Gaucher Disease:

Gaucher disease is a genetic disorder in which a person lacks an enzyme called glucocerebrosidase. It allows a harmful substance called lipid to build up in major parts of your body. The disease is called Gaucher disease because the first person to document the disease was named Dr. Phillppe Gaucher. There are 3 different kinds of Gaucher disease. the first is Type 1, the most common. Patients usually bruise easily, have anemia, low blood platelets, an enlarged liver and spleen, skeletal disorders, and sometimes lung and kidney problems. In Type 2 patients have liver and spleen enlargement, extensive a and progressive brain damage that usually show up by three months of age and the pateints usually die by age 2. In type 3 ther is liver and spleen enlargement and things like seizures can show that the brain is affected.

  • Bone pain and fractures
  • Cognitive impairment
  • Easy bruising
  • Enlarged spleen
  • Enlarged liver
  • Fatigue
  • Heart valve problems
  • Lung disease
  • Seizures
  • Severe swelling at birth
  • Skin changes

What does the disease affect?
Gaucher disease affects the liver, spleen, bones, and bone marrow and causes harmful lipids to build up in them.

Can it be treated?
Type 1 and most of Type 3 of Gaucher disease can be treated with enzyme replacement tharapy and bone marrow replacement in very severe cases. Some people can live a normal, healthy life with Gaucher's disease whereas some with Type 2only live up to age 2.

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This baby has Gaucher's disease. You probably can't tell that they have Gaucher's disease because most symptoms of it are internal like enlarged sleen and liver. There are some like easy bruising and skin changes that are physical but you usually cannot tell if someone has the disease.

How to know if you have it:
If you are of Jewish heritage or have a family history of Gaucher's disease you are more likely to get it than anyone else. It is a resseive mutation trait which means both parents must have the alleles for that trait in order for the child to get that trait. And even though symptoms arrive at a relativley early age, if you are expiriencing any of these symptoms you should consult a doctor.

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