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The type of treatment a person receives will depend on what type of Gaucher’s they have. One of the most prevalent ways of treating the disease is through enzyme replacement therapy. This type of treatment helps those with Type 1 and some individuals with Type 3. It helps the body produce more red blood cells and shrinks an enlarged liver or spleen. The medications used in enzyme replacement therapy include; Velaglucerase alfa, Taliglucerase alfa and Imiglucerase.
The medications Eliglustat and Miglustat are also treatment options available for Type 1. These drugs might curb the body’s process that forms the fatty materials in those with an enzyme deficiency.

There are no treatment options that can stop or slow Type 3 from damaging the brain. However, here are other treatments that can help manage the symptoms and these include:
- Surgical removal of an enlarged spleen
- Blood transfusions to treat anemia
- Medications to help make bones stronger and prevent fatty buildup and pain management
- Joint replacement surgery for better mobility
- Stem cell transplant to reverse Type 1 symptoms. This procedure is very complicated and not without risks, it can cause both short and long-term issues, so it’s not frequently used.
What Can A Person Expect As The Disease Progresses?
As Gaucher’s disease progresses, each person can expect their symptoms to be different. The most important thing is to work with your physician and possibly a team of specialists to ensure you are getting the best care. Treatment could alleviate the symptoms of the disease, but there is currently no cure.
Researchers are working on finding new and better treatments to help those suffering with Gaucher’s disease. You may wish to see your doctor to find out about the opportunity to become involved with a clinical trial.
Children with Gaucher’s may not grow as quickly as other children, they may even reach puberty at a later date than their peers.
Some people with Gaucher’s disease have extreme pain and fatigue. Those with severe symptoms may not be able to live independently and could require live-in assistance from a caregiver.
Whether you have recently been diagnosed with Gaucher’s disease or are taking care of someone who has it, it is very hard to manage it.The support of others who are faced with the same diagnosis and challenges that you could be facing, might help you feel less isolated and could be a valuable resource of information.
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Some people with Gaucher could benefit from counseling, because it can help in managing emotions, frustrations and fears. If counseling is not something you’re considering, you may want to think about contacting the National Gaucher Foundation. The organization has a mentor program that may help you get in touch with others who can share experiences and give you good feedback and ideas to make your life easier.
- ghr.nlm.nih.gov/condition/gaucher-disease
- www.genome.gov/25521505
- www.gaucherdisease.org/
- www.gaucherdisease.org/gaucher-disease-testing.php?gclid=CPu39deSu8YCFQqsaQodesMDpQ
- Photo courtesy of Sheep Purple via Flickr: www.flickr.com/photos/sheeppurple/3681070525
- Photo courtesy of funky fat girl via Flickr: www.flickr.com/photos/56956103@N00/3004480268
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