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Gaucher's Disease

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Treatment depends on what type of Gaucher's disease you have.

Enzyme replacement therapy is one treatment option for people who have type 1 and some with type 3. It helps make more red blood cells and shrinks an enlarged spleen or liver. Enzyme replacement therapy medications may include:

  • Cerezyme (imiglucerase for injection)   
  • Elelyso (taliglucerase alfa)  
  • VPRIV (velaglucerase alfa)

Another treatment option for type 1 is Cerdelga (eliglustat), an oral drug that inhibits the metabolic process that forms the fatty materials in patients with the enzyme deficiency.

There is no treatment that can stop type 3 from causing damage to your brain. Other treatments can help your symptoms, including:

  • Blood transfusions for anemia
  • Medications to strengthen your bones, prevent fatty buildup, and ease pain
  • Joint replacement surgery to help you move better
  • Surgery to remove a swollen spleen
  • Stem cell transplant to reverse type 1 symptoms. This procedure is complicated and can cause both short-term and long-term problems, so it is rarely used.

What to Expect

Because the disease is different for each person, you'll need to work with your doctor to make sure you're getting the right care you need. Treatment can help you feel better and may help you live longer.

Researchers are working to find new treatments that help more. You may want to ask your doctor about clinical trials, to see if you could take part.

Children with Gaucher’s disease may not grow as quickly as other children. They may be late in reaching puberty.

Depending on your symptoms, you may need to avoid contact sports or limit your activity.

Some people have severe pain and fatigue. It may take extra effort to be active. Little things can make a big difference. For example, wheelchairs or crutches can help when you're having trouble walking. Naps may also help.

People with severe symptoms may need help and may not be able to live alone.

Whether you have it yourself or are caring for someone who has it, this is a tough disease to manage. The support of others who face the same challenges can help you feel less isolated. Sharing information and tips can help make daily life easier.

Professional counseling may also help you manage your feelings and frustrations about living with Gaucher’s disease.

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