Written by Heather Shorten, Founder, Pompe Alliance
On July 15th, 2015, I was diagnosed with Pompe disease after about 3 years of searching for a diagnosis. I know 3 years is a short time when it comes to finding an accurate diagnosis in the rare disease community, something that I attribute to having medical professionals in my family.
In my late 20s I began to lose abilities, but it didn’t have any effect on my everyday life, so I didn’t think anything of it. For example, I couldn’t wear shoes with a heel, I couldn’t jump or run, and I couldn’t walk up the stairs without assistance. As I began to get older the symptoms became worse. I began to experience serious joint and muscle pain; I began to have trouble breathing especially when I was laying down in bed. At one point I was sleeping on 5 pillows because if I laid flat, I couldn’t breathe. Every day I woke up in pain. Each night when I went to bed, I was certain that I was not going to wake up. I didn’t know how a person could live with so much pain.
The first visible symptom that sent me to the doctor was a build -up of fluid on my knee. During that appointment my doctor said that my kneecaps were out of place because of muscle wasting in my lower legs. After I went to see a doctor for a second opinion and was told by the doctor that women don’t get muscular dystrophy, I began asking my family members for help.
I began seeing a great doctor at Johns Hopkins but when he was unable to figure out what I had, he referred me to his colleague at the National Institute of Health (NIH). The first thing the doctor at NIH said to me was I think you have something called Pompe disease. He explained the testing necessary to confirm the diagnosis and that I would take about a week to get the result.
The day the doctor called to tell me that I had Pompe changed my life. I finally felt relief that I had a diagnosis. I now knew something was wrong and now I could start planning with my doctors how I was going to manage my illness. I began treatment four months later, on November 10, 2015.
Pompe has not slowed me down. I have always been an extremely social person, spending time with my family and friends has always been important to me. Prior to treatment I would make plans around my pain. For example, my family and I would plan activities for Friday or Saturday so I could rest on Sunday before going back to work on Monday. Once I started treatment, I saw myself being chained to a chair every two weeks for the rest of my life. Since receiving my diagnosis, I have lived in Australia and Singapore. I have checked many things off my bucket list, including becoming a certified scuba diver, snorkeling at the Great Barrier Reef, visiting the Sydney Opera House, Bali, Angkor Wat in Cambodia, the Colosseum, Hobbiton in New Zealand, and New Orleans. The planning to live overseas was not easy. When we went to Australia it took five months to plan, and when we went to Singapore it took 13 months. When the plan was finally in place for me to go to Singapore, Covid shut down the world. My husband and children had been in Singapore since November 2019, and it wasn’t until August of 2020 that I was finally able to join them.
On February 5, 2025, I will turn 50 and July 10, 2025 will mark the 10th anniversary of my diagnosis. Being diagnosed with Pompe disease has taught me a lot about myself and made me appreciate life so much more. I have learned that I am own best advocate, that I don’t have to take “no” for an answer, that there are people out there that are willing to help a person that they have never met. Furthermore, changing my goals is not the same as quitting. Australia and Singapore have a better healthcare system for their citizens than the US, and nothing is impossible. One of my favorite quotes is from Muhammad Ali: “Don’t count the days, make the days count.” Some days it is hard not to count the days, but Pompe has made me look forward to making every day count.
About the Author: My name is Heather Shorten, I am the founder and Executive Director of Pompe Alliance. I earned my bachelor’s degree in Sociology from Cleveland State University in 1999 and a master’s degree in social work also from Cleveland State University in 2004. I began advocating for rare disease issues in 2016 after being diagnosed with Pompe Disease in 2015. As Executive Director I direct all operations of the organization including media communications and advocacy. I was a presenter at the World Muscle Society conference in 2023, speaking on my experience as a Pompe patient and the leader of a patient organization. I have also presented for a few industry partners as part of their Rare Disease Day and Pompe Awareness Day events. I am also extremely passionate about equity in healthcare and have participated in several panel presentations on the topic. Additionally, I have spent 15 years working with children and families in child welfare specializing in the co-occurrence of child abuse and domestic violence.
