A Pompe patient shares his experiences with diaphragm issues

In my last column, as part of “The Pompe Community Diaries” series, I introduced 59-year-old Steve Bersani, who lives with Pompe disease and served in the Boston Police Department for 30 years before retiring in 2018.

In recent video chats with Bersani, we discussed the issues he faces because of his collapsed diaphragm. Excerpts, edited for clarity, follow.

AW: Describe the diaphragm issues you face today.

SB: I have no diaphragm, so my respiratory [function] isn’t good. When normal people breathe in, the stomach goes out. Mine is the opposite.

I am on the VPAP [variable positive airway pressure machine] all night, so when sleeping, things aren’t as bad. I do wake up to all of my diaphragm issues. It feels like a squeezing around my chest with a dull, slow burning. Early on, it felt like someone was giving me an uncomfortable bear hug or I was wearing a tight jacket. The jacket just gets tighter.

My doctor said that since my diaphragm is gone, my body compensates by taxing my neck and shoulders. My neck and shoulder blades pick up the breathing job of the diaphragm. There’s scapula winging as a result, where the shoulder blades stick out in the back.

At first, I didn’t understand when doctors said the little muscles between the shoulder blades get strained first. Now I get it. When I pick stuff up or try to grab eyeglasses or the remote, those muscles between the shoulder blades matter, and I can feel the weakness there in the shoulder socket in addition to the weakness in my arms.

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How was it in your 30s and 40s?

The progression of my diaphragm challenges was a gradual thing. Though I was never able to do situps and my core was weak, I used to be able to swim like a fish. Then I would tire out a bit more quickly with heavy breathing. I wasn’t feeling a full exchange of air.

I was diagnosed with Pompe disease when I was 37. However, I was put on a BiPAP machine early on, because in my 30s, prior to my diagnosis, I was initially being looked at as if I had Lou Gehrig’s disease, or ALS. So they were treating me like I had something directly neuromuscular. I got more respiratory doctor attention. I saw so many doctors that it definitely helped me become a careful “hypochondriac” anytime something felt off.

I remember one day at the doctor’s office when I saw a guy relaxing on a park bench outside the window and I thought, “I wish I could be that guy.”

I got used to the pulmonary function test, sitting in [what looked like] an oversized telephone booth, where I’d do a big inhale and then exhale. It was inhale, blow, push, push — like a glorified Breathalyzer.

Looking back, being put on the BiPAP machine early on helped with my quality of life.

Over time, I gradually became tired more quickly. When I’d go fishing, going into the water started requiring more shoulder and neck breathing. When I retired, my breathing still wasn’t terrible. I’d have the vent machine all night for sleep. Elevating the upper torso helped at nighttime.

Season to season, I’d say my warm-weather breathing was OK. In the beginning, I liked cold weather, because it felt like the cold compressed my muscles. Now, cold air muscle contraction makes it a bit tougher. My muscles also get sorer in damp weather. Humidity makes it bad.

Whenever I go somewhere, I have to make sure the BiPAP is there. It restricts traveling, particularly long-distance traveling.

Does anything help you cope with this challenge?

Definitely a focus on mental health. Pompe makes you feel alone. My support system has improved over time. Being able to talk it out, even to one person, versus trying to handle it on my own really helped. Looking back, I didn’t have the self-awareness to understand how helpful and effective it is to be able to talk it out.

I also learned that I have to advocate for myself. One day in the ER, a young doctor said, “Put him on oxygen.” Giving me oxygen is bad, because I don’t have the muscle strength to release the [carbon dioxide], which can cause [carbon dioxide] saturation. I didn’t need extra oxygen. It’s the muscles that control breathing that need support. I remember looking the doctor in the eye and saying, “Look, no extra oxygen.”

Physically, I’m not sure lately what all the suggestions are of things to do or take. So I’m very open to suggestions.

My quality of life and my family and friends are the most important things for me these days. Every decision I make has considerations about Pompe disease, like walking to the dumpster to take out the trash. I love to cook and do homey things these days, so I appreciate small things like going to the store and purposely walking down the aisles I know and enjoy.

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