parenting

At least once a year, parents of disabled children sit down with teachers, therapists, and other important people at an individualized education plan (IEP) meeting. While IEP meetings are meant to be genuinely helpful, they can take a toll on special needs parents.  During the…

At the young age of 15, I stared at the two bold lines on my pregnancy test and immediately burst into tears. How would I do this alone? I was only a sophomore in high school. I had no clue how I’d finish school and take care of…

Some doctors specialize in one field of medicine, which requires them to go through even more education and training. My son, Cayden, sees many different specialists, including a metabolism specialist, pulmonologist, cardiologist, gastroenterologist, nutritionist, otolaryngologist (ENT), and orthopedist.  Each of these specialists serves a…

Fertility in women is not affected by late-onset Pompe disease (LOPD), but pregnancy may initiate or worsen symptoms, a small study found.  The study, “Pregnancy Outcomes in Late Onset Pompe Disease,” was published in the journal…

Receiving a Pompe disease diagnosis for you or your child can come as quite a shock. But now that you know, you may want to start planning for the future. Types of Pompe disease There are three main types of Pompe disease, each with different ages of onset…

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…

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 through this registry is likely to help them better understand and treat inherited metabolic disorders like…

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…