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Gaucher's Disease

Treatment

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:

Other treatment options for type 1 are eliglustat (Cerdelga) and miglustat (Zavesca), which are pills that curb the body's process that forms the fatty materials in people with the enzyme shortage.

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

  • 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. Treatment can help you feel better and might help you live longer.

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

Children with Gaucher’s disease might not grow as quickly as other children. They might 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, though. For example, wheelchairs or crutches can help when you're having trouble walking. Naps might also help.

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

Whether you have the disease or are caring for someone who has it, this is a tough condition 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 might also help you manage your feelings and frustrations about living with Gaucher’s disease.

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