1. health and fitness
2. disease

Volume 14, Number 1
Early Diagnosis is Key to
Enhancing Success of Type 1
Gaucher Disease Treatment
By Dr. Joel A. Weinthal
Also in this Issue:
Ask the Expert:
Dr. Neal Weinreb Answers Patient’s Questions
Understanding Clinical Trials and the
Safety and Efficacy of Treatment
Talking about Type 1 Gaucher Disease
Pen Pal Program
Fun Activities
www.gauchercare.com
www.cerezyme.com
Early Diagnosis is Key to
Enhancing Success of Type 1
Gaucher Disease Treatment
Volume 14, Number 1
Publishing Note
In this issue of Horizons, we introduce
two new columns, including “Ask the
Expert” and “Horizons for Kids.” Both
of these columns aim to provide valuable information to members of the
Gaucher community. Dr. Neal Weinreb
kicks off this month’s “Ask the Expert”
column by answering some basic questions often asked by Gaucher patients
and family members. In Horizons for
Kids, we highlight the Genzyme Pen
Pal Program, which connects patients
and encourages them to communicate
with each other about their lives and
interests. The program currently has 20
children, each of whom has been paired
with another child in the program.
Also in this issue, Dr. Joel A.
Weinthal of Dallas Texas, discusses
the importance of early diagnosis of
Gaucher disease and understanding
the risk factors associated with this
disease. In this issue, we include a business reply card and encourage you
to let us know what you think of the
articles contained in this issue and/or
any questions you may have for our
“Ask the Expert” column, which we
will include in future issues. Your feedback will assist us in developing future
articles and further develop Horizons.
– Your team at Genzyme
c o ntents
Early Diagnosis is Key to
Enhancing Success of Type 1
Gaucher Disease Treatment . . . 2
Ask the Expert . . . . . . . . . . . . . 4
Understanding Clinical Trials . . 5
Talking About Type 1
Gaucher Disease . . . . . . . . . . . . 6
Fun Activities for Children . . . . 7
Pen Pal Program . . . . . . . . . . . . 8
Joel A. Weinthal, MD
Texas Cancer Center at Medical City, Dallas, Texas
T
he importance of early diagnosis
similar to those of other common condiin Gaucher disease can not be
tions. As a result, it can often take a long
overstated. The sooner that the
period of time for a Gaucher disease
disease is diagnosed, the sooner appropatient to obtain the right diagnosis.
priate treatment can begin. Because
Joint pain, for example, may be diagGaucher disease is progressive in nature,
nosed as arthritis. Low platelet counts
that is, it can get worse as time goes
may be attributed to an underlying
by, symptoms can continue to increase
blood disorder.
in severity if the disease
Confusion about symptoms
remains untreated.
can be made worse when
Gaucher disease is
patients (and sometimes
an inherited genetic
even physicians) are lulled
condition. It is the most
into a lack of urgency. This
common member of a
can happen because Gaucher
group of diseases known
symptoms, in their initial
as lysosomal storage
presentation, can often seem
disorders (LSDs). LSDs
mild and harmless. In such
are chronic, progresinstances, it will likely take
sive, debilitating, and
an extended period of time
often life-threatening.
for patients and physicians to
All LSDs have one thing
realize that they are dealing
Joel A. Weinthal, MD
in common: specific lysowith a potentially serious and
somal enzymes do not
progressive disease.
work correctly or the patients do not
For one reason or another, then, the
produce enough enzyme.
interval between an individual experiLike other LSDs, Gaucher disease is
encing Gaucher disease symptoms and
caused by a genetic abnormality that
obtaining an accurate diagnosis can be
results in an enzyme deficiency. Human
a long one. This is a concern because
bodies contain thousands of active
the longer a person has Gaucher
substances called enzymes that perform
disease without treatment, symptoms
numerous important functions, many
can get worse and progress to the
of which are essential to health and
point that they become irreversible.
well-being. A patient with Gaucher
Detecting the Presence of
disease possesses an inadequate supply
Gaucher Disease
of glucocerebrosidase, an enzyme that
An accurate, definite Gaucher disease
breaks down a certain type of fat molediagnosis can be attained with a blood
cule called glucocerebroside. As a result,
test that measures glucocerebrosidase
specialized compartments within the cell
enzyme activity. The blood sample can be
that contain enzyme, called lysosomes,
taken in the physician’s office, but may
fill up with undigested fat. These cells
need to be sent elsewhere for analysis.
are referred to as Gaucher cells.
