Living for the Moment: Doing the Unexpected With Pompe Disease
Last updated: November 2023
It was 2018, and I turned 50 years old in March. The following month, we lost our oldest son to a brain tumor. He was only 22 years old. It seemed like my life was starting to fall apart.
I began to notice that I couldn't stand up from a seated position anymore unless I pushed off with my arms. Then, I found myself unable to get up off the floor and needed assistance or a chair close by to push myself upright.
We lived in a second-floor apartment and I started having weakness in my legs trying to climb up the steps. I was stepping up one leg at a time and only with my right leg. I became very tired and exhausted while climbing the steps. I even started grabbing the handrail to pull myself up the final steps. At night, when I lay in bed, I felt short of breath and had a hard time falling asleep.
This or That
Which is harder to manage for you, pain or fatigue?
This was the beginning of my diagnosis journey
These serious symptoms brought me to see my primary care physician in July that year. He referred me to a neurologist, and my diagnosis journey was just beginning.
I endured an electromyography (EMG) and nerve conduction study test, resulting in the news of having a myopathy or muscle disease. With over 200 different kinds of myopathies, it was unclear what it could be. I mentioned to the neurologist that when I am in the swimming pool with water up to my chest, it feels like someone is stepping on my chest. Breathing becomes hard, and I have to retreat to the shallow end.
For some unknown reason, he said, "That sounds like Pompe disease." I had never heard of Pompe disease. I was leaning towards amyotrophic lateral sclerosis (ALS) or maybe limb-girdle muscular dystrophy. The neurologist had me do a muscle biopsy and a blood test for Pompe. He then referred me to see a neuromuscular specialist.
While waiting for the biopsy results, we attended a United Pompe Foundation conference in November. I spent countless hours searching the internet for Pompe disease.
Diagnosed with Pompe disease
On November 19, 2018, I was diagnosed with late-onset Pompe disease, a rare, inherited genetic disease. It is also known as glycogen storage disease type 2, in which the body lacks the acid alpha-glucosidas (GAA) enzyme to break down glycogen stored in the muscle cells. The glycogen builds up to toxic levels in the muscle cells and causes them to burst and deteriorate, resulting in muscle weakness and wasting.
There is no cure for Pompe disease, only a bi-weekly enzyme replacement therapy treatment to help slow down the disease progression. Patients will get infusions for the rest of their life. It is a debilitating disease that causes muscle weakness across the whole body. The smooth muscles and the diaphragm get weaker, causing a decline in breathing.
Letting go of fear, grasping onto hope
On one hand, I was relieved to know there was a treatment for my rare disease. But on the other hand, I was scared and afraid about what lay ahead on my journey. How was my life going to change moving forward? There is so much uncertainty in living with a rare disease.
Getting a diagnosis of Pompe disease altered my thinking as to what was now important to me. I began to realize that life was about having adventures and experiences and spending time with friends and family while making memories and enjoying life to the fullest. I started to let go of the fear and grasp onto hope – hope for better treatments and outcomes for Pompe patients.
What was your initial reaction when you received your or your loved one's rare disease diagnosis?
Doing the unexpected
After a few years of treatment and physical therapy, I was ready to step out of my comfort zone and do unexpected things.
Snorkeling in Hawaii
Last October, we went on a vacation to Hawaii. I had never been to Hawaii, so I was excited to go with a co-worker and my wife's best friend to the island of Oahu. There, I went snorkeling for the first time in Hawaii. Snorkeling in the Pacific Ocean was such an incredible experience.
Breathtaking views in Cancun
Then, in January, we went to Cancun, Mexico. I found myself on the beach, standing in the Caribbean Ocean. The water glistened with so many different shades of blue and green; it was breathtaking. I never imagined that living with a rare disease would improve my quality of life. Keeping a positive outlook on life and thinking outside the box brought me new opportunities.
West Coast to East Coast
Finally, in October, I traveled to Fort Lauderdale, Florida, to participate in the Miami Dolphins Fan Club Weekend. I attended my first Miami Dolphins home game at Hard Rock Stadium. It was so unexpected and such a blessing. We stayed at the Hollywood Beach Marriott for the weekend. We went down to the beach to check out the boardwalk, and a few other Miami Dolphins fans helped to pull my electric travel wheelchair through the sand. I walked down to the water and realized I was now standing in the Atlantic Ocean. From the West Coast to the East Coast, sitting in a plane for 5 hours, I was in a different time zone, losing 3 hours of daylight, but being in the ocean just soothes my soul.
Fear will not hold me back
It's incredible to think within the past 12 months, I have stood in 3 different oceans and traveled 15,000 miles. I am not letting Pompe disease stop me from making these memories or experiencing these moments.
I am letting go of the fear holding me back and stepping out of my comfort zone. I am doing things unexpected of me even though I am living with a rare disease.
Are you doing unexpected things in your life with a rare disease? Tell us more! Share in the comments below, or submit your story for our community to read.
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