The Virginia Newborn Screening Advisory Committee met late last week to determine the fate of Pompe Disease and MPS-1 screening in VA. Before the vote took place, some families spoke…
The brave aren't fearless. They just do the right thing despite their fear. The same goes for resilience. You might think the truly mentally tough never want to quit, but…
Author Douglas Adams once said, “I love deadlines. I like the whooshing sound they make as they fly by.” Deadlines are a strange thing. Sometimes, a doctor will give you…
Nothing’s better than kids who rock! In my own small social circle, I hear stories about honor roll achievements, Jiu jitsu belt honors, and more. There are some pretty awesome…
In 1932, a Dutch physician named Johannes C. Pompe noticed significant muscle weakness in an infant he was treating. In the years that followed, scientists would not only name the…
In these times of political uncertainty, when budgets are being slashed, and medical programs are being defunded without regard to the people who will ultimately suffer, I certainly hope that…
Yes, it's that time again, when holiday meals and homemade pies entice us to stay at the table longer than we otherwise might. With the holiday season in full effect,…
Are you ready to start a family? Or are you considering adding another child to your nest? If so, the March of Dimes shares some insight on what moms or…
Pompe disease is one of those rare disorders that progresses steadily over the course of a person's life. Patients are lacking the enzyme that breaks down glycogen, and the build-up of…
Pompe disease an inherited neuromuscular disorder that is caused by certain gene mutations, particularly in the gene that makes acid alpha-glucosidase (GAA). In Pompe's most severe form, it's often fatal because…
My grandpa—who is one of the most steadfast, honest, and true people I’ve ever met in my life—told me this: “The world isn’t made for ordinary people anymore.” Being a…
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