diagnosis

You get the call. It’s rare, they say. Probability is low, statistics meant to comfort. They assure you this doesn’t happen often. But sometimes, despite all the reassurances, rare things happen anyway. When it happened to us, I immediately wondered what I could have done differently. I blamed myself for…

I still remember the phone call as if it were frozen in time. It was mid-morning, and I was in bed feeding my newborn, Caroline. With the shades slightly drawn, just a sliver of light crept in, letting us both cozy up and drift off. Caroline was only a week…

Throughout 2025, the team at Pompe Disease News has brought readers updates on emerging treatments, scientific advances, and clinical findings in Pompe disease. Here is a list of the top 5 most-read news stories of this year. We are grateful to have had the opportunity to support people…

A newborn whose symptoms initially mimicked oxygen deprivation was ultimately diagnosed with Pompe disease, highlighting potential challenges in identifying the condition, according to a case report from Italy. This was an uncommon presentation, according to researchers, who described the child’s symptoms, which included an enlarged heart and weak…

A 43-year-old woman who was experiencing breathing problems and muscle weakness was eventually diagnosed with late-onset Pompe disease (LOPD) through genetic testing, highlighting the challenges of diagnosing the condition due to its rarity and nonspecific symptoms, according to a study. “It is important to consider late-onset Pompe disease in…

Estimates of the number people diagnosed with Pompe disease vary widely across regions, with notably higher rates in populations of African descent, a study review found. The researchers attributed the variability to underlying genetic differences as well as inconsistencies in diagnostic criteria, newborn screening methods, and disease classification depending…

Combining a symptom-based scoring tool with healthcare provider education may help identify patients who have an increased risk of having a missed diagnosis of late-onset Pompe disease (LOPD), a study in the U.S. shows. A LOPD diagnosis should be considered in patients with progressive muscle weakness and at least…

In my last column, as part of “The Pompe Community Diaries” series, I introduced 37-year-old Michael Thames, a behavior analyst from South Carolina who has Pompe disease. When he was younger, Thames was confident in his ability to be self-sufficient. But from the beginning of his training in…

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…