In healthy individuals, this test will show
Accurate Diagnosis Can Be A
white blood cells that contain normal
Challenge
enzyme activity; in individuals with
Gaucher disease can cause a wide variety
Gaucher disease, enzyme activity is much
lower. Alternatively, the physician may
of symptoms. A number of the symptoms
obtain a skin sample, as certain skin cells
associated with Gaucher disease are
2
Please see accompanying full product information for
Cerezyme and important safety information on page 3.
can be used to measure glucocerebrosidase activity levels.
Additionally, close family members of an
individual with Gaucher disease should be
considered for testing in order to determine if they are carriers (individuals who
could pass on Gaucher disease to future
generations).
Once a diagnosis of Gaucher disease
has been established, a physician may
also recommend additional tests to establish the severity and progression of the
disease. Comprehensive Gaucher disease
treatment centers provide specialized
diagnostic and counseling services for
patients suspected of having Gaucher
disease. Patients should talk to their physicians about the benefits of going to a
Gaucher treatment center. The website
gauchercare.com features a resource
that enables patients to locate nearby
Gaucher treatment centers and professionals who specialize in the care of the
disease. To access this resource, visit the
Diagnostic and Treatment Center Locator
in the Resources and Support section of
the gauchercare.com website, located at
www.gauchercare.com.
Risk Factors
One way to increase the likelihood of
early diagnosis is to understand who is at
risk for inheriting Gaucher disease.
Experts strongly recommend talking
with other family members in order to
compile a family history that lists family
members who have had the disease, so
that families with a hereditary predisposition to Gaucher disease can be alerted to
their potential level of risk and be tested
for the disease.
Since Gaucher disease is an inherited
condition caused by genes passed down
from an individual’s parents, family history
is the primary risk factor for the disease.
When one person in a family has the
disease, others may also be at risk.
To have Gaucher disease, an individual
must inherit two copies of the Gaucher
gene – one from his or her mother and one
from his or her father. People who have
only one copy of the Gaucher gene are
carriers. Carriers do not display Gaucher
disease symptoms but can pass the Gaucher
gene on to their children. If, for example, a
mother and father are both Gaucher gene
carriers, and both pass the Gaucher gene
on to their child, the child would then have
Gaucher disease.
Ethnic background is also a significant
risk factor. Although Gaucher disease can
and does occur in individuals of all races
and ethnicities, type 1 Gaucher disease (by
far the most common form of the condition, accounting for 95% of all cases) is
especially prevalent among Jewish people
of Ashkenazi (Eastern European) descent.
Type 1 Gaucher disease occurs in about one
out of every 850 live births to Jewish families of Ashkenazi descent. It is estimated
that one out of every 40,000 to 60,000
people in the general population has type
1 Gaucher disease.
Gaucher disease is not gender or agespecific. Its signs and symptoms may
appear in affected individuals at any age
(although the rarer forms of the disease
– type 2 and type 3 – are most commonly
diagnosed in childhood).
The following list contains several
common symptoms of type 1 Gaucher
disease:
• Bone and/or joint pain
• Avoidance of physical activities due to
bone pain and/or fatigue
• Having the feeling of a “full stomach”
after eating only small portions of food
• Distended abdomen due to enlarged
liver or spleen
• F atigue and need of frequent naps
or rest
• Anemia and pallor
• Easy bleeding that is difficult to stop
• Bruising easily
• Easily fractured bones
If you experience some of these symptoms, it may be important to notify your
physician or health care provider.
The Role of the Patient
An active approach on the part of the
patient is one of the best means to ensure
early diagnosis and optimum treatment
and management of Gaucher disease.
Diagnosis and treatment of type 1 Gaucher
disease is the shared responsibility of the
patient and physician.
