Woman hopes to educate doctors about rare disease

Imagine going to your doctor’s office with a cold and having to explain to your doctor what a cold is and why you think you have it. Imagine your doctor, and most of the subsequent doctors you see, telling you that you don’t have a cold because it is just too rare to have.

You have just, to some degree, put yourself in the shoes of Binghamton resident Cathy Clifford. Clifford, 40, has been living for close to a decade with “von Hippel-Lindau,” or VHL, a rare genetic disorder, which causes tumors to form in places in her body that have a high blood flow. Clifford said it took about 10 years, and a long line of doctor’s visits, for a puzzled doctor to think she might have the rare condition.

Clifford had surgery for kidney cancer in 1994, as well as a 1996 surgery to remove a cancerous brain tumor. All told, Clifford has had 22 tumors.

Clifford doesn’t want anyone in the Southern Tier of New York State to experience what she did on the road to discovering that she had VHL. Clifford, who runs the Western New York Chapter of the Massachusetts-based VHL Family Alliance, has sent a letter to local health providers outlining her history and the facts about VHL.

The VHL Family Alliance has declared May VHL Awareness Month.
“Early diagnosis helps us live a full life,” the relentlessly upbeat Clifford said. “Without diagnosis there is no chance of survival.”

According to the Alliance, VHL affects one in 32,000 people worldwide. While the vast majority of people with VHL inherited the condition from a parent, about 20 percent of those affected have a new mutation, meaning no one in the person’s family has had VHL.

The Alliance also said the child of a person with VHL has a 50 percent chance of having the condition.

For Clifford, the road to discovery began when she was 17. She began going through debilitating spells of dizziness and seemingly out of nowhere, lost the hearing in her left ear. Clifford also had vision and digestive problems.

“I was told there wasn’t a disease that affects the ears and eyes like that,” she said.

Local doctors told Clifford many of her problems were linked to stress and could be treated with therapy. When her father died of congestive heart failure, and it was later discovered that kidney cancer had spread through his body, she knew something was definitely wrong and she was determined to find out what it was. Clifford, to this day, said she is 90 percent positive her father had VHL, and that many new cases of VHL aren’t discovered until an autopsy.

Ten years later, Clifford is preparing to join 600 other VHL patients at the National Institute of Health in Washington, D.C., where she goes about every six months to check on existing growths and find out if there are any new ones. Clifford is confident a cure for the condition will be found, at the genetic level, one day.

“They’re so close,” she said optimistically. “All I know is if I hadn’t been aggressive I wouldn’t be here today.”

Clifford isn’t sure how her open letter to the local medical field will be received. But if it helps doctors discover that even one other person in the area has the same condition, it will be worth it, she said.

For the meantime, Clifford urges anyone who goes to a doctor’s office to be thorough in finding answers, as well as paying attention to their own medical condition and history.

“When you go to a doctor you have to tell them everything, not just why you’re there that day,” she said.