A rare diagnosis
hits family twice

By Tom Waring
Times Staff Writer

Erica Young watched her mother struggle for years with lupus.
Anita Young found out she had lupus 25 years ago, when she gave birth to her daughter.
The condition is a disorder of the immune system, with symptoms that can include extreme fatigue, painful or swollen joints, unexplained fever, skin rashes and kidney problems.
Anita Young had a severe form of the disease, enduring blood transfusions, chemotherapy, steroids and frequent hospital stays. She died in 2001 at age 42.
"She lived the best that she could," said her daughter, who lives in the Far Northeast. "It takes a lot out of you. If you push yourself, you get sicker."
The disorder can be treated with medicine, and sufferers can lead active and healthy lives, but there is no cure.
It’s a relatively rare disease. Nine times as many women as men have lupus, though it’s difficult to estimate how many people in the United States have the disease because its symptoms vary widely and its onset is often hard to pinpoint.
Lupus can run in families, but the risk that a child or sibling of a patient will be affected is low.
But, unfortunately for Erica Young, she isn’t among the lucky ones. She has the disorder, and a severe form at that.
"At first I was real upset. It totally crushed me," she said of the diagnosis. "I saw what it did to my mom, and I saw her suffer."
A year or so after her mom died, Erica Young started to develop symptoms of lupus. She was tested and diagnosed with the disorder.
Lupus is characterized by periods of illness, called flares, and periods of wellness, or remission.
In the bad times, Young has had chest pains, shortness of breath, joint pain, weakness and trouble walking.
"One minute you can do something, and the next minute you can’t," she said.
In the ensuing few years, the young patient saw a number of rheumatologists and took a variety of prescription drugs. She had surgery to remove her gall bladder. Her condition worsened.
Finally, in September 2004, she landed at Thomas Jefferson University Hospital, her body in shock. Doctors discovered that the lupus was attacking her heart valve. They prescribed steroids — lots of them. Young stabilized, had her heart valve replaced and later fully recovered.
"I came as close as you possibly can to dying," she said.
Looking back, she credits Dr. Chris Derk with saving her life. She continues to see him on a regular basis.
"Dr. Derk doesn’t just treat lupus. He treats me as a person," she said.
Having experienced her mom’s ordeal and suffered herself, Young has become a bit of an expert on lupus. She notes that the disease kills more people than AIDS, cerebral palsy and cystic fibrosis combined.
Derk, an assistant professor of medicine at Jefferson, said many Lupus patients, especially young ones, are in denial about the disorder. When he speaks in front of the Lupus Foundation, there are few young people in the audience.
As he explains, individuals like Young can look perfectly healthy. But, the doctor explained, they have a lot of needs. He credits Young with moving from the denial phase to acceptance.
Still, there are other patients who don’t have as firm a grasp on the disorder.
That’s why Jefferson is so focused on the disease. Derk is head of the hospital’s lupus clinic, where he trains other doctors in the specialty.
"Our goal is to improve awareness, help people, do research and produce doctors to treat lupus," he said.
Young credits the hospital not only with saving her life, but with her recovery.
"When I was in Jeff, I met and talked to a lot of counselors and therapists," she said. "They made me understand that I have to have a good mindset."
Today, Young is on disability. She sees Derk, along with her primary physician and heart and kidney specialists. Her medication seems to be working, and she’s trying to stick to a healthful diet.
Her personal life is going well, too. She’s engaged to her Baldi Middle School sweetheart, Marty Rotkis, and is starting to make wedding plans.
One fear she has is that she won’t be able to have kids if she is on medication for the rest of her life.
Otherwise, Young is determined to do everything she can to prevent lupus from doing to her what it did to her mom.
"I’m doing OK," she said. "It’s a daily thing. As long as I take my medicine and do what the doctors say, I’ll be OK." ••
To learn more about the treatment of lupus at Thomas Jefferson University, call the Center City office at 215-955-8430 or the Bala Cynwyd location at 610-664-0134.
Reporter Tom Waring can be reached at 215-354-3034 or twaring@phillynews.com