CREST Syndrome
Sometimes one unexpected event can lead to a series of surprises. That was the case for then 9-year-old Lauren DeMarco, who was thrilled to see snow for the first time in her hometown of Mobile. But nature’s surprise came with an unforeseen twist. “When I walked outside my hands turned bright purple,” said Lauren, now 16. “They started hurting and went numb. I didn’t know what was going on or what to do.” Lauren’s hands remained blue for three days. A visit to the pediatrician ended with a trip to the rheumatologist, who diagnosed her with CREST syndrome, a rare and incurable condition that is an acronym for its five main features – calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia. At the time, Lauren was specifically suffering from Raynaud phenomenon, but within the next few months, she suffered from all five. “In addition to my hands turning blue whenever they got really cold, I had spots of calcium on my elbows and knees just protruding out of my skin, and my skin started getting really tight,” Lauren said. “I was also dealing with atrophy in my hands and the blood vessels in my face being very prominent.” Lauren’s rheumatologist prescribed her oral medications and referred her to Children’s of Alabama to continue treatment. At Children’s, Lauren saw pediatric rheumatologist Randy Cron M.D., PhD, who put together a plan to fight the disease with intravenous infusions. Within two weeks, she had her first infusion at Children’s rheumatology clinic and infusion suite, and soon received a second infusion. “I can’t say enough about the doctors and nurses at Children’s,” she said. “As a kid it’s scary being in the hospital. I remember being so scared, but the nurses were so kind and generous and supportive to help me get comfortable. Children’s is such a positive atmosphere.” While Lauren continued to battle CREST syndrome, it was discovered the disease caused interstitial lung disease, meaning Lauren’s lungs were constricting and tightening. “I also ended up with arthritis,” she said. “It was very disheartening. But they added a couple of other infusions to try to help. One was experimental at the time, but was believed to potentially help the lung disease by relieving some of the tension and various symptoms.” After years of making the trek from Mobile to Birmingham for infusions, Lauren now receives infusions closer to home. She still takes daily oral medications and visits Children’s to see Dr. Cron. Her lungs are no longer showing signs of disease. “My CREST syndrome hasn’t gone away, I know it probably never will, but it is a lot better now,” she said. Lauren’s condition has improved to the point that she plays the trombone as part of the Pride of Baker Marching Band at her high school – something she never thought was possible. “With all of the physical activity required for it, I never thought I’d be able to actually do it,” Lauren said. “It’s still a struggle for me sometimes, but I’m thankful to be able to do something I enjoy so much. And I’m so grateful to everyone at Children’s who has helped me get so far.”
