A happy life, thanks to the Internet and research...

The history of brothers Pierre and Paul B., both affected by von Hippel-Lindau syndrome, a very rare hereditary condition poorly understood by most doctors, can encourage those who feel alone with their health problems...

Several years ago, Paul, a resident of Dollard-des-Ormeaux, a suburb of Quebec, to his great astonishment found a web site dedicated to von Hippel-Lindau (VHL) on one of his first excursions on the Internet.  This discovery and the information he discovered led his brother Pierre to make contact with the prestigious National Institutes of Health (NIH) in Bethesda, Maryland, where they saved his kidneys and, at the same time, saved his quality of life.

Today, it's Paul's turn to take the road to NIH, as you will see in the following article.

"Everyone I've met at NIH has had the same reaction," says Pierre.   "While one feels odd or like a guinea-pig in our home towns, one finds at NIH an environment where everyone is interested in von Hippel-Lindau.  For the first time in my life, I didn't have to explain VHL to the doctors!"

Von Hippel-Lindau syndrome manifests itself by non-cancerous tumors of the retina, brain stem, cerebellum, kidney, pancreas, liver, or adrenal glands, as well as cancerous tumors of the kidneys, symptoms which can all seem like isolated issues.

It was only in 1979 that a neurologist at Sacred-Heart Hospital, Dr. Guy Remillard, proposed the diagnosis "von Hippel-Lindau" for the B. family, after having examined Pierre.  By that time VHL had already caused the death of his father, his paternal grandfather, and two of his uncles.

Pierre had some loss of balance, troubles with his vision, and headaches . . . which his family doctor attributed to a bad virus.  "I was fifteen and my father had died three years earlier.  My mother, Micheline, was reliving a nightmare.  She insisted that I go to the hospital."

The medical scans revealed a tumor the size of a golf ball in the neck.  As soon as the tumor was removed, in February 1980, the symptoms disappeared.

Learning that it was a hereditary problem, Micheline and her children understood that many members of the father's family were affected.

"At that moment we realized that all of us -- children and cousins -- all of us were at risk," says Danielle, the sister of Pierre and Paul.  "Paul and I decided to get checked by specialists."

"If a person is diagnosed in time, they can have themselves followed a treated before there is damage," explains Micheline.  "They can have a normal life.   If my husband had gone through the same experiences 20 years later, he would not have died."

In 1986, there was a new alert for Pierre, who found himself with difficulties swallowing.  A ear-nose-throat specialist could find no clear cause for his difficulties.  Six months later, a neurologist found a tumor of the brain stem, which was pressing on the nerve for swallowing.  They operated, and he was soon back in good working order.

In 1992, Pierre lost the sneezing reflex.  This time, he was beginning to understand the drill: a new tumor of the brain stem.  Dr. Michel Bojanowski, of Notre-Dame Hospital, removed the tumor, and at the same time removed a very small tumor in the cerebellum in the course of the same operation.

Also in 1992, Dr. Gilles Marcil of Notre-Dame Hospital, removed with cryosurgery some very small angiomas from the optic nerve.  "I was examined by about 15 students," says Pierre.  "For them I represented the 'chance of the century' to see real angiomas like they read about in their books."

Between 1993 and 1995, Pierre traveled often in the United States for his work.   Since 1988 he had known that he had tumors in his two kidneys, which they were following twice a year.  But in 1995, the tumors grew and both the Canadian and American doctors felt that they should remove both his kidneys.

Discovery on the Internet

That same year, Paul discovered on the Internet the VHL Family Alliance in the United States (founded in 1993).  Speaking with the chairman of the association, Micheline learned of the existence of a research protocol at NIH.  Pierre sent them a copy of his medical report.  They replied that the tumor should be removed, and invited him to join the program.  "An invitation one can't refuse," states Pierre.

In September 1996, doctors at NIH removed 32 small tumors from his right kidney, an operation that took 12 hours and permitted them to save 80% of his kidney.  In January 1997, the first kidney having fully recovered, they removed from the left kidney another 40 tumors, the equivalent of 10% of his kidney.  Whew!  The specter of dialysis was avoided.

"I consider myself lucky to have VHL at the end of the century," confides Pierre.  "For me, this has been a cheering experience, as if I have been given a new chance with every operation."

Pierre and his wife Lisa want children, and want to try artificial insemination.   "I became sterile because of tumors of the testicles, which sometimes happens in VHL," Pierre says.  "If anything can occur in VHL, I've had it."

Read the full spread of articles on VHL from La Presse, 29 March 1998:

• A happy life, thanks to the Internet and research (above)
• Paul's kidneys will be saved
• An association of 7,500 members
• Research on VHL may lead to a cure for kidney cancer
• Cancer predisposition factors

The French original: Une belle vie, grâce à Internet et à la recherche