If a diagnosis of type 1 Gaucher disease
is confirmed, and particularly after treatment is initiated, patients should remain
involved in their own care. The more
educated and aware a patient is, the
better that patient is positioned to be an
effective partner in that care.
The good news is that type 1 Gaucher
disease is manageable. Enzyme replacement therapy can control and reverse
many of the signs and symptoms of type
1 Gaucher disease. Doctors can clearly
explain both the effects of type 1 Gaucher
disease and how treatment may help.
Patients should understand the signs and
symptoms of their disease so they will
know when to seek help.
Staying involved in one’s own treatment
is an important part of staying well. It is also
important to have specific goals and targets
that will help both the patient and physician
know how well the treatment is working.
All patients need to see their physicians on
a regular basis and undergo regular `checkups.’ Patients should have a full battery of
monitoring tests at least once a year.
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, thrombocytopenia, bone disease, hepatomegaly, splenomegaly.
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. For more information, consult your physician. To learn more,
please see full product information; contact Genzyme at 800-745-4447, or visit www.cerezyme.com. Cerezyme is available by prescription only.
Patients are encouraged to report negative side effects of prescription drugs to the FDA. Visit FDA.gov/medwatch, or call 1-800-FDA-1088.
3
Ask the Expert
In this month’s column, Neal Weinreb, MD answers patients’ questions about Gaucher disease.
If you have a question that you would like answered by a Gaucher disease expert, please fill
out the enclosed business reply card and return it to the publishers of Horizons. Each issue, we
will try to answer as many questions from our readers that we can.
N
eal J. Weinreb, MD, FACP is a graduate of Brooklyn College, the Jewish
Theological Seminary, and Downstate
Medical Center. After a residency in Internal
Medicine at Albert Einstein College of Medicine
and a fellowship and faculty position at Mt.
Sinai School of Medicine, NY, he opened a
private practice of Hematology and Medical
Oncology in West Broward County, Florida,
where he continues practicing hematology and
oncology today. He has published many articles
in various medical and scientific journals.
Dr. Weinreb became interested in Gaucher
disease more than 30 years ago when he was
chosen as a Research Associate by Dr. Roscoe
Brady at the National Institutes of Health. Dr.
Brady is responsible for discovering the cause of
Gaucher disease as a deficiency of the enzyme,
glucocerebrosidase, and for pioneering the
concept of enzyme replacement therapy. Dr.
Weinreb has concentrated on treating patients
with Gaucher disease and on clinical research
aimed at optimizing treatment. Dr. Weinreb is
an active participant in the Gaucher Registry
and frequently lectures about Gaucher disease
to physicians and patients.
Q
: Why is it important not to
miss my scheduled infusions?
Dr. Weinreb: Some adult patients with generally mild pretreatment type 1 Gaucher disease
symptoms and who have achieved all therapeutic goals appear to tolerate drug interruptions of even several months without obvious
evidence of recurrence of symptoms. However,
some patients’ symptoms—especially children
and teenagers—progress rapidly after missing
several doses of treatment. As a general rule,
physicians believe that patients who receive
regularly scheduled infusions of Cerezyme®
(imiglucerase for injection) will reduce the
amount of glucocerebroside that accumulates
in the body and effectively ease many of the
signs and symptoms of their disease.
Many questions remain about type 1
Gaucher disease and its appearance in patients.
For example, why do some people become
sick during childhood or young adulthood
while others show no symptoms until much
later in life? People with Gaucher disease are
deficient in the enzyme glucocerebrosidase,
which is responsible for breaking down the fat
molecule, glucocerebroside. When administered
to patients, Cerezyme (a form of glucocerebro-
sidase manufactured through biotechnology)
breaks down these fat molecules. If the therapy
is stopped, these fat molecules may once again
build up, creating more Gaucher cells and a
recurrence of signs and symptoms.
For patients receiving Cerezyme treatment
regularly every two weeks, missing an occasional single dose is probably not consequential.
However, in light of the reappearance of symptoms reported in some patients, longer treatment interruptions, sometimes called “Cerezyme
holidays,” may present problems for patients.
Patients should speak to their doctors about
potential interruption of treatment.
