Horizons Issue 3 2011 - National Gaucher Foundation

The answers can help the medical team discuss the
impact of the disease with patients and suggest strategies
to help them cope.
It’s always helpful to make a list of questions
to discuss with the doctor in preparation for the
next visit.
For instance, questions patients might want to ask
their doctors about their blood test results are:
• How are these results different from past results
• What do these results mean for my treatment
• How often will I need follow-up blood tests
When patients become partners with their medical
team in the treatment of Gaucher disease,
everyone wins.
References
1. Goker-Alpan, O. Therapeutic approaches to bone pathology
in Gaucher disease: Past, present and future. Mol Genet
Metab. 2011;104(4):438-447.
2. Pastores GM, Hughes DA. Gaucher disease, in: Pagon
RA, Bird TD, Dolan CR, Stephens K, editors.GeneReviews
[Internet]. Seattle (WA): University of Washington, Seattle;
1993-2000 Jul 27 [updated 2011 Jul 21]. Accessed December
15, 2011.
3. New York Times Health Guide: Gaucher Disease. Exams and
tests. http://health.nytimes.com/health/guides/disease/gaucherdisease/overview.html.
Accessed December 15, 2011.
4. Maas M, Poll LW, Terk MR. Imaging and quantifying
skeletal involvement in Gaucher disease. Br J Radiol.
2002;75 Suppl 1:A13-24.
A Patient Who Put the “T” in Team
Colleen Keegan was diagnosed with Gaucher disease in 1962, when she was
14 years old. At the time, there were few treatments and little was known
about the disorder. Her disease progressively worsened, and by the time
Colleen reached her early 40s, it had taken a toll on her overall health.
“My hemoglobin level was at 6 and my platelet count was at 6000,” she
said. Her condition became so critical that she had to undergo regular blood
transfusions. “I could barely walk,” she recalled.
In October 1990, she read an article in her local newspaper about an
experimental medication being tested as a treatment for Gaucher disease type
1. “Because I came across that article and learned about a drug that was an
earlier version of Cerezyme, Ceredase ® (alglucerase for injection), I believe my
life has improved so dramatically,” she said.
Colleen showed the newspaper article to her doctor and to her hematologist.
They agreed the new therapy was “very exciting,” but said because it was
considered experimental and would be difficult to initiate. Colleen did not give
up. She tried to get accepted for a trial but was rejected because she had had
her spleen removed earlier.
Several months later, Colleen read that the US Food and Drug Administration
had approved the medication. Through her physicians, she contacted Genzyme
about starting regular treatment. A Genzyme representative and Colleen’s
physicians worked together to secure coverage for the treatment from her
insurance provider. Colleen’s condition responded to the new treatment.
“I felt I had energy for the first time,” she said after treatment.
Teaming up with her physician, her hematologist, and Genzyme enabled Colleen
to get the treatment she needed to combat Gaucher disease type 1. Speaking
up about their own health is the most powerful tool that patients have in
confronting illness head on — and winning.
Indications and Usage
Cerezyme ® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with
a confirmed diagnosis of type 1 Gaucher disease that results in one or more of the following conditions: anemia (low red blood cell
count), thrombocytopenia (low blood platelet count), bone disease, hepatomegaly or splenomegaly (enlarged liver or spleen).
Important Safety Information
Approximately 15% of patients have developed immune responses (antibodies). These patients have a higher risk of an allergic
reaction (hypersensitivity). Use Cerezyme ® (imiglucerase for injection) carefully if you have had an allergic reaction to the
product in the past. Symptoms suggestive of allergic reaction happen in 6.6% of patients, and 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. Side effects related
to Cerezyme 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, abdominal pain, vomiting, 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. Cerezyme is
available by prescription only. For more information, consult your physician. To learn more, please see the enclosed full product
information or contact Genzyme at 1-800-745-4447 (option 2).
Please see accompanying full Prescribing Information on pages 11-12.
14 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.