Pompe disease is a genetic disease, and close relatives of the patient may have the condition themselves or be a carrier for the disease.
Getting family members tested for mutations in the GAA gene is very important, as early diagnosis is key in managing the condition effectively.
Broaching the topic of Pompe disease with your family may not be easy. Here are some steps you may take:
All at-risk family members of legal age to provide informed consent may be offered genetic carrier testing (mutation analysis) by a healthcare provider.
Prenatal testing is also available for couples at risk of having an affected child, and this test includes a tissue sample taken from the amniotic fluid. The test can be performed as early as the 12th week of pregnancy and can provide results in as quickly as a few days. Researchers recommend that genetic testing identify both defective alleles of an affected family member before prenatal testing is done.
Healthcare providers should offer genetic counseling to all families with a family member who has been diagnosed with Pompe disease or is a known carrier of Pompe disease. This includes diagnosis through newborn screening, clinical diagnosis, and prenatal diagnosis.
Genetic counselors are specialized health care professionals with expertise in medical genetics and family inheritance issues. They are trained to help families by providing information on family inheritance patterns and genetic testing, explaining implications of genetic disorders, identifying at-risk individuals, helping patients and families cope with a diagnosis, and providing guidance on disease management.
Counseling is important to help family members gather information from a trusted source and make informed decisions about their medical care and personal welfare. Genetic counseling is also important to identify and discuss the probability of passing on the GAA gene variant(s) to future children.
One parent with Pompe disease will have a 100% chance of having children who are carriers with each birth. But genetic counseling becomes especially critical when one parent has late-onset Pompe disease (LOPD) and the other parent is a carrier for a pathogenic mutation that could cause either LOPD or infantile-onset Pompe disease (IOPD) in the offspring.
With the availability of newborn screening, patients with LOPD are diagnosed years before the appearance of symptoms, and this is a unique challenge. Genetic counseling can help these patients and their family cope with this diagnosis.
Information on tools and resources can be found in the Patient and Caregiver Support section of Resources.