Q
: I am not of Ashkenazi Jewish
descent but was recently diagnosed with Gaucher disease. Is this
common?
Dr. Weinreb: Gaucher disease occurs in all
ethnicities all over the world. Currently, more
than 5,100 patients in 60 countries participate in
the the Gaucher Registry. Whereas the majority
of these patients are not of Ashkenazi Jewish
descent, it is true that type 1 Gaucher disease is
more common among people who trace their
ancestry to Jewish communities in Northern,
Central, and Eastern Europe.
In the general world population, the incidence of type 1 Gaucher disease has been
estimated at approximately 1 per 57,000
live births. Thus, of the approximately four
million American babies born last year, probably 50–100 have Gaucher disease, most of
whom are not Jewish. Even more interesting,
in a recent study in a non-Jewish population where Gaucher mutations were carefully
sought by sequencing the entire glucocerebrosidase gene, the number of mutations
was higher (about 1/50) than expected
from previous studies. If this observation is
confirmed, there may be even more nonJewish people with Gaucher disease than we
currently suspect.
Q
: I have Gaucher disease and
my husband and I would like to
have children. What are the chances
my child will have the disease? Is
any prenatal testing available?
Dr. Weinreb: Because Gaucher disease is an
inherited disorder, children of parents with
Gaucher disease are at risk of having the
4
Please see accompanying full product information for
Cerezyme and important safety information on page 3.
disease or of being potential carriers of
the “Gaucher gene.” Mutations in the
glucocerebrosidase gene (GBA) cause an
insufficient level of glucocerebrosidase,
resulting in the signs and symptoms of
Gaucher disease. If a woman has Gaucher
disease, she will have an abnormal GBA. If
she conceives, her baby may have Gaucher
disease depending on whether the father
has GBA mutations as well. If not, the baby
will have one abnormal GBA gene (from
the mother) and one normal gene (from
the father) and thus will be a carrier for
Gaucher disease. Although having one
normal GBA gene is enough to prevent the
clinical manifestations of Gaucher disease,
the mutated gene may be passed on to
future generations.
If both parents are carriers, there is a
one in four chance with each pregnancy
of having a child affected with Gaucher
disease (see Figure on page 4). Prenatal
testing, including gene testing and enzyme
analysis, can in most cases determine the
presence or absence of Gaucher disease in a
pregnancy.
In addition to being tested for the disease,
it is also important for family members to
have further testing (DNA mutation testing)
to determine the particular gene mutations
that are present. Knowing the mutations
or genotype makes carrier testing for other
family members easier, and in rare cases, the
genotype may clarify the type of Gaucher
disease in the family. Certain mutations in
combination can be matters of significance in
family planning.
It is virtually impossible to predict the clinical outcome for most babies with a prenatal
diagnosis of Gaucher disease, but patients
and their families can talk to their physicians and genetic counselors for additional
information. It is important to know that
most people with Gaucher disease can enjoy
lengthy, productive, and fulfilling lives.
Understanding Clinical Trials
Making sure the products you use are safe and effective even after they are approved.
T
he success of the U.S. health care system
relies heavily on providing the right care
at the right time to the right patient.
This can only be accomplished if physicians have
a clear understanding of how well a medicine
fights disease (its efficacy or effectiveness) and
what other effects it may have on a patient (its
potential side effects or safety profile). The
way in which this vital information is obtained
is by performing research in the form of a
clinical trial.
According to the Food and Drug
Administration’s (FDA’s) website, “A clinical
trial is a research study in human volunteers to answer specific health questions.”
Basically, clinical trials demonstrate that a
given outcome or set of outcomes is not the
result of chance. As the FDA’s website states,
“Clinical trials are conducted according to a
plan called a protocol. The protocol describes
what types of patients may enter the study,
schedules of tests and procedures, drugs,
dosages, and length of study, as well as the
outcomes that will be measured. Each person
participating in the study must agree to the
rules set out by the protocol.”
The process through which participants
learn about and agree to the clinical trial
protocol is known as informed consent.
The FDA requires that potential clinical
trial subjects be given complete information,
in writing, about the study in which they
are participating. The FDA website explains,
“The informed consent process provides an
opportunity for the researcher and patient
to exchange information and ask questions.
