Down's Syndrome
Causes: Down Syndrome is a genetic disorder in which, most often, a third copy of chromosome 21 is present in cells because of an abnormal cell division when the egg and sperm first meet.
Mortality Rate: The life expectancy of people with Down Syndrome increased dramatically between 1960 and 2007. In 1960, on average, persons with Down syndrome lived to be about 10 years old. In 2007, on average, persons with Down syndrome lived to be about 47 years old. Also if the baby is very light weight, it is more likely to die and African Americans infants are more likely to die than White infants. Symptoms: There are more than 50 features of Down Syndrome, but not every person with Down syndrome has all the same features or health problems. Some features and problems are common. The common symptoms include distinctive physical features, loose joints, low muscle tone, and a below-average intelligence. Treatment: Down Syndrome can not be cured, it can only be treated. Treatment Centers: Maryland: Down Syndrome Clinic The Kennedy Krieger Institute 707 North Broadway Baltimore, MD Phone: 410-502-8839 Delaware: Down Syndrome Clinic Nemours/Alfred duPont Hospital for Children Genetic Dept. 1600 Rockland Road Wilmington, DE Phone: 302-651-5916 |
Hemophilia
Causes: Hemophilia is caused by a genetic mutation when blood doesn't clot properly within the body.
Mortality Rate: Hemophilia death median age was 22 years Symptoms: Hemophilia symptoms include many large bruises, joint swelling and pain, unexplained bleeding, and blood in stool or urine Treatment: The main treatment for Hemophilia is replacement therapy to prevent bleeding Hemophilia Treatment Center 400 Parnassus Ave., 4th Floor San Francisco, CA 94143 Phone: (415) 353-2421 Fax: (415) 353-2467 Hours: Monday to Friday 8 a.m. – 5 p.m. |
Huntington's Disease(Hd)
Causes: Huntington's disease is caused by an abnormal HD gene that gets passed down from parent to child.
Morality Rate: The death rate for Huntington's Disease changes from 10 years to 30 years after the onset of the disease. Symptoms: The symptoms of Huntington's Disease include: uncontrolled twitching movements called chorea, difficulty walking, trouble swallowing and speaking, confusion, and memory loss. Treatment: There is no cure for Huntington's Disease, and no treatments to slow it down. However there are treatment to control the symptoms, mostly medication. |
Sickle Cell Anemia(SCD)
Causes: Sickle Cell Anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (sickled) red blood cells. The sickled red blood cells are fragile and prone to rupture.
Morality Rate: Sickle Cell Anemia death median age at death was 42 years for males and 48 years for females. Symptoms: If a person has sickle cell disease (SCD), it is present at birth. But most infants do not have any problems from the disease until they are about 5 or 6 months of age. Every state in the United States, the District of Columbia, and the U.S. territories requires that all newborn babies receive screening for SCD. When a child has SCD, parents are notified before the child has symptoms. The main symptoms:
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