#1 What is a Genetic Counselor?

     Genetic counselors are counselors trained to help families understand and get to know genetic disease more deeply. They are also there to help provide support and information to those families. They can also assist families by locating them to advocates that can help them.


"Genetic Counselors." Learn.genetics.utah.edu. Web. 12 Mar. 2011. <http://learn.genetics.utah.edu/content/disorders/whataregd/counselors/>.

#2 How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

     Gaucher disease is an autosomal recessive disorder. This means that the disease is found on the autosomal chromosomes, and not the sex chromosomes. A person can inherit this disorder by their parents. Depending on their parents traits, that will determine what the child will have. Since gaucher disease is recessive, it is not commonly seen, or heard of very much.


"Who Gets Gaucher Disease." Cvscaremarkspecialtyrx.com. 30 Apr. 2010. Web. 12 Mar. 2011. <http://www.cvscaremarkspecialtyrx.com/patients/condition-resources-tools/lysosomal-storage-disorders/gaucher-disease/newly-diagnosed/who-g>.

#3 If this disease is genetic what are the possible phenotypes of the parents? If the disease is a chromosomal abnormality, describe the abnormality.

     Gaucher disease in inherited and is considered a autosomal recessive trait. If your parents were to both be carriers of the trait, then you would have a 25% chance of getting the disorder, and a 50% chance of being a carrier. If your parents were both healthy it is impossible to get it. That goes the same for if both your parents have the trait, then you would have a 100% chance of getting the disease. If one of your parents is effected and the other does not, then it would be impossible for you to be anything but a carrier. Finally if one of your parents is a carrier and the other has it, then it is a 50-50 chance that you will be either a carrier, or effected.


"Who Gets Gaucher Disease." Cvscaremarkspecialtyrx.com. 30 Apr. 2010. Web. 12 Mar. 2011. <http://www.cvscaremarkspecialtyrx.com/patients/condition-resources-tools/lysosomal-storage-disorders/gaucher-disease/newly-diagnosed/who-g>.

#4 How prevalent is the disease in the population?

     Gaucher disease affects people from a range of 20,000 to 40,000 people all over the world. This disease affects every ethnic group in the world. Not just the jewish population. Ranges of new diagnosis on people raised from 57,000 to 86,000 people. Among this population the number of new cases risen was from 500 to 800. It does take genetic changes to cause gaucher disease, and of these genetic changes about 95% percent of them happen in the Jewish population. And becuase the gene for gaucher disease is located on the Autosomal chromosomes, boys and girls have the same chance of getting the disease.


"Who Gets Gaucher Disease." Cvscaremarkspecialtyrx.com. 30 Apr. 2010. Web. 12 Mar. 2011. <http://www.cvscaremarkspecialtyrx.com/patients/condition-resources-tools/lysosomal-storage-disorders/gaucher-disease/newly-diagnosed/who-g>.

#5 What are the chances of a person with this disease passing the disease to thier offspring?

     If both of your parents were to be carriers of gaucher disease, then you would have a 25% possibility of having the disease. It does not matter if you are a boy or a girl, you will have the same statistics. Since gaucher disease is autosomal recessive, their are not much people effetced by this disease. If you are not effected by this disease the you will be a carrier, which means that you do not have the disease, but you do have a chance of passing it off to your offspring.


"Related Diseases Gaucher." Ntsad.org. Web. 12 Mar. 2011. <http://www.ntsad.org/S02/S02gaucher.htm>.

#6 How is the disease diagnosed?

     The diagnosis is based on labratory testing and clinical symptoms. The diagnosis is suspected among individuals who have bone problems, bleed very easily, change in blood cells, and an enlarged liver or spleen. What the labratory testing does is takes blood samples to measure the activity of the enymes. If the enzmes are in high levels, then the person does not have gaucher disease. If the person has a unnormal low amount of enzyme levels then the person probably has gaucher disease. You can also diagnose it by a different process, this would be by DNA analysis of the GBA gene for mutations. You do not need to have a bonemarrow or liver biopsy to diagnose gaucher disease.


"Learning About Gaucher Disease." Genome.gov. Sept. 2010. Web. 12 Mar. 2011. <http://www.genome.gov/25521505>.

