I didn’t grow up imagining I would become an advocate, a nonprofit founder, or someone who could speak openly about a rare genetic disease. Like many people living with Pompe disease, my story began long before I had the language to describe what was happening to my body. What…
Daily living
A few days ago, I stumbled across Caroline’s old infusion backpack tucked away in the far corner of her closet. For a second, I barely recognized it — soft and pastel, the color of cotton candy, and shaped like a unicorn cat — it was so clearly a piece of…
Enzyme replacement therapy for Pompe disease — a standard treatment for the rare genetic condition — can be safely continued during pregnancy and breastfeeding, a new study indicates. In the small European study, the use of any of several approved treatments did not result in adverse effects in the…
Tomorrow, my daughter Caroline has an infusion. If you asked her about her summer excitement, she’d talk about the pool. The weather has been beautiful, and we’ve taken full advantage. In these first days of summer, she splashes with friends, races barefoot across the deck, begs for “just five more…
When my daughter Caroline was diagnosed with late-onset Pompe disease as a baby, we started enzyme replacement therapy before her first birthday. I remember spending what felt like endless hours at our children’s hospital, meeting new doctors and nurses, going through test after test. At first, it was…
Home-based administration of Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat), an approved combination therapy for late-onset Pompe disease (LOPD), appears to be safe for certain adults with LOPD, according to a pooled analysis from three clinical trials. In reviewing more than 9,000 treatment doses given to about 150 patients worldwide…
When our daughter Caroline was diagnosed with Pompe disease through newborn screening in 2018, our world turned upside down. We were suddenly lost, searching for answers amid a flood of tests, labs, and medical opinions. We chose to start enzyme replacement therapy (ERT) within her first 12 months.
Orthodontic treatment successfully addressed speech and swallowing problems in a young girl with infantile-onset Pompe disease (IOPD), according to a case report from Italy. “The approach outlined in this paper serves as an illustrative example of orthodontic treatment for addressing speech and swallowing difficulties in patients with Pompe Disease,”…
This summer, for the first time, I made a big decision to reach out for help for my oldest son, Cayden, who is 7 and was born with infantile-onset Pompe disease. A nurse attends school with him every day during the school year, but in the past, I’ve declined…
A test that measures walking speed over 10 meters (33 feet) offers a simpler and less demanding alternative to the commonly used six-minute walk test for evaluating walking performance in Pompe disease, and may be a better option for patients who have difficulty covering longer distances. In a French…
Recent Posts
- Nighttime breathing issues can emerge even with early Pompe care
- When a medical trip feels like a vacation to a child with rare disease
- Newborn screening finds more presumed LOPD cases than expected
- How I’m building a full life while living with Pompe disease
- Chronic pain affects more than 80% of late-onset Pompe disease patients