Find out about your own medical history.
You can learn a lot of information from genetic testing and talking with family members.
NEXT: MEDICAL HISTORYPrevalence and impact
Some signs and symptoms
of Pompe disease
The symptoms of Pompe disease are common to many other diseases. If you or a family member are experiencing these symptoms, it may be useful to learn more about Pompe disease.
Muscle weakness and
loss of muscle tone
Fatigue
Breathing difficulties
How is Pompe disease passed down in families?
Families share the majority of their genes. To get Pompe disease, you have to inherit the Pompe disease-causing gene variant (alteration) from both parents. It is possible that your family members have Pompe disease even if they aren’t displaying any signs or symptoms. They can also be healthy carriers of the disease, which means they will not be affected by Pompe disease but may pass the Pompe gene variant on to their biological children.
Inheritance of Pompe disease
Creating Your Medical Family Tree
Tracing Pompe disease within your family, by creating a Medical Family Tree, can help you understand the inheritance pattern in your family and the risk of passing on this disease. This tool can also be used by healthcare professionals to accelerate a diagnosis. A geneticist, genetic counselor, or Sanofi Genzyme CareConnectPSS® Patient Education Liaison (PEL) can help you create a Medical Family Tree and consider a family discussion.
PSS=Personalized Support Services.
Pompe Disease Medical Family Tree Worksheet
Keep active, adapt, and overcome. Siblings definitely have to get checked…one, as a support system for each other and two, you just want to make sure that everyone’s taken care of.
~Siblings Sean & Cheryl, living with Pompe disease
WATCH SEAN & CHERYL
Let’s get personal
about Pompe disease
The progression of Pompe disease varies widely. Early diagnosis of affected family members can lead to earlier disease management. If you or your family members are interested in getting tested, a Sanofi Genzyme CareConnectPSS Patient Education Liaison (PEL) is ready with one-on-one assistance through a range of resources, programs, and other support offerings.
Speak with a Patient Education Liaison today.
CONNECT NOWPSS=Personalized Support Services.
