Ohio Woman 
Fights VHL Disease

Cari and Siera

When Cari E. was in labor in October, 2001, her blood pressure spiked repeatedly. After giving birth to her daughter, it was discovered Cari had a large tumor on her adrenal gland.

The tumor was the result of Von Hippel-Lindau Syndrome, a genetic condition caused by a dominant gene that leads to an abnormal growth of blood vessels in some parts of the body. Most VHL tumors are benign, but some can grow to be malignant.

In addition to the adrenal tumor, Cari has also had a brain tumor removed. She knows that more tumors are possible because of the nature of VHL.

Cari, an Ohio native who works as an administrative assistant, said the disease is generally not life-threatening, but she will likely develop more tumors.

"The key to living with this is early detection," she said. "I will have to go through yearly CT scans."

Cari, 27, said she believes she inherited VHL from her mother, who died from a brain tumor in 1982, and there is a 50 percent chance her daughter, Siera, has inherited the disease.

"We’re going through genetic counseling at the Cleveland Clinic to see if my daughter has this disease," she said. "It was once considered rare, but now we know it’s not so rare. There are thousands of people with undiagnosed tumors."

According to the VHL Family Alliance, the disorder is more common than previously thought. More people are now diagnosed in time to help because of the use of more sophisticated imaging techniques, such as Magnetic Resonance Imaging. MRI is used to produce high quality images of the inside of the human body.

"[VHL is] one of many recently recognized and described genetic diseases that predispose people to cancer," said Dr. Steve Roshon of North Coast Cancer Center of Sandusky, Ohio. "It’s fairly rare, but the scientific interest is huge, especially among those who are in genetic research."

Cari, her family and friends planned and held a series of fund-raising events to raise money for VHL research.

"Research is confident that there will one day be a pill which will suppress tumor growth," she said. "The money will go to the VHL Family Alliance."

VHL Family Alliance, Brookline, Mass., is a non-profit organization, dedicated to the diagnosis, treatment and quality of life for people affected by VHL.

The first event was a benefit day at D.J.’s Sports Bar in Sandusky. Area bands donated their time, including TwoTheMax, Funk ‘n Bluez, Dave James, Pete Bernel, Island Fever, Daisy Chain, Surrender Dorothy and Donny G. In addition, Greg Michaels of WNRR 92.1 broadcast live on the radio throughout the day. Area businesses donated door prizes, including Cleveland Indians tickets, Island Rocket tickets and 18 holes of golf for two with a cart from Sawmill Creek. The $10 admission included entertainment, food and participation in a poker run, with a cash prize of $150 for first place.

This was followed by a bikini car wash, which attracted a great deal of attention. And finally, Cari’s dad, Dan P., held a golf scramble.

Altogether Cari, her family and friends raised $6,117 to go toward funding research on VHL. We are all grateful to them for their efforts and join them in hope that by understanding more of what is going on in the cell we can finally get the maintenance drugs we need to keep tumors small, or keep them from ever appearing at all.

Based on an article by Trish Doller, Sandusky Register, June 10, 2002