In this column, I’m introducing what I call “The Pompe Community Diaries,” a series that will follow the journeys, musings, and challenges of the fellow Pompe disease patient community. I’ll collaborate with community members to share their voices and day-to-day experiences over time. It’s a space meant to foster…

Last year, the team at Pompe Disease News brought our readers news on the most recent scientific advances, treatment progresses, and clinical trials for Pompe disease. Here are the 10 most read stories we published on Pompe disease during 2024. No. 10 – Switch from Lumizyme to Nexviazyme…

Some individuals with limb-girdle muscular weakness, a hallmark symptom of a type of muscular dystrophy, may instead be found to have Pompe disease by genetic panel testing, according to a new study with data from more than 2,000 patients in 21 countries. That testing used next-generation sequencing, or NGS,…

A two-step process used to screen thousands of people with suspected Pompe disease led to diagnoses of the rare genetic condition in more than 700 individuals across 50-plus nations, a new retrospective study reports. The researchers used both biochemical and genetic testing to analyze more than 30,000 blood-spot…

It’s been over six years since my son Cayden was born with infantile-onset Pompe disease. Today, I consider myself to be an experienced parent when it comes to this disease. However, I’ll never forget what it felt like to hear the news of Cayden’s diagnosis. It’s almost an indescribable…

It seems like just the other day when I was sitting in the waiting room at the UCI Health ALS and Neuromuscular Center in Orange, California. I was meeting with a neuromuscular specialist for the first time to receive my diagnosis of late-onset Pompe disease. I will…

Pompe disease is less prevalent than expected in Spain, at around 3.1 cases per million inhabitants, according to a registry study that identified regional differences in prevalence, as well as the variable diagnosis and care workouts. “Our data supports the development of agreed guidelines to ensure that the care…

Heart defects detected with cardiac MRI (CMR) may help diagnose classic infantile-onset Pompe disease in early childhood, a case report from China suggests. An imaging exam showed a patient’s heart ventricles — the chambers that pump blood through the bloodstream and lungs — were enlarged, along with fibrosis (scarring).

As a society, we celebrate birthdays, anniversaries, and births. Some celebrate when their son or daughter goes to college or gets married. Others might do a happy dance when their team wins the World Series or Super Bowl. Personally, I celebrate the day I was diagnosed with a rare disease.

Imagine getting ready for bed at night. You sit down on the side of your bed with your feet touching the floor. The bedspread and sheets are turned over already, and you lie down on your mattress flat on your back. In that instance, you gasp for air and the…