When E. Rose Schubert first noticed her hands swelling, she thought it was temporary inflammation. But soon realized the swelling wasn’t just fluid and something was seriously wrong. “It became difficult to get caps off things, and I couldn’t even open a lip gloss,” she recalled.
Initially, a routine ANA (antinuclear antibody) test showed a slight elevation, possibly linked to an infection. But her joints locked up while on a trip, raising further concerns. After additional testing, doctors ruled out arthritis, but Rose’s primary care physician had an inkling of what might be happening. He monitored her closely, ordering a follow-up ANA test a month later. The results prompted a referral to a rheumatologist.
Diagnosis
Rose was diagnosed with diffuse systemic scleroderma, a rare autoimmune disease, which is a subtype of systemic scleroderma characterized by skin hardening and organ involvement, affecting approximately 38 to 341 individuals per million worldwide.
Her diagnosing rheumatologist was not a specialist in scleroderma, so Rose sought a second option with a scleroderma specialist at Johns Hopkins University. The JHU specialist confirmed her diagnosis, while meanwhile, her original rheumatologist at Northwestern referred her to the Northwestern Scleroderma Clinic. Her new rheumatologist quickly changed her medication to CellCept (mycophenolate mofetil), a potent immunosuppressant, which took three months to show results. She credits the rheumatologist from Northwestern Scleroderma Clinic with “saving my life.”
Determination Beyond Disease
While waiting for the immunosuppressant medication to work, Rose’s physical abilities rapidly declined. “My hands weren’t working, they were like lobster claws,” she said. “My body felt like it was turning into concrete, my joints locked up, and I was drained.”
Despite the circumstances, she refused to give up. Rose continued working, caring for her family, and getting daily movement. A lifelong runner, Rose continued running at least a mile daily, even when her energy was severely limited. “I only had about 30 minutes of energy each day—I used that time to get in what I could,” she said. “I kept going because I knew movement could save my lung function and heart health.”
Support
Rose’s fierce determination, coupled with prayer and plenty of support from her husband and parents, helped her manage the rare disease. “The first three months were particularly brutal, but I focused on cherishing time with my family, especially my children, rather than giving in to despair,” she said.
Rose also leaned on the stories of other scleroderma patients, though she hasn’t joined a formal support group. “At a medical training event, doctors used me to learn how to assess skin scores, and that’s where I met others with the disease. Their stories were much worse than mine and really put things into perspective,” she said, recognizing her good fortune in being diagnosed and treated so quickly.
Now, her condition has drastically improved. “It’s like it never happened to me. My fingers are still a little tight, but I can play guitar again,” she said.
Awareness and Advocacy
Rose continues to raise awareness and advocate for medical research. “I wasn’t part of the CellCept research, but clinical trials are how we find treatments,” she said. “If you qualify for a trial and the benefits outweigh the risks, don’t think of it as being a lab rat. Think of it as another chance to help move things forward for future patients.”
She also emphasizes the importance of sharing success stories. “When I first got diagnosed, all I saw was death. The people doing well with this aren’t posting about it,” she said. “Your mindset affects how much care you seek. Hope is important.”
Her Future
While she doesn’t seek sympathy, her hope for the future is that others will consider the broader impact of their decisions. “I got a miracle, and I don’t necessarily want people to do anything for me. But I want them to realize that their choices affect more than themselves,” she said.
Reflecting on how friends and family reacted to her diagnosis, she noted a range of responses. “Some people researched everything about it right away. Others avoided the topic entirely,” she said. “When people shut it down, it made me feel like a burden. But seeing how many people cared when I shared my story was refreshing.”
Rose plans to continue teaching, playing music, and traveling the world with her children. “Our family travels every summer for a month. My seven-year-old has already been to 13 countries. I want to keep giving my children amazing experiences,” she said.
Despite Rose’s difficult path, she remains positive and embraces life with renewed purpose and appreciation. “I don’t sweat the small stuff anymore. If something goes wrong, it’s not that big of a deal—I’m alive, and my lungs are functioning,” she said.
