TRAPS Patient Says, “You Can’t Give In”

Growing up, she thought it was normal to feel sick to her stomach all the time.

But she knew that in other ways she wasn’t like the rest of the kids, suffering as she did from high fevers and muscle pain that prevented her from playing outside with the others.

“I tried to be like them,” Renee said.

Now 52, the Lansing, Michigan, woman remembers doctors treating her for pneumonia and stomach aches. But none could solve the riddle of her painful and ongoing symptoms.

“I have the symptoms of 10 different diseases,” she said. “I was tested 32 times for lupus.”

Things changed when her brother got involved. David Shelton is a genetic research engineer who in 1996-1967 was working at NIH with two pioneering researchers, Dr. Francis Collins (now NIH director) and Dr. Daniel Kastner, to study a periodic fever disease known as TRAPS.

The acronym stands for Tumor Necrosis Factor Receptor Associated Periodic Syndrome. “It is really hard to diagnose,” Renee said.

TRAPS is clinically defined as an “autosomal dominant multisystem disorder,” meaning that one parent has a genetic abnormality on a non-sex chromosome that affects multiple sites at one time.

When the marker for TRAPS was discovered in 1997, Shelton was named in the journal article. Ironically, he himself has the disease. His and Renee’s father is an asymptomatic carrier.

Recognizing that Renee might also be afflicted, Shelton arranged to have her tested for TRAPS at NIH. Her blood was drawn and sent to the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The tests came back positive. This was in 2002.

Renee’s first thought was that she could beat the diagnosis: “I’m strong. I can do this.” But when she was in so much pain she couldn’t get out of bed, she knew she had to go to NIH.

There, doctors started her on Enbrel, a drug given intravenously that is a primary treatment for rheumatoid arthritis but one that has been used with success in treating TRAPS. “It’s made all the difference,” she said, noting that she takes injections three times a week.

Renee and her husband, Tim, have two grown children. Her son, David, has TRAPS, but not her daughter, Monica.

Renee works for Lenscrafters as an optician and says she tries hard “to be independent. I’ve always worked. You can’t give in. I watch other people [with the disease], and they become bitter and angry.” She’s been taking flights to NIH for seven years, paying for airline tickets herself.

But last year, she was unable to afford a ticket. Marita Eddy, transportation coordinator at NIH for Mercy Medical Airlift, arranged a round-trip flight for her and Tim.

“It was incredible. I couldn’t believe how these people stepped up,” Renee said.