Horizons Issue 3 2011 - National Gaucher Foundation

Contents
The Genetic Connection ......... 4
In Your Corner
Patient Education Liaisons
and Genetic Counselors ......... 7
Seven Tests to Determine
the Best Treatment for
Gaucher Disease ............... 13
Talking to Siblings of Children
With Gaucher Disease Type 1 .... 15
Understanding the Progression
of Gaucher Disease Type 1 ...... 18
Foreword
When parents face the diagnosis of Gaucher disease type 1 in one of their
children, naturally their concerns become focused on the newly diagnosed
child. However, it’s just as important to discuss a child’s Gaucher disease
type 1 with his or her siblings, whether the diagnosis comes as a surprise or
whether it is already established by the time a sibling is born. Brothers and
sisters play a key role in understanding what it means to live with Gaucher
disease type 1 in the family. That’s why this issue contains an article devoted
to Talking to Siblings of Children With Gaucher Disease Type 1.
After all, Gaucher is a family disease, inherited from parents or grandparents.
Learn more about the Genetic Connection of Gaucher disease type 1 on page 4.
This article explains how the genetic mutation for Gaucher disease type 1 may
be passed from generation to generation, and how a Genetic Counselor or a
Patient Education Liaison may be able to help couples who are carriers or who
have Gaucher disease type 1, to understand the reproductive risks.
A Patient Education Liaison, not only helps educate couples and families so
they know who is at risk and to understand who could benefit from testing, but
he or she is committed to helping the entire family deal with Gaucher disease
type 1. This issue features the article, In Your Corner: Patient Education Liaisons
and Genetic Counselors. These Counselors are often the first people to
explain what a Gaucher disease type 1 diagnosis can mean, in very real terms.
They are the initial educators, helping patients with Gaucher disease type 1 to
understand how the disease progresses and what tests may be involved.
Articles in this issue’s Horizons will also help readers to understand the
progression of Gaucher disease type 1; and to learn about the many tests
that assess the status of the disease, evaluate the effectiveness of an
existing treatment plan, or determine the important next steps in therapy. An
educated patient helps to shape his or her own horizon.
As with every issue of Horizons, we would love to hear your comments
and feedback, so don’t hesitate to send us a note. We look forward to hearing
from you.
—Your team at Genzyme
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.
Please see accompanying full Prescribing Information on pages 11-12.
Patients are encouraged to report negative side effects of prescription drugs to the FDA. Visit FDA.gov/medwatch, or call 1-800-FDA-1088.
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 3