Patients invited to enter a trial are not obligated to join, but can consent to participate
if they find the potential risks and benefits
acceptable. A consent form must be signed by
the participant prior to enrollment and before
any study procedures can be performed.”
Participants also have the right to leave a
study at any time. At the same time, people
need to know that circumstances may arise
(i.e., significant change in participant health
status, failure of the overall trial in which
the participant is taking part) in which their
participation may be terminated by the
researcher. In any case, the circumstances
must be described in the consent document.
The FDA has specific rules regarding disclosure requirements to clinical trial participants.
These rules have been posted on the FDA’s
website. They include stipulations mandating
participants be told:
•W
hen the study involves research of an
unproven drug, biologic (such as a vaccine,
blood product, or gene therapy) or device
• The purpose of the research
•H
ow long the participant will be expected
to participate in the study
•W
hat will happen in the study and which
parts of the study are experimental
• Possible risks or discomforts to the participant
•P
ossible benefits to the participant
• Other procedures or treatments that
might be advantageous to the participant
instead of the treatment being studied
•T
hat the FDA may look at study records,
but the records will be kept confidential
• Whether any compensation and medical
treatments, if any, are available if the
participant is injured, what those treatments are, where they can be found, and
who will pay for the treatment
•T
he person to contact with questions
about the study, participants’ rights, or if
the participant gets hurt
• That participation is voluntary and the
participant can quit the study at any time
without penalty or loss of benefits to
which the participant is otherwise entitled.
5
Most Patients Remain Unaware of
the Vital Function Clinical Trials Serve
Once clinical trial data is collected and
analyzed by the drug or medical device
company, the FDA reviews the data and
makes a determination as to whether the
product is safe and effective for its
intended use.
The clinical trial process is intended to
obtain as much information as possible about how a drug works, whether it works
for different types of patients, and whether
it will prove safe and efficacious when used
in the general population - before a drug is
brought to market. Clinical trials are used
to determine everything from what is the
appropriate dose of a drug, how it achieves
its positive effect, to whether it may help
other, different disorders.
Yet, most people know little about the
medical research system, what types of clinical trials exist, and how they help contribute
to medical knowledge.
The Phases of Clinical Trials
In clinical trials, one group of patients is
given an active drug in an effort to determine what effect the drug will have on
their disorder. A similar group of patients
may be given a “placebo” or inactive
substance that scientists assume does not
affect the disease. The progress of these
two groups of patients is compared to
determine whether the drug under study
is effective. The size of the patient groups
can vary considerably.
Clinical trials are usually classified into
one of four phases, which are typically
done in the following logical order. These
occur after completion of tests of the drug
in preclinical research (i.e., laboratory or
Continued on next page.
Please see accompanying full product information for
Cerezyme and important safety information on page 3.
animal studies) to gain information about its
safety for human administration:
Phase I: Researchers testing an experimental
treatment must first administer the product
in a small group of patients or healthy people
(usually 20–80)* to determine whether it is
safe for human administration, what the safe
dosage range may be, and to observe the
appearance of any side effects
Phase II: In a Phase II trial, a larger number
of patients (100–300)* are assigned to
receive either the active drug or a placebo,
to determine whether the drug is effective in treating the intended disease and
to further evaluate its safety in actual
patients.
Phase III: The Phase III trial typically includes
large patient groups (sometimes in the
thousands)*, and includes active drug and
placebo groups, or even other patients
who receive standard therapy to treat the
disorder in question. These studies are
critical in allowing the FDA to truly gauge
the effectiveness and safety of the drug and
may be the main evidence used by regulators in making their decision to approve the
drug for use. This is often the final phase
that seeks to confirm safety and efficacy for
product approval.
Phase IV: Known as a postmarketing trial,
Phase IV investigations are often conducted by
companies after the FDA approves a medication
for use, to allow physicians, researchers, and
regulators to observe its long-term effectiveness, monitor for side effects, and compare its
results with other commonly used treatments.
Phase IV investigations may also be required by
the FDA to gather more information on drug
safety, optimal use, or use in different patient
populations such as children or the elderly.
