She has Von Hippel-Lindau disease, a hereditary condition that causes tumors to appear throughout the body. When she takes calls for the VHL Family Alliance’s patient support number, people often can’t help asking her age.

"They’re amazed how old I am — that I’ve lived this long with VHL," 57-year-old woman said.

The sense of amazement is due to the disease. Since it’s often hereditary, many patients have seen what it can do to their parents and family members.

"A lot of times their grandmother died at 29, their mom died in her late 20s and now they’re in their middle 30s and everything is falling apart," Peggy said.

Chances are the person’s grandmother and mother didn’t know they had VHL and didn’t get proper treatment.

Peggy, who has served in many leadership roles with the VHL Family Alliance since 1994, is committed to spreading the word about VHL so others can get an early diagnosis and a better chance of living a normal lifespan.

"If caught early, the tumors can be kept in check," she said. "If you don’t get treatment, then the tumors are free to cause more damage."

Family history

The VHL Family Alliance estimates one in 32,000 people have the disease. Because of its hereditary nature, the disease usually affects whole families, not just individuals. However, not all cases of VHL are hereditary.

VHL holds few surprises for Peggy. Her mother died with the disease. Her brother, two sisters, two nephews, daughter and granddaughter have also been diagnosed.

"My mother knew she had VHL when she died. But when she died in 1982, we had not met anyone else with VHL," Peggy said. "Mother had a lot of guilt because she had four children with the disease."

Peggy’s husband, Don M., said a parent with VHL has a 50-50 chance of having a child with the disease.

"It’s not like you have two children and one will have it while the other doesn’t. It’s like flipping a coin with each one," Don M. said. "In my (mother-in-law’s) family, four out of five of her children got it. That’s 80 percent of her children."

When a baby is conceived, the dad provides one set of genes and the mom provides another. Healthy people generally inherit two healthy copies of the VHL tumor-suppressor gene.

"Peggy is missing one. If something happens to the other gene, the tumors will grow," he said. "Most of us have two soldiers fighting a battle for us, but people with VHL only have one soldier."

Information "underload"

The family hasn’t always been this informed. Like many people with VHL, the illness went undiagnosed for years.

Peggy’s sister was diagnosed with glaucoma as a child and her eye was removed. The family now knows VHL caused a tumor in the eye.

"The eye does go into glaucoma when the pressure builds up," said Peggy, who also lost an eye due to complications of VHL. "It wasn’t a total misdiagnosis with my sister. They just missed why it was glaucoma."

Don M. said misdiagnosis has been a common problem because VHL is not widely known.

"Peggy has seen specialists and said, ‘I have Von Hippel-Lindau disease,’" he said. "They said, ‘Excuse me’ and left for a while. We know what they were doing. They were going to look it up."

Part of the VHL Family Alliance’s mission is to educate family doctors about the illness.

"The biggest problem we have is underdiagnosis," Peggy said. "It often takes family members telling their doctors, ’My mother had brain tumors in her 30s and I have brain tumors in my 30s. Where’s the connection?’"

Hope for a cure

Treatment for VHL involves treating the individual tumors as they’re discovered. That generally means surgery to remove or at least neutralize the tumors.

Their daughter, Tammy, has had five brain surgeries and still has tumors and cysts throughout her body.

"I have six brain tumors now," she said. "I still have little headaches."

Tammy also has a permanent partial disability in her right arm and hand that resulted from a 1991 brain surgery.

Families facing this disease hope for a drug that will destroy tumors without the need for surgery. Research in that area is ongoing, but there’s no telling when such a beneficial drug could be available.

The good news about VHL is it has attracted a lot of attention from cancer specialists, according to Joyce Graff, a founding member of the VHL Family Alliance.

"People might wonder why we study a rare disease that affects a small number of people," Graff said. "I like to think the good Lord left us clues to solving the larger problems that we can find by studying these rare diseases."

Researchers are very interested in the tumor-suppressing gene that causes VHL.

"Research into VHL is helping to unlock the secrets of cancer for everyone," Graff said. "It turns out that 80 percent of all kidney cancer is caused by a change in the VHL gene, so researchers are interested."

Since it was founded in 1993, the Alliance has raised approximately $215,000 for research.

Don and Peggy have been a part of that effort and are determined to press the issue and fight VHL the best they can.

"It’s not so much for me, but for my granddaughter," Peggy said. "We want to stop this for her sake."

As printed in the VHL Family Forum 10:3, September 2002. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org.