Haley Hayes is a normal pre-teen, yet she suffers from Pompe disease. Pompe disease is a genetic condition, which causes muscle and organ impairment. Early diagnosis and enzyme replacement therapy…
Pompe disease affects roughly one person in every 40,000. One form of the disease specifically develops within the first months of birth, or early on in childhood. Now, the first…
RespireRx Pharmaceuticals announced last month it was cleared to resume its ampakine CX717 clinical trials to evaluate the drug’s efficacy in several central nervous system and respiratory disorders, including Pompe…
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 fate of newborn screening for Pompe disease and MPS-1 throughout the state of VA will be determined next week. The VA Newborn Screening Advisory Committee meeting will take place…
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…
The courage and persistence to keep going, past hurdles and obstacles, is powered by purpose, and for one woman living with Pompe disease, her purpose is to overcome barriers to…
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,…
In 1964, Henri Hers was studying Pompe disease when he suggested that the absence of lysosomal enzymes could be responsible for several other conditions. He was right, and a category of…
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…
There are lots of things you want to pass down to your kids: Intelligence Athletic ability Creative talent Amazing good looks Pompe disease isn’t one of them. Pompe disease occurs…
...But you didn’t order fries and you certainly don’t want the combo meal! I recently read about Kelly du Plessis, a Mom in South Africa whose 6 year old son…
What would you do if you were told that your six-month-old daughter had a rare genetic disorder and wouldn't live past a year? Would you: A. Cry hysterically B. Punch…
Imagine your newborn not thriving? Imagine how helpless and frightened you’d feel if your child’s heart and muscles were weak. Devastating. Listen up people, there’s important information you need to know…
Lysosomal Storage Disorder, or LSD, is a catch-all term for more than 45 inherited metabolic disorders that result in the build-up of various toxins in the patient's cells. Currently, there is treatment…
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