A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Most disorders are rather rare and effect one person in every several thousands or millions. Three examples of genetic disorders are Down syndrome, Turner syndrome, and Breast/Ovarian cancer. Down syndrome, also called Trisomy 21, is a developmental disorder which is caused by an extra copy of chromosomes 21. It is named after John Langdon Down who is a British physician who described the syndrome in 1866 (Living With Down Syndrome). The extra genetic material causes delays in the way a child develops, both mentally and physically. The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some children with Down syndrome need a lot of medical attention, others have healthy lives. Children with the disorder tend to share certain physical features such as a flat facial profile, upward slant of the eyes, small ears, and a protruding tongue. Although some children with DS have no significant health problems, others may experience some medical issues that require extra care. One medical issue is pulmonary hypertension which is a serious condition that can lead to untreatable damage to the lungs. To detect this issue all infants should be evaluated by a pediatric cardiologist. Two other medical issues are problems with vision and hearing. Vision problems include amblyopia (lazy eye), near or farsightedness, and an increased risk of cataracts. Hearing loss can be associated with fluid buildup in the ear or structural problems of the ear. Regular check-ups with an audiologist and an ophthalmologist are needed to detect and correct any problems before they affect language and learning skills. Other medical issues that possibly will occur in children with Down syndrome include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, a higher risk of childhood leukemia, and upper neck abnormalities (Kids Health: Down Syndrome). Many of these conditions are treatable. Seeing the right physician will help each specific health issue. There are a number of organizations people with Down syndrome and caregivers can go to get help and support all around the country. One organization is called Chromosome Disorder Outreach which is located in Boca Raton, FL. This organization was founded in 1992 by a group of seven parents raising children born with rare chromosome disorders (Chromosome Disorder Outreach). Another organization is called the National Down Syndrome Society which is located in Manhattan. The mission of the National Down Syndrome Society is “to be the national advocate for the value, acceptance and inclusion of people with Down syndrome” (National Down Syndrome Society). A third organization is called the National Down Syndrome Congress which is located in Atlanta, GA. The National Down Syndrome Congress was founded in 1973 by group of people who had been meeting as a committee of the Association of Retarded Citizens. There are websites to each of these organizations. On each website there is a “join now” link for those who want to join the organization through the internet. There are also phone numbers to call to receive additional information. Turner syndrome is caused by a missing or incomplete X chromosome. This condition only occurs in females. In most situations, the female patient has only one X chromosome. Sometimes a female has some cells with two X chromosomes, but other cells have only one. The effects of Turner syndrome vary. It depends on how many of the body’s cells are affected by the changes to the X chromosome. Females with the condition are usually short in height. Females that weren’t treated for short height reach an average height of about 4 feet 7 inches (Teen’s Health: Turner Syndrome). Females with the condition sexual development and the ability to have children are affected due to underdeveloped ovaries. Nearly all females with Turner syndrome will be infertile, or unable to become pregnant. Other health problems occur in females with Turner syndrome include kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems. In addition to short height and lack of sexual development, other physical features frequently found in females with the condition include a webbed neck, a low hairline at the back of the neck, drooping eyelids, abnormal bone development, several moles on the skin, and extra fluid in the hands and feet. Although there is no cure for Turner syndrome, a number of treatments that can correct some problems associated with the condition, such as growth problems. Growth hormone treatment can improve growth. In many cases, the treatment can help females reach a final height in the average range. Another treatment for Turner syndrome is estrogen replacement, which helps develop the physical changes of puberty, including breast development and menstrual periods. This treatment is usually started when the female is 12 or 13 years of age. In vitro fertilization help women with Turner syndrome become pregnant. In technique a donor egg is placed into the uterus of the female and the woman can carry the pregnancy to term. There are a number of organizations people with Turner syndrome and caregivers can go to get help and support all around the country. One organization is called Turner Syndrome Society of the United State which is located in Houston, TX. The Turner Syndrome Society was created in 1987 by a