diagnosis

Before I was diagnosed with Pompe disease, I had never previously thought about accessibility. I had never pondered what accessibility means, why it is important, or what I would do if I ever had to deal with it in my lifetime. Then the year 2018 hit me…

The strength of hip muscles and gait wherein only one leg is in contact with the ground were identified as key parameters that affect walking and falls in people with late-onset Pompe disease (LOPD). Both could help assess the effectiveness of new therapies and should be “priority targets for…

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).

When I was a kid, I liked to build things with Legos and Lincoln Logs. I had Tinker Toys and Erector sets to build cars, cranes, buildings, and more. All of the blocks, bricks, and logs were of different sizes and shapes, and when they were put together, I had…

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…

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,…

A long time ago, in a galaxy far, far away, I was celebrating 36 years on this planet. I’d just returned from the mountains in my landspeeder when I received a phone call from my sister. My dad, who was five months into his second round of…

In the United States, every child gets tested for a multitude of rare diseases and conditions at birth. However, each state picks and chooses which rare diseases and conditions they’ll screen for. Pennsylvania, where I live, added Pompe disease to their newborn screening panel in February 2016, a…

MRI scans of people with classic infantile Pompe disease showed a change in the microscopic structure of certain brain regions — but no damage was seen in patients with the late-onset form of the disease, a new study reports. “We conclude that, while no deviations from typical neurodevelopment were…

The level of variability seen during an ultrasound — a parameter called echo heterogeneity index — may help to quantify the level of skeletal muscle involvement in Pompe disease patients, a new study suggests. A lower EH index in the leg muscles was indicative of worse motor function, as…