TRAE
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 would burn. After two muscle biopsies, I was diagnosed with AMD.
After college, I married and got pregnant. In my fifth month, I began to have serious problems. I became extremely weak and short of breath and was unable to walk more than about 10 feet. I was put on a Bi-Pap machine for nocturnal ventilation. Haley was delivered by cesarean section on September 9, 1993.
After Haley’s birth, I was determined to regain my strength and get off of the Bi-Pap machine. I did regain some strength but was never able to rebuild my pulmonary functions which are now 26% of normal. The disease is still slowly progressing. I have trouble keeping on weight. I am 5’4” and weight 93 pounds. My sister who is more severely affected is 5’7” and weighs 70 pounds.
I have been told that I should not have gotten pregnant—that it probably accelerated the progression of the disease. But even so, I would not change a thing. Haley is what my life is all about. She keeps me going and makes me smile on those days when life seems so unfair.
Rachel’s Story
May 2026 The following story was written by Courtney, Rachel's daughter, and submitted to us to share her mother's experience. We are grateful for her willingness to give us this window into their family's journey. While we strive to share accurate and helpful...
Dwayne Update: 3-4-2025
Updated—March 2025 Hi everyone, my name is Dwayne; I am 57 years old. I was diagnosed with Late Onset Pompe diseaseA form of Pompe disease that begins after infancy and usually progresses more slowly. More (LOPDA form of Pompe disease that begins after infancy and usually progresses more slowly. More) in November 2018 when I was 50 years old. I live in Southern California in the City of Irvine with my wife and mother-in-law. I am a father to...
McKenna’s Story
January 2022 I am McKenna Wellner and I was diagnosed with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More 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...
Genevieve’s Story
January 2022 My name is Geneviève, and I am 42 years old. I was diagnosed with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More 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...
Dwayne’s Story
December 2021 Hi everyone, my name is Dwayne; I am 53 years old. I was diagnosed with Late Onset Pompe diseaseA form of Pompe disease that begins after infancy and usually progresses more slowly. More (LOPDA form of Pompe disease that begins after infancy and usually progresses more slowly. More) 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...
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 DiseaseA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More 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 DiseaseA form of Pompe disease that begins after infancy and usually progresses more slowly. More 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 DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. 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 EnzymeA protein that helps the body carry out chemical reactions. More Replacement Therapy...
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
For the AMDA videos: All Rights reserved. No part of the AMDA's videos may be reproduced or transmitted in any form or by any means, electronic or mechanical, without the written permission of the copyright holder.
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
THE AMDA
PO Box 700248
San Antonio, Texas 78270 USA