• Type 1- In this form of the disease, no brain is involved. Diagnosis can occur at any age, but it is found mostly in adults, with an average age of 20 years old at the time of diagnosis. Systems of individuals are healthy, and the disorder is found when the patient is examined for an unrelated complaint. 99% of cases are type 1. The most common symptoms involve the bones. It causes bone erosion of bone tissue and fractures.
• Type 2- This form of the disease is rare and occurs in infants. It involves the brain and leads to serious side effects. It contains serious signs and symptoms, such as liver and spleen enlargement. It usually develops at three months of age. These babies have brain damage that is extensive and grows rapidly.
• Type 3-This form of the disease is also rare, however, it occurs in children and adolescents. This type of the disease has a slower growth period than the others. An enlargement of the liver and spleen may vary intensely. Although the brain is affected, brain involvement tends to be relatively mild. 

Types 2 and 3 account for only 5 percent of Gaucher Disease cases.

Symptoms:

• ***bone pain and fractures
• enlarged spleen and/or liver
• anemia (low red blood cell count)
• a greater chance of bruising easier (this may mean that you have a low blood platelet level)
• bleeding
• skeletal abnormalities including thinning of bones
• excessive fatigue
• mental retardation
• yellow spots in your eyes
• abnormal eye movements
• impaired function of lungs and kidneys
• brownish color of skin

Treatment for Gaucher's Disease:

Gaucher's disease has little to no cure. Recently, treatment options for type 1 and 3 include medicine and enzyme replacement therapy. It has been made available to treat specific problems in the disease. Other treatments result in spleen removal and bone marrow transplants. Both of these carry horrible risks. Although there is little treatment for type 1 and 3, type 2, unfortunately, has no cure to this day.

Can you be affected by Gaucher's Disease?

This disease is passed along in an inheritance pattern called autosomal recessive. Both parents need to be carriers of the Gaucher's genetic mutation in order for their child to develop the condition. Even when both parents are carriers, there is still a 25% chance that a child will develop the serious disease. There is a 50% chance that the child will be an unaffected carrier. Then, there is a 25% chance that the child will not be a carrier nor carry the disease.

Who seems to be affected the most by Gaucher's disease?

This disease occurs most in the Eastern or Central European Jewish ancestry. This is more likely because of the ancestry that occurs. It affects anyone at any age in both male and females.

In what ways can you be tested or determine if you carry the disease?

A doctor can draw a blood sample for genetic testing that will determine whether you are a carrier or not. Testing is done by blood sample analysis when the level of the enzyme responsible for Gaucher Disease is measured, and the Gaucher gene itself is analyzed at the molecular level. Individuals who are carriers have an enzyme level that is intermediate between that of affected people and non-carrier individuals. Affected humans have two Gaucher genes and have low enzyme levels.

Is testing accurate?

The use of direct testing or molecular DNA analysis has provided an increase of 98% accuracy to testing.

To determine whether a baby who is in the womb carries this disease: A needle is inserted through the abdominal wall and uterus into the amniotic sac surrounding the fetus. A small amount of amniotic fluid is removed, and the fluid contains fetal cells that can be grown in the laboratory for study. When a reasonable amount of cells have grown, they are studied by DNA techniques. By measuring the level of acid betaglucosidase in the fetal cells, it can be determined whether the newborn will have Gaucher disease or not. This procedure is called "chorionic villus sampling."

Lifespans of disease carriers in types 1,2, and 3:

Type 1: usually occurs in adults and the lifespan is 6-80 years after diagnosis

Type 2: occurs in infants; fatal before the 3rd year of the infant's life

Type 3: usually occurs in the childhood of an individual; the average amount of years a person will live is 2-60 years after diagnosis                        

Now that you have gotten the chance to understand Gaucher's Disease more in depth, it can be your turn to donate! The chance is yours! Thanks so much for your time and donations! It is greatly appreciated!

Wesbites used:

www.gaucherdisease.com

www.ninds.nih.gov/disorders/gauchers/gauchers.htm

www.ncbi.nlm.nih.gov

www.mayoclinic.com