late-onset Pompe disease

A newborn screening program for Pompe disease in Minnesota was found effective for getting babies with infantile-onset disease started on early treatment, but challenges remain for those with late-onset disease (LOPD). “The management of LOPD cases including the establishment of standardized follow up guidelines … and a better…

After more than a decade on Lumizyme (alglucosidase alfa), a teenager with late-onset Pompe disease (LOPD) developed an immune response against the therapy, which led to a worsening of disease symptoms. The patient was treated successfully with an immune-modulating therapy regimen that eliminated the aberrant immune response and…

I wrote a column this spring about my 5-year-old son, Cayden, needing to see an orthopedic specialist again. Well, we finally had that appointment late last month, with a doctor he hadn’t seen before. It didn’t go as well as I’d hoped. When Cayden’s metabolic specialist sent the…

I’ve always thought the stereotype that “spa days are for the ladies” was a thing. Now I realize that spa days are for everyone. And they especially benefit me, a guy who has a muscle weakness disease called Pompe. There are days when my legs just feel achy, my…

The enzyme stabilizer Opfolda (miglustat), one part of the two-component therapy formerly known as AT-GAA (cipaglucosidase alfa/miglustat), has been approved by the European Commission to treat adults with late-onset Pompe disease (LOPD). The news comes a few months after the other part of AT-GAA, the enzyme replacement Pombiliti…

Last week, we had our first pool day of the summer. I got pool passes for myself and my 5-year-old son, Cayden, who really enjoyed it last year. In fact, he’s been consistently asking to go again. But here in Pennsylvania, summer is the only time it’s warm enough to…

Back in the day, I had to do a report for school and needed information about a country. I don’t remember which one, but I remember asking my mother for help writing the report. Her response was, “Go grab the Encyclopedia Britannica, the one that starts with the first letter…

Last January, I wrote about how I adapted to having a high-deductible health plan. One way I did that was by putting off physical therapy until I met my deductible. At that point, I’d restart my physical therapy for the year. I hit my deductible in March and…

People with late-onset Pompe disease (LOPD) rarely have genetic variations in genes that are important for making glycogen in muscle cells, a new study suggests. “We did not find a single variant that strongly affected the phenotype,” or observable characteristics in patients that result from the expression of a…

Whenever it was time to play dodgeball in my elementary school years, I was always picked last. Growing up, I wasn’t physically gifted. I couldn’t run, and I moved slowly. For a kid, my balance was uncharacteristically off. Despite being raised in Southern California, I was unable to surf,…