Odd childhood symptoms lead to lupus diagnosis
Alex Moy was a sixth-grader when a series of odd ailments interrupted her healthy, active childhood.
Rashes and mouth sores came and went.
During a piano lesson, Moy temporarily lost her peripheral vision. She said she couldn't see her teacher sitting next to her on the piano bench.
One evening, Alex chose pizza for her report card celebration dinner and then went to bed before the pizza arrived.
"There was no fever and no apparent infection, but something was wrong," recalled Alex's mom, Margaret Moy. "She was constantly exhausted."
A diagnosis of lupus launched Moy, now 19, and her Long Grove family into a new world of treating and living with the chronic, potentially life-threatening auto-immune disease.
Lupus patients can develop fatigue, cardiovascular disease, kidney disease, kidney failure, arthritis and unexplained rashes. Flare-ups can be difficult to reverse, and some treatments have serious side-effects.
Yet, researchers say the future looks hopeful for patients like Moy. New information about how the immune system functions is leading to new potential treatments. Meanwhile, immune-suppressing drugs and other therapies are used to help keep the disease in check, preserving organ function and sometimes putting the disease into remission.
"While it's true there hasn't been a new drug approved for the treatment of lupus in over 50 years, the future is brighter than ever before," said Robert S. Katz, M.D., a rheumatologist and professor at Rush University Medical Center who serves as chairman of the Lupus Foundation of America's medical advisory board.
Making the diagnosis Margaret and Wally Moy say the initial signs of their daughter's illness weren't terribly alarming. "At 11 Alex was a rock solid, healthy, active kid until the end of her sixth grade year," recalled Margaret, an attorney and stay-at-home mother of two. "Early indications that something was wrong included pesky mouth sores which results in numerous trips to the orthodontist for retainer checks, unusual marks on her toes which disappeared and minor rashes and skin irritations."But as symptoms piled up, it became clear something was wrong. Doctors found protein in her urine, and Alex was referred to specialists at Children's Memorial Hospital in Chicago, who ultimately made the diagnosis of lupus. According to the Lupus Foundation of America experts, symptoms of lupus can mimic common illnesses and often are dismissed, with more than half of those with lupus suffering for four or more years and visiting three or more doctors before receiving a diagnosis. Late diagnosis and delayed treatment contribute to poor outcomes and lead to significant damage of vital organs including the kidneys, heart, lungs and brain.The disease affects 1.5 million Americans, with many of its patients developing fatigue, cardiovascular disease, kidney disease, kidney failure, arthritis and unexplained rashes. Ninety percent of those diagnosed with lupus are women and 80 percent develop it between ages 15 and 45."I had heard of it, but really didn't know much about lupus," recalled Margaret, who says the family is extremely active and loves hiking, biking and skiing. "We thought about seeking a second opinion and wondered about treatment and the medications."Those questions were answered as Alex was admitted to the hospital for several days of diagnostic testing, a kidney biopsy and a course of chemotherapy and steroid treatment. The lupus affected the preteen's kidneys. "It was tough, but Alex didn't miss a beat," her mom said. "She did whatever the doctors asked of her and got back to her old self, despite gaining weight from months of steroids."By her sophomore year in high school, Alex had shed the extra pounds, participated successfully with the girls' swim team, became a lifeguard and taught swim lessons. She dreamed of perhaps going into the medical field when she applied for admission to the University of Illinois.When her lupus flared at the beginning of her freshman year, Alex thought she'd bounce back with the help of doctors at the student health services, medication and careful medical monitoring."I never really got back to being 100 percent since that freshman flare," explained Alex, who says the transition to college life and studies was difficult and the stress of final exams meant more challenges. "I knew I needed stress relief and had trouble accepting that I'd need to make changes in my life."Family and close friends suggested yoga, but when schedules became difficult Alex stopping going. Friends, she said, know of her condition, but don't understand its seriousness or complexity."Until there's a cure, I thought it could be managed with lifestyle changes," said Alex, who loves working with kids and now is now looking into a speech therapy degree. She became interested in the field after learning about opportunities from her roommate and others already working in the field and currently takes a sign language class at a community college.She's struggling with symptoms from the latest flare-up, but sees a bright side."After three biopsies I'm glad the lupus didn't go back to my kidneys," she reports. "My labs aren't quite normal yet and my skin is involved in the current flare."Research brings hopeAlex's observation about the disease is on target, according to experts associated with the Lupus Foundation of America, Illinois chapter, who say once a diagnosis is made, those with lupus face many challenges. There is no cure for the disease and current treatments may cause other health problems which can be worse than the primary disease. Currently on the front lines of defense in treating lupus are a variety of immunosuppressive drugs - many which can have serious side effects but may be of great help in prolonging life, preserving kidney function, reducing symptoms and sometimes putting the disease into remission."The immune system is the body's natural defense against disease," said Dr. Katz. "It produces antibodies to protect against viruses and foreign substances, but for those with lupus, these antibodies appear to harm the body's own healthy cells and tissues, leading to inflammation and potential organ damage."Monoclonal antibodies associated with inflammation, he said, have been successful in calming rheumatoid arthritis. It seems they also may be effective for lupus patients."The most exciting implications of research center on minimizing the dose of steroids, which can lead to massive weight gain, high blood pressure, diabetes and other side effects," Dr. Katz said. Yet, the search for new treatments can be frustrating. Katz said that a new experimental medicine to treat lupus, Benlysta, is no longer showing definitive improvement in large scale clinical trials with patients being followed over the long term. Earlier results showed the drug significantly reduces lupus symptoms after 12 months of use. But benefits began to wane after 18 months of use, new research shows. Understanding the role of B cells, which help the body fight infection, is a promising research focus, according to Winston Sequeira, M.D., a rheumatologist on staff at Central DuPage Hospital, Winfield, and at Rush University Medical Center."B-cells are becoming active players in the lupus arena," Dr. Sequeira said. "The exciting news is we have identified the auto-reactive B cell and have many ways to attack this cell to control the disease. Normally B cells are regulated to not react with themselves. For a reason not well understood, they can lose this control and react to the body's own tissues. New information about how the immune system functions is providing insight into the progression of lupus and ways to impede or halt disease activity."According to Sequeria, there is great hope that other new, safe and effective therapies will be available in the near future. "Individuals with lupus have been waiting more than 50 years to hear it is possible to develop therapies to control the disease," he said. <p class="factboxheadblack">More on lupus</p><p class="News">• Lupus is a long-term autoimmune disease that can damage any part of the body - skin, joints and/or organs.</p><p class="News">• Most people have flares (the symptoms worsen and you feel ill) and remissions.</p><p class="News">• With good medical care, most people with lupus can lead a full life. </p><p class="News">• Lupus is not contagious. </p><p class="News">• An estimated 1.5 million Americans have lupus. </p><p class="News">• Lupus strikes mostly women ages 15 to 44. However, men, children, and teenagers develop lupus, too. </p><p class="News">• Women of color are 2-3 times more likely to develop lupus. </p><p class="News">For more information about lupus, visit <a href="http://www.lupusil.org" target="new">www.lupusil.org</a> or call the Lupus Foundation of America, Illinois chapter at (312) 542-0002.</p><p class="News">Source: Lupus Foundation of America</p><div class="infoBox"><h1>More Coverage</h1><div class="infoBoxContent"><div class="infoArea"><h2>Stories</h2><ul class="links"><li><a href="/story/?id=378515">Long Grove mom shares her story of living with lupus <span class="date">[5/10/10]</span></a></li></ul></div></div></div>