Aug 5, 2021 | PATIENTS
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...
Aug 5, 2021 | PATIENTS
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...
Aug 5, 2021 | PATIENTS
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,...
Aug 5, 2021 | PATIENTS
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....
Aug 5, 2021 | PATIENTS
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...
Aug 5, 2021 | PATIENTS
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...
Aug 5, 2021 | PATIENTS
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...
Aug 5, 2021 | PATIENTS
On January 3rd, 2010 I gave birth to a beautiful healthy baby girl weighing 7 pounds. We took Kaia home a few days later and for the first 3 months of her life she was a normal baby – gaining weight, feeding well, kicking her legs, laughing and cooing. At about three...
Aug 4, 2021 | PATIENTS
Phoenix UPDATE: 2-2-2021. Wow! That’s was a long time ago, BUT, Luckily, we are still here! Phoenix is now 18 years old, and while we loved him being able to push his chair around the house he can no longer do that. He actually isn’t really even strong enough to...
Jun 11, 2021 | PATIENTS
Phoenix was born July 18th, 2003. I remember reading his APGAR test and the words of the neonatologist were “strong” however, I couldn’t tell if he was referring to his heart or his muscles. At any rate, he showed no sign of any serious problems other than the fact...
