A year ago today [April 29, 2004] our son, John, passed away from Pompe Disease.  He was four years old.  Most of you will not recognize his name, but you all should know who he is.  John was patient 101 – the first person to receive the CHO Enzyme Replacement Therapy...

A Mothers Anguish April 6, 2002, was the saddest day of my life. Senselessly, while in the care of an inept medical system, my wonderful daughter passed away. Her name was Patty. Everyone, especially the medical profession, should be aware of the potential for this to...

This is the story of me from before I was diagnosed with Pompe’s disease.  I hope this helps to enlighten the medical community as well as other Pompe patients. Back in 1965 my Mom was told that I would be born on December 2nd.  This date came and went and the...

Our son Luke, the youngest of four children, was diagnosed with Pompe’s Disease at 5 months of age. He had a very normal birth and development but was a floppy baby. Luke was first hospitalized at 6 months of age with RSV virus and pneumonia after which he was...

I was diagnosed in 1991 at age 22 with AMD. I also have a sister who is severely affected by the disease. She was diagnosed 13 years ago at age 20. In college, I began to notice that it was getting difficult to walk upstairs. I would get very winded, and my muscles...

December 2004 Several months ago, I was given the opportunity to write a paper about an experience that changed my life. I wrote about being diagnosed with Pompe’s disease. I found that writing about my experiences was a good experience for me. To read this paper,...

At 16 years of age, Robin was an accomplished violinist and had just won a major regional competition when she came down with flu symptoms. Severe fatigue and weakness followed, and she could no longer attend school. A year later she was finally diagnosed with AMD....

Hello everyone. My name is Jill, and I have a story to tell about my amazing and fearless son, Thomas. Thomas was born on Sept. 6, 2002. His trip was less then smooth. Although he looked like a beautiful and healthy 10lb 9oz baby boy, he had some problems with his...

I was diagnosed with Pompe in my mid-20’s after losing weight for several years.  I am now in my early 30’s and feeling better than I was when I was diagnosed. I had a typical childhood.  I swam on the swim team during the summertime, and during the school year, I...

George Jacob Thomas, age 14, is suffering from GSD Type 2, Pompe. We reside at Trivandrum, Kerala State, India. Symptoms of Pompe were evident in George’s case when he was 7 years old and his condition progressed over the years. Diagnosis took quite a few years since...