What We Do
We help spread awareness of Pompe Disease and help raise funds for research for a cure to Pompe Disease!
We support Dr. Kishnani and her research for a Pompe Disease cure at Duke Children's Hospital, and continue to be a place for all those affected by Pompe Disease to futher tell their story.
Humanizing A Diagnosis
The unfortunate truth behind this genetic disease is it does not care what age, race, or creed the patient is, and finding a cure is something we all universally agree on.
What connects all of us to the patients and their families fighting this disease are their stories of strength, perseverance, and love – click the image to learn more about some of their stories.
Pompe Disease can be diagnosed from birth into adulthood, across the entire human race.
A New Future Ahead...
Groundbreaking discoveries in Pompe research continue to happen as recently as 2020. All of the logistical, communication, and healthcare nightmares that Covid-19 brought to the global community were not enough to overcome the human spirit and capacity to work together for the benefit of those in need; like an unborn baby girl diagnosed with Infantile Onset Pompe Disease.
Click the image to learn more about the life saving new treatment provided to an unborn patient as a result of multiple doctors across North America working together to save her life.
Not many things are more humanizing to causes like medical research than movies on the big screen – and Pompe Disease has its film advocate in “Extraordinary Measures”.
Click the image to read all about how Duke’s research on Pompe Disease inspired a movie.
Duke University Research Leads To A Movie!
Frequently Asked Questions
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).
Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
Pompe disease is named for the first doctor to describe the condition. Your body stores extra sugar as glycogen, which it then uses for energy. An enzyme called acid alpha-glucosidase (GAA) breaks down glycogen to help provide that energy.
Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body.
Gene therapy
This treatment uses a virus to deliver a healthy copy of the gene that is mutated in Pompe, the GAA gene, into the patients’ liver cells. Viruses are routinely used in gene therapy to deliver genetic material because they are specialized to do this to replicate.
It can be done as a blood test or as a skin biopsy, in which a small sample of skin is taken for testing. You or your child may also have genetic testing, which looks for mutations in the gene that controls this enzyme, to confirm the diagnosis.
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.
If the condition starts in childhood, patients may survive up to the age of 30 years; if it starts in adulthood, they can live to 50 years of ages.