Heather Shorten, of Cleveland, Ohio, was diagnosed with late-onset Pompe disease in 2015. She serves as the executive director of the Pompe Alliance. Heather shares how caregivers, friends, and family can assure patients that their experience is valid.

So the best way to help is to understand that I might have to cancel plans. Maybe we scheduled something a week before and at the last minute I have to say, “I can’t go because I’m tired or I’m in pain.”

So I just need you to understand that it’s not personal. Just today, Pompe is not letting me do the things that I had planned.

This disease affects everybody differently. And so I might not outwardly look like I’m in pain or I might be walking, but I am in pain, and people don’t recognize it. And so then your pain is not validated. I always say, if I’m telling you I’m in pain, that’s because the pain is bad. Because pain is a part of my everyday life. So if I’m telling you I’m in pain today, that’s because it’s bad. And so I need you to validate my pain.

And I think that is probably the least helpful — is not to understand. And I don’t want to say “understand it” because I don’t expect a person to understand it when they don’t live with it. But I need you to be able to be OK with me saying, “I can’t do this today.”