genetic testing

How to Deal With Guilt as a Rare Disease Parent

When my son, Cayden, was diagnosed with infantile-onset Pompe disease, I experienced a multitude of different emotions. One of the biggest things I struggled with was the guilt that came along with his diagnosis. Because Pompe is a genetic disease, I know I am part of the reason my son…

Different Types of Mutations Appear to Predict Pompe Subtypes

The type of genetic mutation carried by a Pompe disease patient appears to predict whether the disease is infantile- or late-onset, according to a study. However, newly diagnosed patients should still undergo complete genetic, cardiac, and neurological tests, scientists stated. The study, “Phenotypic implications of pathogenic…

Weighing the Unknowns of Family Planning

One of the hardest things about being a special needs parent is all of the unknowns. Not knowing what tomorrow will look like makes planning things a bit difficult. I am someone who likes to have plans set in stone. However, I’ve had to adjust,…

Newborn Screening for Pompe Disease

Newborn screening for Pompe disease can help improve outcomes for babies and prevent a long diagnostic journey. Following is some information about newborn screening and how it can help the children and their parents. About Pompe disease Pompe disease is a rare genetic disease. It is characterized by…

Prenatal Diagnosis for Pompe Disease

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…