COVID-19

The COVID-19 pandemic affected the treatment, as well as the physical and mental health, of people with Pompe disease, according to a recent survey of patients in 25 countries. More than 50% of respondents reported interruptions in enzyme replacement therapy (ERT) and physical therapy, affecting their disease, and…

It’s no secret that COVID-19 has caused a lot of issues for not just the United States, but the entire world. Because of the pandemic, for example, we’ve recently been experiencing issues getting the necessary medical supplies for my 4-year-old son, Cayden, who has infantile-onset Pompe disease. Cayden…

Infection by SARS-CoV-2, the virus that causes COVID-19, led to mild symptoms and no hospitalizations in people diagnosed with Pompe disease, a small Dutch study reports. However, since the patients had mild disease and were relatively young, more study is needed to assess outcomes in this population, the researchers…

Interruptions to Myozyme enzyme replacement therapy (ERT) regimens during the COVID-19 pandemic led to worsened motor symptoms and poorer respiratory function in patients with Pompe disease, a French study found. These decreases in motor and respiratory function — seen after just a couple of months — were not…

Infection by the virus that causes COVID-19 led to mild-to-moderate symptoms in four people with late-onset Pompe disease (LOPD) and pulmonary involvement, despite the increased risk of severe complications in such cases, scientists reported. “COVID-19 infection can result in a benign course in some patients with LOPD. However, individuals with LOPD…

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…

My family had managed to avoid being exposed to COVID-19 until recently. Earlier this month, on the same day I got my vaccine booster shot, I was exposed to the virus by my mom. She woke up feeling very sick the next day, and shortly after that, all…

Although my 3-year-old son, Cayden, loves preschool, I had to make a tough decision not to send him for a while. We have officially entered cold and flu season. While most parents don’t look forward to this time of year, it’s especially terrifying for me. Cayden’s infantile-onset Pompe disease…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…