females, and all races have an equal chance of having the disease. As of this point there is no cure, effective gene therapy, or treatments except removal of tumors that may grow back.

In conclusion I think its sad that this disease can ruin someones life but if you can try and make the best of your situation you can still enjoy life.


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