Q: What is Gaucher Disease?
Gaucher’s is a genetic disorder with varying symptoms that range from mild to severe physically as well as neurologically. People with the Gaucher have a mutated form of the glucocerebrosidase enzyme, so it doesn’t work like it is supposed to. Instead, the body ends up with more undigested cells (Gaucher cells) than it should have throughout the body.
Gaucher disease treatment is very expensive, especially for patients with more acute, central nervous system involvement. Check out this “layman’s” continuum from the Children’s Gaucher Research Fund’s website.
Q: How many types of Gaucher’s is there?
- Type 1 – No brain involvement (affects both kids and adults)
- Type 2- Acute (symptoms usually appear in infancy or early childhood)
- Type 3 – Chronic (symptoms usually appear in infancy or early childhood)
Q: How is Gaucher Disease diagnosed?
Via a blood test also known as an assay. This specific test measures activity levels of the enzyme glucocerebrosidase.
Q: How can Gaucher’s be treated?
Type 1 can be treated via enzyme replacement infusions. They’ve helped maintain some control over non-central nervous system symptoms. Type 2 and type 3 have not been effected by the replacement enzyme. Further, most children diagnosed with Gaucher Disease die before the age of five.
Q: Does being male or female affect the likelihood of inheriting Gaucher’s?
No. A carrier’s sex has nothing to do with having Gaucher’s. Development of Gaucher Disease is dependent on both parents have 2 defective copies of the gene (the glucocerebrosidase gene).
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These are basic facts about Gaucher’s. Check out these sites for additional resources and information on Gaucher’s symptoms and Gaucher’s treatment.
- Children’s Gaucher Research Fund
- Gaucher Care
- Adult vs: Pediatric Gaucher Disease via the Rare Disease Report – video of Dr. Zachary Spigelman, MD