* It is important to keep in mind that the
participant numbers cited may be reduced,
sometimes quite significantly, in product
candidates being studied for use in the
treatment of rare diseases. This reduction
is due to the limited number of patients
in the general population who have the
disease and can serve as trial participants.
A more recent approach to tracking
patients is a type of Phase IV study called a
disease registry—patients may voluntarily
register to take part in a long-term evaluation, which may include periodic monitoring
of the patient’s health and the completion
of surveys about health status and quality of
life. Although it should be noted that many
patient registries are not structured to provide
clinical trial data, a patient registry allows
researchers to follow the progress of patients
taking medications over long periods of time.
The Gaucher Registry, sponsored by Genzyme,
is the world’s largest cooperative observational
study on Gaucher disease. The International
Collaborative Gaucher Group (ICGG) established
the Registry in 1991 as a database tracking
outcomes of routine clinical practice. Over 5,000
patients have enrolled in the Registry, which is
open to all Gaucher patients worldwide, irrespective of treatment status.
Through the Gaucher Registry, healthcare providers can share clinical information
about Gaucher disease. This may ultimately
contribute to earlier diagnosis, earlier intervention, and better disease management for
people living with Gaucher disease. In addition to helping understand the natural history
progression of Gaucher disease, the Gaucher
Registry is designed to:
• s tudy trends and address specific questions
about Gaucher disease
• provide the Gaucher medical community
with information about the Gaucher
disease population around the world
• help physicians evaluate the long-term
effects of treatment
Visit www.gaucherregistry.com to learn
more about the Gaucher registry. If you would
like more information on clinical trials, visit
www.clinicaltrials.gov.
Talking about Type 1 Gaucher Disease
Learning about the disease, its causes, symptoms, and treatment
I
f you or someone you know has
Gaucher disease, it’s important to
understand the illness.
Gaucher disease is a chronic, progressive,
inherited genetic disorder that occurs in
children and adults, both male and female.
People with Gaucher disease lack sufficient
levels of a particular enzyme. As a result of
this enzyme deficiency, a fatty material, or
lipid, accumulates in the body. Lipid accumulation in organs and bones can cause
mild to severe symptoms that can appear
at any time throughout life. The enzyme
that is not working well in Gaucher disease
is called glucocerebrosidase (pronounced
gloo-ko-ser-e-bro-si-dase). This enzyme
helps the body break down glucocerebroside (gloo-ko-ser-e-bro-side), a fatty
substance stored inside the lysosome, or
tiny sac-like structure, of certain cells. With
insufficient enzyme activity, glucocerebroside accumulates inside the lysosome and
causes the cell to become bloated. Cells
that have accumulated a lot of glucocerebroside are called Gaucher cells.
Patients with Gaucher disease can feel
very tired, bleed and bruise easily, and
have a ‘big belly’ because of their enlarged
liver and spleen. They may also have bone
and joint pain and their bones may break
more easily.
The symptoms of Gaucher disease can
continue to get worse if left untreated. To
see if someone has the disease, a doctor
will do a blood test to measure the glucocerebrosidase enzyme activity. If it is determined that the person has type 1 Gaucher
disease, doctors may begin treatment with
a medicine called Cerezyme® (imiglucerase
for injection) through infusion therapy. This
drug can reduce or reverse many of the
signs and symptoms of the disease (please
see accompanying full Product Information).
Since Gaucher disease is a genetic disorder,
it is important to understand that treatment
with Cerezyme will not cure it. Even though
6
patients may feel better after receiving
treatment, they should continue to receive
regular infusions. If a person with Gaucher
disease stops treatment, Gaucher cells may
build up again and symptoms can return.
It can be devastating to learn that
you or a loved one has this potentially
life-threatening illness, but a great
many health care professionals, medical
organizations, hospitals, and patientsupport organizations are available to
assist persons newly diagnosed with
Gaucher disease.
There is a great amount of information
available on Gaucher disease care and
research. In addition to one’s own personal
physician, some helpful websites include
www.gauchercare.com, www.childrens
gaucher.org, www.gaucherregistry.com.
