ROBIN
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.
Robin’s condition continued to deteriorate and just when she was about to give up her violin studies, she was selected by Very Special Arts to perform as a national Panasonic Award winner at the Kennedy Center in Washington, D.C. She took this opportunity to travel to North Carolina and New York to visit specialists recommended by AMDA. Under their guidance, Robin started using a Bi-Pap ventilator at night and went on a special diet and exercise program.
In the following year, Robin gained more than 15 pounds and gradually regained some of her strength. As Robin could no longer commute long distances regularly, she moved 90 miles to live near a university hospital and her music activities.
Today, Robin is finishing high school through a public school home tutor and continuing her musical pursuits. She recently won the honor to perform as a national Yamaha Young Artist. She serves as concertmaster of her orchestra and plays first violin in a string quartet which has performed for President Clinton among numerous other engagements. Robin is planning to go to college and hopefully waiting for the upcoming enzyme replacement therapy.
– Robin’s mother
McKenna’s Story
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...
Dwayne’s Story
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...
Genevieve’s Story
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...
Elizabeth’s Story
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...
Margo’s Story
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...
Haley’s Story
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...
Caitlin’s Story
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...
JOHN’S STORY
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...
PATTY’s Story
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...
STACY’s Story
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...
WE NEED YOUR HELP!
To further research into Pompe Disease, as well as support Pompe patients around the world, private funds must be raised. If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:
AMDA (Acid Maltase Deficiency Association)
P.O. Box 700248
San Antonio, Texas 78270-0248
Phone: 210-494-6144
Email: info@amda-pompe.org
