The Long Road to Diagnosis

A few months before I was born, my father, Joseph, was diagnosed with a benign cerebellar tumor. The surgery that followed was successful, and Joseph was led to believe that he was cured for life. However, another tumor appeared twelve years, and he had to go through surgery once again. Unfortunately, Joe passed away a few days after the procedure.

No one ever suspected that Joe's illness was a genetic disorder until I became sick at the age of fifteen, in 1980. The similarity to my father's symptoms alerted the team of neurologists, and further testing revealed that the cause was von Hippel-Lindau disease.

Six years after that first brain surgery, I started having problems again, but this time with swallowing. I consulted the best ear, nose, and throat specialists. Even though I had already been diagnosed with VHL, doctors focused on the specific problem area and were unable to find a cause to my disorder.

After six months of misdiagnosis -- including a throat biopsy! -- the frustrated specialists referred me to a neurologist for muscular dystrophy testing. The tests came back negative, but a subsequent MRI of the head revealed that a tumor located in the brain stem was applying pressure on the swallowing nerve. Once that tumor was removed, all existing symptoms disappeared.

Unlike my father, who was never aware of his condition, I finally realized the importance of preventive screening and early detection. I have been monitoring my health faithfully with a team of doctors for the last ten years, and meanwhile living a very fulfilling life.

Originally from Montreal, Canada, I moved to Tucson, Arizona, in 1993 to work as the marketing directory of Stock Search International, a company specialized in finding the valud of old stock and bond certificates. I met Lisa, my partner in life, while hiking in the mountains of the nearby Sonora desert. Needless to say, we enjoy the outdoors as much as when we first met, and are often seen back-packing together in the surrounding mountains. By looking at me, you would never believe I had had three brain surgeries, one eye surgery, and two partial nephrectomies, the latest only a few weeks ago.

Most doctors hear at least a paragraph or two about VHL in medical school, but few have met or recognized a patient with this rare disorder. Since every patient can experience different symptoms, this genetic disorder is frequently misdiagnosed. Along with my wife and mother, I have recently formed the VHLFA Chapter in Arizona, which held its first annual seminar in Tucson in November. Dr. James M. Lamiell, Clinical Investigation Regulatory Office, U.S. Army Medical Center and School at Fort Sam Houston, Texas, gave a fascinating presentation on the history, symptoms, diagnosis, management, and genetics of VHL, with a discussion of specific cases, current research, and future prospects for VHL.

We also prepared an informational "VHL Desk Calendar" to increase awareness of VHL throughout the community, and to raise funds for research. Lisa and I appeared on four different TV segments, one radio show, and were also featured in two newspaper articles. By doing so, we located three new VHL families and introduced them to the Alliance. Previously left to themselves, they are now well informed and understand what this syndrome is all about! Our fund-raising efforts were also successful, as we realized that people support causes for which they have a strong emotional bond . . . Do not underestimate your friends and family!

We strongly believe that, with the global fund raising efforts of the Alliance, VHL patients like myself can now hope for a cure in the foreseeable future. By the end of this century, VHL may well be as manageable as diabetes is today. Current research is progressing toward a drug that will constrain tumor growth and minimize the need for surgical intervention.

Lisa and I invite each of you to get involved in your own local community. reach out and share your experiences with others. This will expose them to the reality of VHL and help us raise the funds desperately needed for research. If everyone puts one foot forward, we will advance our cause and improve the world for ourselves and for the next generation!

As published in the VHL Family Forum  5:1, March 1997. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

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