January 2022 I am McKenna Wellner and I was diagnosed with Pompe disease at 19 years old and I am now 20.  I first noticed symptoms the beginning of 2019 and was diagnosed October 1, 2020. Towards the end of my senior year of high school, I noticed walking up the...

December 2021 Hi everyone, my name is Dwayne; I am 53 years old. I was diagnosed with Late Onset Pompe disease (LOPD) in November 2018 when I was 50 years old. I live in Southern California with my wife and mother-in-law. I am a father to four sons. I also have a...

January 2022 My name is Geneviève, and I am 42 years old. I was diagnosed with Pompe disease at the age of 40. Here is my story. In my early thirties, I was skiing a lot with my 9-year-old daughter at that time. It was during this activity that my daughter pointed out...

January 2022 I was diagnosed with LGMD when I was 12 years old.  I had difficulty all my life with running, going upstairs, and doing sports, but no matter how hard things were I always pushed myself. I started working at 12 years old, started babysitting. At 16 years...

January 2022 This is Margot. She is almost two years old from Kentucky. She loves to swing, paint, and keep up with her 4-year-old brother. When she was born, there were no concerns. We went home and adjusted to our new life with baby number two. 8 days later, we...

November 2021 My name is Haley Hayes. I am from Virginia. I am 16 years old and was diagnosed with infantile-onset Pompe Disease at 6 months old.  I will be sharing my experience being a teenager living with Pompe and how it has affected me over the years. In the...

August 2021 My name is Caitlin Naldoza. I am 17 years old and was diagnosed with late onset Pompe Disease at 5 years old. I will be sharing my experience being a teenager living with Pompe and how it has affected me over the years. In middle school, that was when I...

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...

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...

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...

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...