Written by Vanessa O’Connell
Hello, my name is Vanessa, and I am living with late onset Pompe disease, also known as glycogen storage disease type II and acid maltase deficiency. I was diagnosed in December of 2014.
Pompe disease is caused by a genetic mutation that prevents the body from manufacturing an enzyme that breaks down complex sugar molecules called glycogen. Without the enzyme, glycogen builds up to toxic levels within the cell organelles called lysosomes. This build-up can damage cells, especially muscle cells, including the proximal muscles and those used for breathing, walking, climbing, and swallowing, to name a few. Pompe disease is one of the rare forms of rare disease that has a treatment. It’s not a cure but it’s a bi-weekly infusion of the enzyme that my body is lacking. This infusion, also commonly known as enzyme replacement therapy (ERT), is meant to slow the progression of the disease and hopefully slow down future muscle wasting.
Even though I was not correctly diagnosed until later in life, some symptoms were prevalent in my early childhood. These symptoms included poor posture, speech impairment, and gait abnormality. My parents took me to a few doctors, but all they said was “her hips and legs are growing faster than the rest of her body,” and “It’s just growing pains.”
In 2010, I started waking with headaches every morning. I was not sleeping well and was waking up every hour or so to adjust. I was falling asleep while driving, in a movie theater, or watching TV. I could even fall asleep sitting straight up. This brought me to a specialist at sleep study lab. I was diagnosed with severe sleep apnea and placed on a Bi-pap machine to be used when sleeping at any time and/or sitting at an incline. I was then referred to a local pulmonologist, neurologist, cardiologist, and rheumatologist. This was the start of my diagnostic journey. After a series of tests and an inconclusive muscle biopsy, I went to a clinic in another city that has specialists in neuromuscular diseases, among other things. I was diagnosed there after four years and after seeing two different neurologists.
Learning of my diagnosis was a scary time and full of uncertainty. I did not know what my future would hold, and I kept wondering how I could continue to work full time. Could I take a day off every other week for the infusion? Could I take time off to see all the specialists that they wanted me to? I had two kids at home that I was very involved with at their schools and their activities. My muscles were becoming more severely impacted during those years when I was seeking a diagnosis. I was also becoming very depressed and angry. Finally, my diagnosing doctor had never met a patient with Pompe disease before. I’m extremely fortunate that he remembered the symptoms from medical school. I had started walking with a cane and using a manual wheelchair most times when leaving my home.
Once I started ERT, in January of 2015, I realized that the Pompe community had support/encouragement groups, and I didn’t feel so rare when I met and could talk to others on the same journey. I became involved in and started attending online and in-person seminars and conferences regarding my disease. I joined the Muscular Dystrophy Association, and I currently serve as an ambassador. I also saw and continue to see a group of specialists at a university in another state that are experienced in my disease.
In July 2017, I started to become more physically active and began attending a sports medicine and rehab program. By focusing on balance training, cardio, and light weights, I became stronger, and I was able to go completely independent of the cane and manual wheelchair by the end of 2018.
In January 2019 I started seeing a Physical Therapist who encouraged me to work out five days a week. I also added Pilates and yoga to my routine. In 2020 I joined a public gym, where I remain to this day. Being active has helped me not only physically but mentally. Proper nutrition and staying active is important for everyone, but even more so for those with Pompe disease. There is an old saying about Pompe muscles of “use it or lose it.” I believe it is true. I would say that nothing happens overnight, keep trying. Every improvement that I have seen has been gradual, but I am able to maintain them once achieved.
I stay involved within the Pompe community by volunteering for a non-profit organization that provides knowledge on studies involving the disease, as well as many types of community support and monthly informative Zoom meetings on a myriad of topics. My role as support is to mainly offer exercises that most can do if they are able to stand or those that may be more severely impacted and confined to a wheelchair. I reach out to newly diagnosed patients and offer advice and comfort in their time of uncertainty. I take advantage of every webinar, zoom call, seminar and conference that I can to stay up to date. I have also participated in 3 clinical trials, the last of which ended this past April. I am a member of a few Patient Advisory Boards, helping to provide information to pharmaceutical companies on future treatments and needs within the Pompe community.
My outlook for the future: The landscape of Pompe disease is changing. Newborn screening is currently in 48 states in the US and that accounts for 88% of all births. Babies are being diagnosed and starting treatment much sooner, many within the first few weeks of life, in most cases before any irreparable muscle damage occurs. There are 3 FDA approved forms of ERT available currently and clinical trials for other forms of treatment are in the works. People waiting until later in life and sometimes never being diagnosed will soon hopefully be a thing of the past.
