Three days before Halloween in 2010, Donna O’Sullivan had the scare of her life. She was in the office of a Center City pulmonologist seeking treatment for scleroderma.
Getting the right diagnosis and the right doctor had been a difficult journey. The Havertown resident had been misdiagnosed with lupus, then anemia. She eventually ended up in that pulmonologist’s office, which was almost the right place. The emergency room was where she really needed to be.
On that day, O’Sullivan’s body went into full revolt. Struggling to breathe, O’Sullivan watched her skin turn milk white. Then she started convulsing.
The pulmonologist sent O’Sullivan to Jefferson University Hospital, the closest ER. When a nurse tried to take blood, her arm turned black. Her oxygen levels plummeted and she had only seven units of blood in her body, less than half the normal amount. “My husband said, ‘Give her my blood, give her my blood,’ but our blood types don’t match,” she recalls. “At some point, I just collapsed.”
O’Sullivan had “watermelon belly,” a side effect of scleroderma. “The disease can cause blood vessels to dilate inside the stomach, bowels and elsewhere,” says Dr. Nora Sandorfi, a Penn Medicine rheumatologist and scleroderma expert. “When those vessels bleed, they look like red watermelon, with black seeds being the blood.”
Sandorfi eventually became O’Sullivan’s physician, but only after she spent six months recovering from a laser procedure that stopped the bleeding inside her stomach. Once discharged, O’Sullivan tried to adhere to treatment protocols for scleroderma, but physicians gave her incomplete information that worsened her symptoms. Desperate, O’Sullivan turned to the Internet. “I spent months doing research and going to online support groups,” she says. “I got off my pity potty and took control of my medical care.”
That phenomenon is all too common with scleroderma. “Patients become the experts, because scleroderma manifests differently from person to person, making it difficult to diagnose,” says Kerri Connolly, national director of programs and services for the Scleroderma Foundation. “There isn’t one test that diagnoses scleroderma, and there isn’t one path that it takes. The lack of predictability is often difficult to manage, which is why patients really come to support one another.”
The Scleroderma Foundation’s online community has more than 40,000 members sharing experiences and advice. O’Sullivan became one of them. She was a member of the Delaware Valley chapter and is on the board of directors of Project Scleroderma. “This disease is hard on our bodies, and it’s just as hard on the people who love us,” O’Sullivan says. “My family has been through hell watching my pain and being afraid of losing me.”
O’Sullivan’s tenacity has paid off. Through her research, she found Sandorfi. “She saved my life,” O’Sullivan says. “The first thing was providing a thorough education, so I could be an informed patient.”
The disease’s real name is systemic sclerosis. Scleroderma, medical slang for “thick skin,” is a painful condition caused by collagen overproduction. Another symptom is vasculopthy, in which inner layers of blood vessels become thickened, altering blood flow. That leads to a host of problems, including Raynaud’s disease, which turns extremities blue or white. Joint pain and digestive issues like GERD are common, too.
As with many autoimmune diseases, scleroderma’s cause is unknown. “There may be an environmental trigger, like stress or an infection, or a genetic predisposition that we’re unable to specify,” Sandorfi says.
The good news is that the array of symptoms can be treated with blood pressure medication, aspirin, antacid, dietary changes and immunosuppressant therapy. Still, there is no cure—and living with scleroderma takes a heavy toll.
O’Sullivan hopes that talking about it will raise awareness of this rare and frequently misunderstood disease. “People with chronic illnesses aren’t faking being sick—they’re actually faking being well,” O’Sullivan says.
These days, O’Sullivan manages her scleroderma with a variety of treatments. “I’m not a victim—in fact, I’m one of the lucky ones,” she says. “My disease could take a turn. But until that happens, my glass is half full.”