Sophie M. of Bath in England recently ran her first-ever half-marathon. She dedicated her effort to her half-brother and sister, both of whom have VHL.

Sophie and Katherine

Her brother Edward J. was diagnosed with VHL in 2003. Their sister Katherine J., age 31, decided to undergo tests to see if she too had the faulty gene that might increase her risk of cancer. She never imagined that she had cancer.

“It was only because my brother was diagnosed with von Hippel-Lindau Syndrome (VHL) that I had the test. He was the one that was ill and had all the symptoms. He had a benign brain tumor and had to have an operation. Because I was symptom-free I thought I would be fine, I just wanted to know for sure.”

But the DNA test came back positive in August 2004. Katherine then began a marathon of her own, a series of scans to see what manifestations of VHL she might have. Doctors found five kinds of VHL tumors.

“There were two in my pancreas, both were cancerous, one in the adrenal gland and two in my right kidney,” she said.

What followed was serious surgery to remove the tumors from her pancreas and adrenal gland as well as a six month course of drug therapy. She had to have six months off from her work.

The treatment appears to have been a success with recent scans coming back clear but Katherine still has to have further surgery to remove two tumors from her kidney.

“The last round of surgery was just so enormous that in a way this operation doesn’t really feel so bad.”

Father Richard
Their father, Richard M., also ran the Bath half-marathon in honor of his courageous children.

How does she feel about the new research advancements, and about Cancer Research UK’s discovery of how the faulty gene predisposes people to cancer? Katherine said: “It’s really good news especially if the research has implications for other types of tumors as well.”

Throughout the whole experience Katherine and her brother Edward, who still has a spinal tumor which is being monitored, have managed to remain positive. “It’s a huge condition. You do the monitoring you have to do, but you just have to get on with your life -- otherwise it would be too much to deal with. But they are coming up with new things all the time and there could even be gene therapy for it within our lifetimes.”

Sophie wanted to do something special to honor Edward and Katherine and support them in their struggle with VHL. She decided to raise money by running her first-ever half marathon and asking friends to sponsor her run. “I hope that the money can be used for research on VHL, and to help fund the very good work you do.”

-- Our thanks to the BBC News, Sunday, 2 April 2006, for some of the information in this article.

As printed in the VHL Family Forum 14:1, April/May 2006. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.