With this information, patients and their
families can better understand the disease,
learn to cope with and manage it, and lead
full productive lives.
Please see accompanying full product information for
Cerezyme and important safety information on page 3.
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Y
T
H
L
A
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P
WORDS TO FIND
ANIMAL
ANSWER
BOY
CAT
DOCTOR FAMILY
FRIENDS
GAUCHER
GIRL
GRANDPARENT
HOLIDAY
HORIZONS
HOSPITAL
PENPAL
SCHOOL
TEACHER
Word Scramble
Maze Escape
Unscramble each of the clue words.
Copy the letters in the numbered cells to other
cells with the same number.
Can you help the dog escape from of the maze?
ozmo
5
holcos
8
6
nuf
7
gamieni
4
pyahp
1
bootr
3
1
2
2
3
4
5
6
7
8
7
You’ve Got a Friend
The Genzyme Pen Pal Program
I
t always helps to have a friend. For
children with a chronic illness, such as
type 1 Gaucher disease, being able to
talk with someone who is experiencing
the same challenges is priceless. For children and young adults afflicted with type
1 Gaucher disease, the Genzyme Pen Pal
program provides a means of bringing
them together and offering a sense of
community.
According to Jennifer Pettengill, MSW,
Genzyme Treatment Support, “The program
was relaunched in 2006. Currently, we
have about 20 children involved who have
expressed interest and have been paired
with another child within the program. We
encourage children to write via regular mail,
but also to exchange email addresses, if they
prefer to correspond that way. Overall, we
see the program as a great
success and hope it
continues to grow.”
Those who are
learning to deal with
the symptoms of type 1
Gaucher disease and the
ongoing treatment may
sometimes feel like the
disease is a large burden.
The Genzyme Pen Pal
program offers a way for
children to communicate
with each other discuss their
illness and gain peer support
and understanding. Pen
Pal participants can ask questions, talk with
someone experiencing the same difficulties,
and perhaps make a difference that positively
affects someone else’s life.
Children and young adults with Gaucher
disease can talk with others about how
Word Scramble
Answer Key
Maze Escape Answer Key
they manage pain and deal with fatigue
or the emotional, social, and personalimage challenges (such as being smaller
in stature or having a ‘big belly’). Pen pals
who exchange their ideas and solutions
can share their hopes, face their fears,
and potentially alleviate stress and worry
that could surface at any time. And while
being able to talk about their disease
with others who are affected is one
of the benefits, some children in
the Pen Pal program choose not to
discuss Gaucher disease at all. These
children discuss their other interests,
such as cheerleading, skateboarding,
music, and many other things that kids
are interested in.
Those between the ages of five and 17
with type 1 Gaucher disease are eligible to
participate in the Genzyme Pen
Pal program. After completing
a brief questionnaire, they will
then be matched with those of
similar ages and common interests. None of the information
will be shared with anyone not
directly involved in the Pen Pal
program without permission.
To join the Genzyme
Pen Pal program, download and complete the
Pen Pal Questionnaire and
Permission Slip at www.
cerezyme.com/patient/
living/cz_penpal_persmission.
pdf and mail it to Jennifer Pettengill, MSW,
Genzyme Treatment Support, 500 Kendall
Street, Cambridge, MA 02142. Participants
will receive a Pen Pal start-up kit in approximately three weeks. Information is also available by calling (800) 745-4447, ext. 16647.
The Story
of Gigi
The story of Gigi is
about a little girl with
type 1 Gaucher disease.
It is intended to assist
parents or guardians
explain type
1 Gaucher
disease and
treatment
to their
child.
By hearing
or reading
about Gigi,
your child
may learn
about the disease,
its causes and
symptoms, and
treatment with
Cerezyme® (imiglucerase
for injection).
To request a copy of
Gigi’s story, please go to
www.Cerezyme.com.
Word Search Answer Key
(Top to bottom)
zoom, school, fun,
imagine, happy,
robot
✁
Secret Word:
Horizons
CZ-US-P016-04-08
Please provide a question for our “Ask the Expert” column.
Please provide any comments you have on this issue or topics you’d like to
see Horizons cover in future issues.
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If so, please fill in the following:
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