Newly Diagnosed With Late-Onset Pompe Disease (LOPD)? What to Do

What Does Pompe Disease Mean for Me?

Receiving an LOPD diagnosis often brings with it two different — sometimes conflicting — feelings, says Emanuele Barca, MD, a neuromuscular neurologist at NewYork-Presbyterian/Columbia University Irving Medical Center. Because it can take years to be diagnosed, you may feel a profound sense of relief to finally have a name for your symptoms, mixed with the feelings of distress that can come from managing a rare disease, he says.

Heather Shorten, MSW, LSW, founder of the Pompe Alliance, who was diagnosed with LOPD in 2015, recalls that while the news felt scary and sad, it also brought her a necessary sense of clarity. “I was hopeful because now I knew what I had and I could plan for my care,” she says. “I needed to know so I could start planning how I’m going to take care of myself.” And treating your LOPD may take a lot of work.