How to Talk to Your Doctor About Gaucher Disease

You'll need to work closely with a doctor if you or your child is living with Gaucher disease. He'll help you manage your symptoms and keep your bones and organs healthy. It's important to know what to ask so you can get the most out of each checkup.

Doctors You'll See

You or your child may need to see different types of doctors. Your Gaucher team might include specialists like a:

  • Cardiologist  for your heart
  • Hematologist who manages blood problems
  • Neurologist to treat brain and nervous system issues
  • Orthopedist to check your bones
  • Surgeon if you need an operation
  • Psychologist or other mental health expert for emotional concerns
  • Genetic counselor who explains your risk of passing Gaucher to your children

Plan for Your Doctor Visit

Before each appointment, write down a list of questions to ask. Be ready to tell your doctor about:

  • Symptoms like fatigue, bruising, or bleeding and how they've changed
  • Medicines you or your child take
  • Any other health problems you've had

What to Expect at Checkups

Your doctor will do exams every few months to look at your progress. During each visit he'll ask about your symptoms. You might get tests of your bones, spleen, and other organs.

Gaucher disease can weaken your bones, so your doctor will monitor your bones with special testing. Usually this will be an MRI but a DXA scan could also be used.

Your doctor may also order an MRI to look for changes in your spleen and liver. It uses powerful magnets and radio waves to make pictures of organs and structures inside your body. You'll need to hold still during this test, and you might also have to hold your breath briefly. An MRI takes about 45 minutes.

If your child can't lie still for very long, he may get medicines to help him sleep during the MRI.

During your visits, your doctor will go over the treatments you need to control the disease and manage symptoms. Every time he prescribes a new medicine, ask him:

  • How will this treatment help with Gaucher disease?
  • How often will I need to see you during treatment?
  • What side effects can the medicine cause and what can I do about them?

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It's likely you may be getting a treatment called enzyme replacement therapy (ERT), which replaces an enzyme your body is missing. During your visits, the doctor will adjust the dose and check to see if you've had any side effects from it. Another type of treatment called substrate reduction therapy (SRT) may also be an option.

Make sure you understand everything your doctor tells you during the appointment. If something isn't clear, ask for an explanation. It can help to write down your doctor's instructions. Make sure you know how to take your medicine and care for yourself or your child at home.

Learn How to Manage Symptoms

Gaucher disease can cause symptoms like fatigue, bruises, and bleeding. During your checkups, your doctor will explain how to manage these problems at home.

Ask your doctor:

  • How to get more energy when you feel tired
  • What to do about school when your child doesn't feel well
  • What sports or activities your child needs to avoid to prevent bleeding, bruising, and a ruptured spleen
  • How to protect your bones and avoid breaks

To stay healthy, follow your treatment plan. If you stop taking your medicine, your Gaucher symptoms can come back.

Go to all of your follow-up visits. Let your doctor know right away if your symptoms get worse, or you have new ones.

When to See a Genetic Counselor

Gaucher disease is passed down from parents to their children. If you and your partner carry the Gaucher gene, each of your children has a 1 in 4 chance of having the disease.

If Gaucher disease runs in your family, a genetic counselor can help you learn your risks of passing the disease to your children. He'll ask about your family medical history.

You can get a blood test to see if you and your partner carry the gene that causes Gaucher. Gene tests can also be done during pregnancy to find out if your unborn baby has the disease.

WebMD Medical Reference Reviewed by Louise Chang, MD on August 04, 2018

Sources

SOURCES:

Childbirth Connection: "Genetic Counseling."

Children's Hospital of Pittsburgh: "Gaucher Disease."

Medscape: "Gaucher Disease Treatment & Management."

Nagral A. Journal of Clinical and Experimental Hepatology, March 2014.

National Gaucher Foundation Inc.: "Prevalence and Transmission of Gaucher Disease," "Symptoms of Gaucher Disease."

National Institute of Neurological Disorders and Stroke: "NINDS Gaucher Disease Information Page."

Nationwide Children's Hospital: "Vitamin, Gene, and Enzyme Replacement Therapy."

Nemours Foundation: "Magnetic Resonance Imaging (MRI)."

Saint Luke's Health System: "Gaucher Disease."

Simpson, W.L. World Journal of Radiology, September 2014.

USCF: "Prepare for Magnetic Resonance Imaging (MRI)."

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