Treatment and Life Expentancy

Treatment

There are three types of Gaucher's. Type 1, 2, and 3. According to http://www.genome.gov/, "type 1 is the most common. Type two causes serious medical problems beginning in infancy, while Type 3 progresses more slowly than Type 2".

Scientists have not found a cure for this disease yet, but there are therapies and medicine that can slow down the disease.

Here are some treatments that can be used.

• Replacement Enzyme Therapy - For most type 1 and 3 patients: Dramatically decrease liver and spleen size, reduce skeletal abnormalities, and reserve other manifestations.

• Bone Marrow Translation - (Most common) Cures the non-neurological manifestations of the disease, because it introduces a monocle population with active beta-glucosidase.

• Medication - Zavesca

• Prognosis

Life Expectancy

• Type 1: 68 years. Gaucher's can occur at any time. If it happens during childhood, most won't live beyond 2 years old. 
• Type 2: Death at child age. 
• Type 3: Live into adult hood.

Spread The Word

Gaucher's Disease is very rare disease, but it is a deadly. Print this poster we made and help spread the word about Gaucher's Disease! Post it around schools, hospitals, stores, libraries to tell people the importance of Gauchers!

Compare

Normal Bone Marrow cell

Gaucher Bone Marrow cell

source -http://www.gauchercare.com/

Prevention for Gaucher's!

Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if the fetus has Gaucher syndrome.

You can find a list of locations on http://www.gaucherdisease.org/gaucher_treatment_locations.php to find out if you are inherited with the Gaucher's gene.

Souce: http://www.gaucherdisease.org/

Inherited with Gaucher's?

The genes for glucocerebrosidase (glū′kō-ser′ĕ-brō-sīd) are  passed on from parents to children. In Gaucher disease, the blueprint for the glucocerebrosidase enzyme (a type of protein), is defective. As a result, the glucocerebrosidase produced from these genes is unable to perform its normal function.

Gaucher's disease is an autosomal recessive disease. Autmosomal recessive means both copies of the gene in each cell have mutations. Both parents have to be carriers and they are unaffected. Each parent carries one copy of the mutated gene but they don't show signs of the disease.

There is a 50/50 chance that the offspring's of the parents are inherited with Gaucher's disease, in which gender does not matter. A person with one normal gene and one defective gene for glucocerebrosidase is a carrier of Gaucher disease. It is most common in the Ashkenazi areas with 1 out of 10 people being carriers.

How are the offspring's carriers?  

If both parents have normal genes for glucocerebrosidase, each child will inherit two normal genes (one for each parent) and will neither have Gaucher disease or be a carrier.

If one parent is a carrier of Gaucher disease and the other parent is not, there is a 50/50 chance of having a child who inherits Gaucher disease and becomes a carrier of the disease. None of the children will have Gaucher disease, because they will have one normal gene inherited from their parent that is not a carrier.

If both parents are carriers of Gaucher disease, with each pregnancy there is a 25% chance of having a child who inherits one mutated gene from each parent, and becomes inherited with Gaucher's disease. There is a 50/50 chance of having a child who inherits one mutated gene from one parent and a normal gene from the other parent, and becomes a carrier of the disease. Lastly, there is a 25% chance for each pregnancy of having a child who inherits two normal genes, one from each parent, and who neither has Gaucher's disease, becomes a carriers.