Genetic counselors can help plan next steps

Finding out someone has Pompe disease might lead to confusion and uncertainty about what happens next. Genetic counselors are health care professionals who have special training to help patients understand genes and genetics. They can help people with Pompe disease understand their situation and the choices they might need to make.

How someone inherits Pompe disease

Pompe disease can develop if both parents have changes in a gene that can cause the illness. A person who carries only one piece of the defective gene (allele) doesn’t show any signs of the disease.

If both parents have this defective gene, a child has a 25% chance of getting two copies of the gene—one from each parent. If this happens, the person will have Pompe disease and develop symptoms. This way of passing down genes is called autosomal recessive.

How a genetic counselor can help

People with Pompe disease might need help understanding how it affects their lives and their families. A
genetic counselor helps them learn what they need to know to make smart choices about their health and
personal lives. These choices can include whether or when to start treatment. Individuals or families may
also need to decide if they’ll have any additional testing, such as:

Genetic testing: If Pompe disease was diagnosed through a biopsy to measure enzyme levels in muscles, some people may have DNA testing to confirm the diagnosis.

Molecular testing: People in the family who don’t have Pompe disease but could pass it on to their kids might get tested to check if they have the gene that can cause the disease.

Prenatal diagnosis: Parents who had an affected child before or might have a child with Pompe disease can decide to test the mother when she’s pregnant. The test checks the baby’s cells for the genetic mutation.

Newborn screening: In certain places in the United States, doctors can find out if babies have Pompe disease through special tests given to newborns. But not all states test for this disease in babies.

Find out which conditions are included on each state’s newborn screening panel.

How to find a genetic counselor

If a genetic counselor isn’t part of the care team yet, a doctor can recommend a counselor who knows about rare diseases like Pompe disease.

Learn which doctors may be included in the Pompe disease care team.