One test that doctors use to diagnose Pompe disease, a rare genetic disease caused by mutations in the GAA gene, is an enzyme activity test. GAA provides cells with the instructions necessary to make an enzyme that plays a role in breaking down a complex sugar molecule called…
As the caregiver of someone with Pompe disease, you know how physically and emotionally draining it can be to help your loved one with everyday tasks, partake in activities they enjoy, or — sometimes — to simply move about. A practice called mindfulness may help you cope. What is…
If you are at risk of transmitting Pompe disease to your children, you may be thinking about your reproductive options and interested in prenatal diagnostic testing. What is prenatal diagnosis? Prenatal diagnosis involves performing a genetic test on your baby before birth. Getting genetic material from…
If you are a carrier of Pompe disease, you may be wondering about the risks of passing the disease to your children. A carrier has one copy of a disease-causing mutation but does not have the disease themselves. If your partner is not a carrier of a…
Genetic testing looks for changes in genes and chromosomes that might indicate you have a genetic disease such as Pompe disease. Genetics of Pompe disease Pompe disease is caused by mutations in the GAA gene. These mutations lead to your cells not being able to properly make…
If you, your partner, or anyone else in the family has Pompe disease, you may wonder whether the disorder also will affect your future children. Genetic counseling can help you calculate the risk and help you with genetic testing and family planning. What do genetic counselors do? Genetic…
If your child has Pompe disease, you may consider enrolling them in the ongoing Pompe disease registry. Among other things, the information that researchers collect though this registry is likely to help them better understand and treat inherited metabolic disorders like…
People who have Pompe disease likely will need an array of healthcare specialists to help them manage symptoms of their rare genetic condition, which results from the abnormal buildup of glycogen inside cells. That buildup impairs the working of different organs and tissues, particularly the heart, respiratory,…
Children with Pompe disease, like other children with special needs, may benefit from an individualized education plan (IEP; also called an individualized education program). What is an IEP? An IEP, authorized under the federal “Individuals with Disabilities Education Act,” is a plan or program intended to…
Pompe disease is a rare disorder caused by mutations in a gene called GAA, which provides instructions for making an important enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is responsible for breaking down a sugar molecule called glycogen to provide energy to…
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