Home infusions of enzyme replacement therapy (ERT) are safe for children with Pompe disease after an initial period of hospital-based treatment, a Dutch study spanning more than 20 years found. Infusion-associated reactions occurred in fewer than 5% of nearly 12,000 infusions, and most were mild. About half of…
Discussion
When people meet my daughter Caroline, they sometimes tell me how lucky she is. They say she is lucky to have such a supportive family. Lucky to have parents who advocate for her. Lucky to have access to the treatment she needs. Lucky to have a sister who looks…
Discussion
Changes in the brain and spinal cord may begin early in children with classic infantile-onset Pompe disease, years before they become apparent on brain scans, blood tests, or cognitive assessments, according to a review of data from published studies. Researchers found widespread buildup of glycogen — the complex sugar…
Becoming educated and informed about Pompe is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnist’s words of wisdom to help you along on your Pompe journey.
There is no cure for Pompe yet, but there are treatments that can help manage the disease. Learn more about current therapeutic approaches here.
Get regular updates to your inbox.
