Works Cited

http://learn.genetics.utah.edu/content/disorders/whataregd/counselors/

http://nervous-system.emedtv.com/tay-sachs-disease/tay-sachs-disease.html

http://lateonsettay-sachs.org/index.php?p=ct&pgid=1

http://kidshealth.org/parent/medical/genetic/tay_sachs.html

http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease (picture)

http://tay-sachsdisease2.blogspot.com/2011/11/how-is-disease-diagnosed.html

http://www.beltina.org/health-dictionary/tay-sachs-disease-symptoms-treatment.html (picture)

http://tay-sachsdisease2.blogspot.com/2011/11/what-are-physical-symptoms.html

http://www.curetay-sachs.org/dream.shtml (picture)

http://denisewilbon.blogspot.com/ (picture)

http://runacrossalabama.blogspot.com/2010_05_01_archive.html (picture)

http://tay-sachsdisease2.blogspot.com/2011/11/organizations-that-can-help-family-cope.html

http://tay-sachsdisease2.blogspot.com/2011/11/how-possible-is-it-that-cure-will-be.html

http://www.ldnz.org.nz/news_and_issues/conference_reports/national_tay_sachs_and_allied_diseases (picture)

Cure?

There is no possible cure for Tay Sachs disease as of now unfortunately. Doctors are experimenting with enzymes replacement therapy, but it will take years for an actually cure to be found. All we can do is be patient and have hope that a cure will come soon.

  

Web Links

Here are a couple of organizations that can help a family cope with a child's disorder such as Tay Sachs Disease:

•  https://www.inspire.com/groups/rare-disease/ (NORD Rare Disease Support Community)
• https://www.inspire.com/groups/genetics-and-birth-defects/ (Genetics and Birth Defects Support Group)
• http://www.mayoclinic.org/ (Mayo Clinic)

Everyday Life

For the first couple of months the baby's growth is normal. The symptoms start to show and get worse as years go by. When the symptoms are fully in action the quality of life is not so pleasant to the child or family.

Treatments

Tay Sachs is a very deadly disease and cannot be treated to help or save a child. That is a really sad thing to know because they do not have the opportunity to live past the age of five.  

Life Expectancy

The life expectany of a child with Tay Sachs Disease usuaully lives to be about four or five years old. If a child lives longer than that with this disease is truly a blessing.

Physical Symptoms

Physical symptoms of a child with Tay Sachs disease are deafness, blindness, dementia, decreased muscle tone and mental/social skills, listlessness, no motor skills, paralysis, seizures and slow growth. Symptoms usually start to show between three to six months after the baby is born.

Diagnosis

Tay Sachs disease is diagnosed by going to a doctor and having an enzyme analysis of hexosaminidase (Hex-A) or an eye examination.

Possibilties

   There are three different chances of a parent passing on Tay Sachs disease to their children. Fifty percent of chances are that their child will be a carrier, but not have the disease. Twenty-five percent of chances are that their child will not be a carrier and not have the disease. Lastly, the other twenty-five percent of chances will be that their child will have the disease. 

   For instance, if two parents are carriers of Tay Sachs disease their child would most likely have it. Another example is if only one of the parents have the disease, the outcome will either good or bad. The child come out with the disease or not have it at all. 

Statistics

If only one of the parents is a carrier of the Tay-Sachs gene mutation then only two outcomes are possible. There is a 50% chance that no gene mutation is passed and the children are not carriers and a 50% chance the gene mutation is passed and the child is a carrier. A one-carrier family cannot have an affected child.

•      1 in every Ashkenazi Jews, Cajuns community of Louisiana, or French Canadians is a carrier
•      1 in every 50 Irish-Americans is a carrier
•      1 in every 250 people is a carrier 

Genotypes

Since Tay Sachs is a genetic and recessive disease, possible genotypes of the parents would be two little T's.

Inheritance

Tay Sachs Disease is inherited if both parents are carriers of the disease and each child has a 25 percent chance of having the disease and a 50 percent chance of being a carrier. Tay Sachs is a genetic disease. It is also an autosomal recessive disease.

Genetic Counselors

   Genetic counselors are health professionals who are trained to help families understand genetic disorders and to provide information and support to those families. They may also serve as patient advocates by referring individuals or families to local services that can be of assistance.
   Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. A qualifications of becoming a genetic counselor is to  submit documented experience and pass a state examination and earn a master's degree in college. A genetic counselors job is to talk to a family about a disease and help them understand it as I stated before.