Genetic/ Hereditary Diseases

By:Nina Dharmarajah

Media Influences

  • On the T.V. show "House" there was an episode about a women with obsessive compulsive disorder, chorea, kidney failure, etc. House’s diagnosis: McLeod neuroacanthocytosis syndrome. This disorder affects movement in various parts of the body. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). Also known as McLeod syndrome, McLeod neuroacanthocytosis syndrome is a genetic disorder that occurs almost exclusively in males. This proves that this episode is unrealistic, and shows that common misconceptions about genetic disorders are made easily; like who it can affect.

  • On the T.V. show "Doctors" there was an episode named “Outsmart Your Genes” where the doctors asked Existence Genetics to perform Existence’s unique genetic testing on three individuals for the show (one teenager and one newlywed couple) and the results were discussed during the episode. This episode was a good way to inform people that there are ways to be tested for genetic risk factors.
  • "Genetic Instabilities and Hereditary Neurological Diseases" by
    Robert D. Wells, Stephen T. Warren, and Marion Sarmiento
    . The book describes investigations into the underlying molecular mechanisms responsible for these syndromes. The book includes:

  1. First authoritative review of neurological diseases related to repeat expansions

  2. Description of clinical, human genetics, molecular biological, and biophysical investigations into these syndromes
  3. Contributions by most of the principal research teams in the area, edited by world-renowned leaders
  4. Lays the background for future investigations on related diseases


This book is good resource for those looking to expand their knowledge of genetic diseases


Interpersonal Communication

If you have a genetic/hereditary disease there are lots of people to talk to!
Here are a few examples:
  • You can contact the Genetic and Rare Disease Information Center. They're staffed by experienced information specialists to answer questions in English and Spanish from the general public, including patients and their families, health care professionals and biomedical researchers. It was established by the National Human Genome Research Institute and the Office of Rare Diseases Research.

  • You can also contact the doctors that were invloved with diagnosing you with a genetic/hereditary disease such as:
  • Neonatologists
  • Pediatricians
  • You can talk to them about any questions you have regarding a genetic/hereditary disease.

Immediate and Long Term Risk Factors

RISK FACTORS/SYMPTOMS WILL VARY FROM EACH DISEASE! THE FOLLOWING ARE EXAMPLES FOR: late-onset Alzheimer's disease


RISK FACTORS OF GETTING THIS HEREDITARY DISEASE:

  • Age. The risk of developing AD rises after age 65, and rises sharply after age 75. While 1% of the population has AD at age 65, almost 50% of those over 85 have it.
  • Gender. Women are more likely to develop AD than men. As of 2002, however, it is not known whether women are more susceptible to the disorder, or more likely to develop it because they live longer than men, on average.
  • Family history of AD.
  • Having Down syndrome.
  • History of head injuries
  • Substances in the environment. Higher-than-average amounts of aluminum have been found in the brains of patients with Alzheimer's.
  • Low occupational attainment and education level. Studies have found a clear correlation between employment in jobs that are not mentally challenging and an increased risk of AD. In addition, taking less rather than more challenging jobs as one grows older is associated with a higher risk of AD.
  • High systolic blood pressure.
  • High blood cholesterol levels. When both high systolic blood pressure and high cholesterol are present, the risk of developing AD increases by a factor of 3.5.
  • Mild cognitive impairment (MCI). Mild cognitive impairment is a transitional decline in cognitive functioning that precedes the onset of AD. MCI is characterized primarily by memory loss while other cognitive functions remain intact. People with MCI are at higher risk for AD than people who do not develop the condition; 12% of people with mild cognitive impairment develop Alzheimer's disease each year, compared with 1–2% per year of people without MCI. After four years, 40% of people diagnosed with mild cognitive impairment have clear symptoms of Alzheimer's disease


SYMPTOMS:

EARLY STAGE:
  • short-term memory loss
  • temporary episodes of spatial disorientation
  • groping for words while one is speaking
  • minor problems with basic math, and small errors of judgment


MIDDLE STAGE: (typically begins two to three years after onset)

  • The person begins to lose awareness of his or her cognitive deficits
  • Memory lapses are more frequent and the person begins to have more severe problems with language

  • Behavioral and psychiatric symptoms that are so stressful to caregivers often begin— the agitation, wandering, temper outbursts, depression, and disorientation

  • Patient is at high risk for falls and similar accidents

  • Patient becomes increasingly unable to understand simple instructions or to follow a conversation, and begins to lose his or her basic sense of personal identity


END STAGE:

  • Marked by the loss of the ability to walk and eventually even to sit up
  • Patients may be able to use a wheelchair for awhile but eventually become
  • They lose bladder and bowel control
  • When the disease begins to affect the patient's brain stem, the basic processes of digestion, respiration, and excretion shut down
  • Patients usually stop eating at this point and sleep most of the time
  • The hands and feet begin to feel cold, the breathing becomes shallow, and the patient is generally unresponsive to caregivers

  • Eventually the patient's breathing simply stops


Advances

The studies on genetic disorders have been rapidly advancing in recent years as to be able to understand the reasons why genetic disorders are caused.

Nina Dharmarjah

Health Fair Project-5th Hour
Mrs.Hinz
October 25, 2012