HILLARY
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 sometimes ran track or played on the volleyball team. I have always been tall and thin, but towards the end of college, I started seeing physicians concerning digestive issues. Six years later, and after a myriad of tests, I finally had an answer.
Thankfully, with a diagnosis, I was finally able to begin some treatment and slowly feel better and stronger.
I went to see Dr. Slonim, in New York, and he is not only an expert on Pompe, but he is a doctor with a heart of gold. He is the pioneer of the NET approach – Nutrition & Exercise Therapy.
I made changes to my diet and exercise routine which have dramatically improved my health.
I try to stick to a high protein diet, and limit carbohydrates. I exercise a lot – I walk on my treadmill five mornings a week, and then I also do a combination of pilates & physical therapy two mornings a week and quick strength and flexibility exercises at home. Taking care of myself is akin to a part-time job. I have to put my health first. I exercise in the mornings and then work in the afternoons as a reading tutor for dyslexic students. Four years ago I added Myozyme (aka Lumizyme) to my treatment. Since that time, my pulmonary function has stabilized, and in combination with all my physical therapy, I have gained strength. Myozyme is not a cure, but over the long term, I feel like it has made all the other work that I do much more beneficial. I even started skiing again!
Due to the rare nature of this disease, I have had to become very responsible for my own knowledge of the disease and I take information about Pompe to every new physician that I see. I am followed by a muscular neurologist, cardiologist, pulmonologist, genetic metabolic specialist, and gastroenterologist. For some of those physicians, I am their only patient with Pompe that they have ever seen. I have had to be very assertive with my insurance company as well, which is designed to deny many claims associated with any type of rare disease. I have had to fight for the treatment and benefits that I’m entitled to.
The emotional challenge of a diagnosis like Pompe’s has been tough. I feel cheated out of the life I always imagined growing up. It’s difficult not knowing the course that my disease will take in the future. All I can do is try to work hard every day and try not to let Pompe run my life. I spend time relaxing at home, enjoying the outdoors, hanging out with friends and family, and traveling. I am very lucky to have a supportive family. I live in the beautiful state of Oregon with my husband and beagle.
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
Acid Maltase Deficiency Association
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:
info@amda-pompe.org
AMDA
PO Box 700248
San Antonio, Texas 78270 USA