group of women in Chicago for the purpose of networking and support. Another organization is called New Horizons UN-Limited which is located in Milwaukee, WI. New Horizons Un-Limited’s mission is to make information and life experiences accessible to individuals with lifelong disabilities and their families. Both of these organizations have a website which can be accessed at any time. There are phone numbers on these websites to call for support. Klinefelter syndrome is a disorder that affects only males. Males with Klinefelter syndrome have an extra X chromosome, giving them a total of 47 instead of 46 chromosomes. Males with this condition usually have small testes that do not produce enough testosterone, which is the hormone that directs sexual development before birth and during puberty. A lack of testosterone may lead to enlargement of breasts, reduction of facial and body hair, and infertility. Children and adults with Klinefelter syndrome tend to be taller than other males their age. Men with this condition have a high risk than men without the condition of developing breast cancer and lupus. Their chance of developing these disorders is similar to that of normal adult females. Males with Klinefelter syndrome may have learning disabilities and difficulty with speech and language development. They are often quiet, sensitive, and unassertive, but personality characteristics vary among males with this condition. Children with Klinefelter syndrome that have learning disabilities should receive additional help through school and at home. Having this condition may lead to emotional and behavioral problems which can be handled by a psychologist or counselor. Low testosterone problems can be helped with hormone replacement therapy. Males age 11- 12 will be given testosterone injections to replace the hormone that would normally be produced by the testes. Males with treatment mood, self-esteem, and behavior are better. They are less tired and irritable. Male characteristics such as body hair, strength, masculinity, and libido are improved. If the males develop breasts, the breasts can be surgically removed. Artificial reproductive techniques help men become fertile and have children. There are organizations people with Klinefelter syndrome and care givers can go to for help and support. One organization is called the National Organization for Rare Disorders (NORD) which is located in Danbury, CT. NORD is “committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service” (The National Organization for Rare Disorders). Another organization is called Klinefelter Syndrome and Associates which is located in Coto de Caza, CA. Klinefelter Syndrome and Associates has a mission to “enhance the quality of KS individuals' lives by assisting in their right of early diagnosis and treatment” (Klinefelter Syndrome). Both of these organizations have a website which can be accessed at any time. There are phone numbers on these websites to call for support. Pregnant women can be screened for different complications during pregnancy. Most standard prenatal screens can discover Down syndrome, Turner syndrome, and Klinefelter syndrome. Genetic counseling along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) are normally offered to families who may have an increased chance of having a child with genetic disorders, or where normal prenatal exams indicate possible problems. People with the genetic disorders presented have access to a variety of insurance plans to help pay for treatments. There are also different Social Security programs offered to people with disabilities. Families that want to receive Social Security benefits must be eligible to do so. For example, “the child must have a physical or mental condition, or a combination of conditions, that results in “marked and severe functional limitations.” This means that the condition(s) must very seriously limit your child’s activities” (Benefits For Children With Disabilities). Individuals with genetic disorders will face social stigmas. A social stigma is a severe social disapproval of personal characteristics or beliefs that are alleged to be against cultural norms. Stigmas against people with disorders are very common. Children are teased and out casted, families are ostracized, and schools wouldn’t include special programs to accommodate special needs students. This will cause individuals with the genetic disorder and their families to have emotional and behavioral problems. This is what the organizations are there for. They give support to those suffering to give them a sense of hope and belonging. There are so many types of disorders. Genetic disorders are just a specific class of disorders. There are individuals all around the world with all kinds disorders. The treatments and organizations offered to sufferers make their lives and their family’s lives a bit easier. It is very important for pregnant women to get screenings for complications so they could start making plans on raising their disabled child. Families should seek all of the financial support they can get because treatments are very costly and could put a family in debt. There are many different tools out there for families to use to make their lives easier. It’s up to them to go out and take advantage of those tools.

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