“I steadily
became severely
underweight...
it was obvious something was wrong.”
-Hillary
Information and patient stories
to help with your questions
What you need to
know about Pompe disease
We want to help you get the answers you need about Pompe
disease. This brochure includes details about the disease, as well as
additional online resources for you.
Pompe (pronounced pom-PAY) disease is rare: only about 1 in
40,000 people have the disease. While it occurs quickly in newborns,
it can slowly develop in adults as well. Pompe disease makes it hard
for some muscles in the body to work as they should.
Signs and symptoms in adults
When Pompe disease happens in adults, it can start as muscle
weakness. It happens because the body is missing a key enzyme
that helps certain muscle cells break down sugar (glycogen).
Pompe patients may have:
• Weakness in their hips, legs, and shoulders
• Trouble climbing stairs
• Shortness of breath
Visit www.pompe.com to learn more
about Pompe disease. And always
remember to talk to your doctor.
Q&A
What if I’ve already talked to my doctor?
If you have symptoms like these, please talk to your doctor. Even if you are
already being treated for another illness, discuss your symptoms again.
Pompe disease can sometimes seem like other more common illnesses,
such as muscular dystrophy, general myopathy, and even sleep disorders.
“I live a
very
full life,
and Pompe disease is
part of it. But Pompe disease
doesn’t define my life.”
Brian
Age 52
As early as 6 years old, Brian remembers struggling to keep up on the playground and then
suffering from weakness and back pain before being diagnosed with Pompe disease.
What causes
Pompe disease?
Pompe disease is a genetic disease passed down from your
parents. It occurs because the body has trouble breaking
down glycogen.
When glycogen is not processed normally, it can build up
in muscle cells. When this happens over time, muscles stop
working correctly. As a result, it can become difficult to
walk due to weakness in the hips and legs. It can also cause
shortness of breath due to trouble with muscles that help us
breathe.
Pompe disease is manageable
The good news is that doctors have answers for Pompe
disease. The disease can be managed. The earlier
patients are diagnosed, the sooner disease management
can begin.
Visit www.pompe.com to learn more
about Pompe disease. And always
remember to talk to your doctor.
Q&A
Where can I learn more?
You can learn more about Pompe disease at www.pompe.com.
This online resource includes more details about the disease, as well as
additional signs and symptoms.
“I had to
advocate for
myself... When I got
the diagnosis, I felt relieved
that it wasn’t all in my head.”
Allison
Age 26
In her early 20s, Allison started having difficulty breathing, especially at night
when lying down to sleep, and would frequently wake up gasping for air.
You have options
There are reliable and accurate testing options for Pompe
disease. The sooner patients can be diagnosed, the more help
doctors are able to provide.
You are not alone
If you have more questions and concerns about Pompe disease,
help is available. The patients featured in this brochure once
had questions about their health. After they were diagnosed
with Pompe disease, they were able to develop a disease
management plan with their healthcare providers.
Neurologists and neuromuscular specialists are particularly
focused on Pompe disease. They work with teams of
professionals who help diagnose the disease. If you are
experiencing symptoms, the important thing to remember is
you are not alone. Discuss your symptoms with your doctor
so that you may be referred to specialists who regularly work
with Pompe disease.
Visit www.pompe.com to learn more
about Pompe disease. And always
remember to talk to your doctor.
Q&A
What else can I do?
When you visit www.pompe.com, you’ll also see information about
Genzyme Support Services. Through this program, Genzyme is committed
to help those who are diagnosed with Pompe disease. The program includes
medical information, advocacy, treatment support, and more. There are
doctors who specialize in Pompe disease and we encourage you to discuss
next steps with your doctor if you are experiencing any symptoms.
“Even though Pompe has taken
away muscle strength from me,
it can’t
take away
my internal
strength.”
Dianna
Age 53
Diagnosed in her 20s, Dianna suffered for years from a limp and underdeveloped hips before
a blood test confirmed she has Pompe disease.
Hillary
Age 38
Hillary was suspected of having limb girdle muscular dystrophy (LGMD). Eventually,
a neuromuscular specialist helped diagnose her Pompe disease.
The good news is Pompe
disease is manageable.
If you would like more information about Pompe
disease, please visit www.pompe.com.
This website also includes personal perspectives and
video testimonials from actual patients with Pompe disease. It is
dedicated to raising Pompe awareness and helping patients
find medical information, additional resources, and even
advocacy support.
And, as with any health questions you may have, we
encourage you to speak with your doctor.
References: 1. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid a-glucosidase (acid maltose) deficiency. In: Scriver CR, Beaudet AL, Valle D, Sly
WS, eds. The Metabolic & Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill;2001:3389-3420. 2. American Association of Neuromuscular
& Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40(1):149-160. 3. Kishnani PS, Steiner
RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-288. 4. Raben N, Ralston E, Chien Y-H, et al. Differences in
the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy. Mol Genet Metab.
2010;101(4):324-331. 5. Preisler N, Lukacs Z, Vinge L, et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab.
2013;110(3):287-289. 6. Fukuda T, Ahearn M, Roberts A, et al. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther.
2006;14(6):831-839. 7. Chien Y-H, Lee N-C, Huang H-J, Thurberg BL, Tsai F-J, Hwu W-L. Later-onset Pompe disease: early detection and early treatment initiation
enabled by newborn screening. J Pediatr. 2011;158(6):1023-1027. 8. Cupler EJ, Berger KI, Leshner RT, et al; AANEM Consensus Committee on Late-onset Pompe
Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45(3):319-333.
A rare commitment to the Pompe community
For over 30 years, Genzyme has pioneered the development and delivery of
patient-centric programs and services for individuals affected by rare and debilitating
diseases. With a focus on rare diseases and multiple sclerosis, we are dedicated to
making a positive impact on the lives of the patients and families we serve.
©2014 Genzyme Corporation, a Sanofi company. All rights reserved. POMP-US-P651-05-14
www.pompe.com