Symptoms vary extensively from person to person but the first sympton is most commonly the fracturing of bones or pain in the bones. Other symptoms are:

1. Thinning of bones or irregular skeletal functions.
2. Anemia because you dont have many healthy blood cells.
3. Always being tired
4. Easy bruising which can mean you have a low blood platelet level.
5. Brain deterioration such as dementia or mental retardation.
6. Spots of yellow in your eyes and irregular eye movements.
7. Brownish coloring in your skin.
8. Malfunctioning in your lungs or kidneys.

• Type 1: There is no brain involvement. It can occur at any age but it is most commonly seen in adults typically 20 years old at the time of their diagnosis. It is the most common type. It is common in Jewish people.
• Type 2: This form is rare. It occurs in infants with harsh symptoms. These babies have great brain damage that progresses quickly. People with type 2 commonly have serious complications such as seizures, abnormal movements, and swallowing problems. These can lead to death which is why children with this type usually die around 2 years old.
• Tpye 3: This form is also rare. It is seem in children and teenagers. It has a long duration and develops slower than Type 2. The brain is affected but it is mild. Symptoms very widely. It is more common in Swedish people.

Other complications are major swelling, damaging of heart valves making it harder for them to open to their fullest, and a tendancy to bleed in things such as nose bleeds or bleeding internally.

(Types 2 and 3 make up only 5% of the cases of Gaucher's disease victims)

People with mild cases of the disease have regular life expectancy but children whose illness starts when they are a baby have a very short life expectancy.

People with Type 1 Gaucher's disease diagnosed in their childhood can have hepatosplenomegaly, pencytopenia, and crippling skeletal disease but many affected people never have signs or symptoms and dont get medical help. Types 2 and 3 are present in early childhood. Some people who have Parkinsonism have been seen to have Gaucher's disease at a later age. Below is a simple chart of the parts of your body that are affected by Gaucher's disease.

If your doctor thinks you have the disease or if it runs in your family then you can be diagnosed by having a blood test. The test measures the levels of the enzyme affliliated with the disease because people who have Gaucher's disease have low amounts of the enzyme (glucocerebrosidase) in their bloodstream. If you are only a carrier of the disease you will have a level of enzymes in between the amount of someone who doesnt and someone who does have the disease. If youre test comes out positive that you have the disease your doctor will probably want you to have regular tests to log its growth. These tests unclude Dual Energy X-ray Absorptiomertry and Magnetic Resonance Imagine Scans. If you are pregnant and diagnosed with the disease, your doctor will want you to be tested to see if your baby is at risk.

Gaucher's disease has no cure but treatments can include Enzyme Replacement Therapy, Bone Marrow Transplantation, and the medication Miglustat (Zavesca). You will want to see a Medical Geneticist, Hematologist, Orthopedist, Neurologist, or a Neuro-ophthalmologist.

Going on a diet does not affect Gaucher's disease negatively or positively. Some patients with Gaucher's disease, such as ones who have splenomegaly or thromboctyopenia, cannot play contact sports or other activities that put them at risk for splenic rupture or bleeding.

Above is a typical Gaucher cell in the bone marrow.

This is what someone who has Gaucher's disease can look like on the outside.