Chronic illnesses such as Gaucher disease pose many challenges. For adults, it may be frustrating not to be able to participate in certain activities or to make certain lifestyle choices. Similarly, parents of a child with Gaucher disease may feel helpless and uncertain about their child’s future.

While it’s true that Gaucher disease will likely be a lifelong challenge, there are ways that may enable you to gain some control. You should consider becoming an active participant in your care and work with your doctor to make the choices that are right for you or your child.

Getting involved in treatment means having a good partnership with your doctor. This section suggests some steps you may take to build this partnership and increase your understanding of Gaucher disease.

Find the right doctor

Different doctors have different styles of communication: some are formal, some are casual; some talk clinically, some communicate in lay terms. You may want to find a doctor who communicates in a way that is comfortable for you.

As you’re looking for the right doctor, it might help to make a list of the qualities you find important. Then you can locate doctors in your area who fit your criteria. You can also ask friends, family members, or members of Gaucher disease support groups for ideas and physicians to consider.

You may want to meet with several doctors before making a final decision on a physician that you feel communicates in a manner appropriate for you and understands your needs and concerns.

Be prepared

To make the most of doctor visits for you or your child, consider planning ahead. Whether it’s your first meeting or you’ve been seeing the doctor for years, you may find it helpful to prepare a list of your questions and concerns beforehand. If it is your first visit to a new doctor, here are some things you may want to include:

All of your symptoms, when they began, how often you or your child experience them, and how they’ve changed

The medications you or your child take

Your or your child’s medical history

Any problems you or your child may have with daily activities

Get educated

The more you know about Gaucher disease, the bigger the role you may play in maintaining good health. There are a lot of places to get information about Gaucher disease, management, and treatment. Your doctor is usually your primary source of information. It may help to write down any new information he or she gives you, or ask your doctor to provide written advice and instructions before you leave the office. The doctor also may have other materials to give you, like tapes, brochures, or videos about Gaucher disease.

The Internet may also be a valuable resource. On this website, you can visit About Gaucher Disease. Additional websites can be found in Related Links. You may want to print out any useful pages you find for later use or to show to your doctor.

Any time you take in new information from any source, it may assist you to take notes. You can then add any questions to your list for your next doctor’s visit.

Ask questions

Remember, you may want to ask your doctor questions if you need more information or clarification. Don’t be embarrassed to ask him or her to define new words or to explain any recommendations differently. It’s also a good idea to repeat what your doctor has told you in your own words, just to make sure you have understood everything.

Be open

Being open is helpful to forming a good partnership with your doctor. This may mean telling him or her about symptoms that may be difficult for you to talk about, or admitting that you have not understood something he or she has told you. However, it may be helpful for the doctor to know these things. A change or a new symptom may mean that the treatment needs to be adjusted. Clarifying any misunderstandings may help your doctor better understand your needs.

Understand the treatment

Here are a few questions you may want to ask about your therapy and medications:

How and when should it be taken?

What are the side effects?

How will it interact with other medications?

How much will it cost?

Is it covered by my insurance?

Additionally, if you hear about a new treatment or medication, you may want to ask your doctor for more information.

Important Safety Information

Side effects related to Cerezyme® (imiglucerase for injection) administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported side effects include nausea, vomiting, abdominal pain, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme® therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Symptoms suggestive of allergic reaction include anaphylactoid reaction (a serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Approximately 15% of patients have developed immune responses (antibodies); periodic monitoring by your physician is suggested. Patients should notify their physician immediately if they experience any side effects with treatment. Cerezyme is available by prescription only. For more information, consult your physician. To learn more, please see the full product information (PDF) or contact Genzyme at 1-800-745-4447.