#7 What are the physical symptoms of the disease?

     There are not obvious signs of gaucher disease by looking at a person, but looking at the way they act, walk, and are active can give you a clue to see if they have they disease. If the person is know to bleed a lot, or have bruises often, then this is a clue to leading you to see if they have the disease. If they seem off balance, or unsteady sometimes, this could also help prove to see if a person does have the disease. Also if the person says hes full after eating very little, or they are tired nearly all of the time, then you can have a guesture to what the person has. All of these are ways to figure out if a person has gaucher disease while just looking and observing the person.


"Raising Awareness of Gaucher Disease." Jewishfederations.org. Web. 12 Mar. 2011. <http://www.jewishfederations.org/page.aspx?id=28390>.

#8 What is the life expectancy of someone with the disease?

     Usually the life expectancy of somebody with gaucher disease is between the ranges of 64-68 years of age. These predictions are usually made at birth, and are sometimes really acurate. This is about 9-12 years less than what the life expectancy of a regular person life span is.


Hematol, Am J. "Life Expectancy in Gaucher Disease." Ncbi.nlm.nih.gov. 12 Dec. 2008. Web. 10 Mar. 2011. <http://www.ncbi.nlm.nih.gov/pubmed/18980271>.

#9 How can the disease be treated?

     One way to get rid of gauchers disease is to go through enzyme transfusion. What this does is replace the unused "broken" enzyme, with a new fresh one, or they will just remove it and do nothing about replacing it. This is the most recent used treatment for the disease. Although you do have to keep on replacing and refusing enzymes, it is proven to work well.


"Living With Gaucher Disease." Investmentguide.co.uk. 25 Jan. 2006. Web. 10 Mar. 2011. <http://www.investmentguide.co.uk/gaucher/living.htm>.

#10 What is everyday life like? What is the qualtiy of life?

     Children with gaucher disease are limited to physical abilities and athletic events. Reason is they grow slower, they are usually slower, and shorter while growing up. The kids may seem uneven or offbalance, they are usually under weight and under height, and they are usually babied and extremely looked carefully at. The kids are not encouraged to play physical contact games (football, basketball, lacrosse, etc.), and they are more encouraged to take non-physical sports such as swimming, bicycle riding, and/or dance.


"Living With Gaucher Disease." Investmentguide.co.uk. 25 Jan. 2006. Web. 10 Mar. 2011. <http://www.investmentguide.co.uk/gaucher/living.htm>.

#11 What limitations does the person have?

     When a person has gaucher disease, it means that they sometimes have blood clots, and that can cause pain in different ways. Sometimes when a person walks or jogs a long distance the pain can vary from mild, to extremely severe. Walking usually becomes a issue eventually, and people feel pain even while moving their arms, legs, head, and their body. Rarely does the disease cause a person to be in a hospital bed, but if so, then adults will be allowed extra hours off work, and kids would be let out of school early, so they can be treated. While taking time off it relaxes the joints causing less pain, and allowing the muscles to relax.


"Living With Gaucher Disease." Investmentguide.co.uk. 25 Jan. 2006. Web. 10 Mar. 2011. <http://www.investmentguide.co.uk/gaucher/living.htm>.

#12 What are some organizations that can help a family cope with a child's disorder?

   Some of the organizations that help children and kids with gaucher disease are the National Gaucher Foundation, Genetic Alliance, and the Children's Gaucher Research Fund. These organizations try to find a cure, and ways to prevent the disease from happening to other children.


"Gauchers Disease." Gaucherdisease.com. Web. 10 Mar. 2011. http://www.gaucherdisease.org/.

"Related Diseases Gaucher." Ntsad.org. Web. 10 Mar. 2011. <http://www.ntsad.org/S02/S02gaucher.htm#G>.

#13 How possible is it that a cure will be found?

     Some ways of resolving this issue is by blood tansfusions, and sometimes spleen removal. More recent tests and studies show that the removal of enzymes also has a positive effect on the disease. The down side of the enzyme removal is that they are very pricy, you need to repeat the infusion more than once, and there is very little supply of the medicine.


"Related Diseases Gaucher." Ntsad.org. Web. 10 Mar. 2011. <http://www.ntsad.org/S02/S02gaucher.htm>.