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.