The Secret

Von Hippel-Lindau (VHL) was a secret word in our family for years. We believed if we didn't talk about it, it would go away. Unfortunately, that left us very uninformed.

My father, Rudy, was the first of our family to be diagnosed with VHL. His first brain tumor was removed at age 22. The surgery was performed in 1942 at the Mayo Clinic in Rochester, Minnesota. My father experienced total blindness and severe headaches days before surgery. During the 1950's another inoperable brain tumor was found at the stem of his brain. Our understanding at the time was that the second tumor may have been caused by not fully removing the first. Now that we know more about VHL, it is more probable that this was a second tumor. VHL tumors of the brain do not spread from one location to another. Doctors now believe that each one grows from a single defective gene. Complications from the second tumor caused my father's death at the age of 52 in 1967.

Rudy was the father of five children, four daughters and a son. Two of the five children have been diagnosed with VHL -- myself and my sister Mary. My oldest sister and younger brother have yet to be tested.1 Tests on my younger sister have proved negative.

Mary, the second child, died of a brain tumor at age 22 in 1962. At the time of her death Mary was pregnant with her fourth child in four years. Due to the pregnancy her symptoms, such as fainting, were not identified as VHL. Mary's three daughters have all been tested, and only one has VHL.

Mary's oldest daughter MaryBeth had a tumor removed in 1975 at the age of 16. Her first symptom of VHL was headaches. As her tumor grew, she experienced spells of vomiting, fainting, and blackouts. MaryBeth has two young daughters who have not been tested for VHL.¹

My first symptom of VHL was extremely sensitive teeth. This was followed by an disturbance of my equilibrium. At that time, doctors attributed the symptoms to a different disease which had taken 70% of my hearing in my left ear at age 21, so they referred me to an ear, nose, and throat specialist. They decided to do a CT scan and it was then that a brain tumor was discovered. I had the tumor removed in 1982 at age 39. Since the operation doctors have found tumors on my cerebellum, spinal cord, and eye. The tumor on the eye was treated in August 1992. In addition to the tumors, doctors continue to monitor cysts on each kidney.

I think of myself as a healthy person and try to keep busy all the time. I enjoy my job, my co-workers, and my family.

I have two children. My daughter Carmen has been tested and shows no signs of VHL. My son Chad was diagnosed with VHL in the spring of 1985. He began experiencing headaches in the fall of 1984. We attributed them to growing pains, as he had grown an inch a month for fourteen months. The headaches persisted. Due to our family history, I scheduled a physical to have Chad examined for VHL. The seriousness of his case grew quickly. On Monday March 29 he experienced flu-like symptoms along with the headaches.

By Wednesday he had increased pain in his head. We scheduled a CT scan for Thursday. I called the doctor immediately Friday morning because the pain in his head was more severe and he began vomiting uncontrollably. The doctor identified a brain tumor from the scan. Chad was rushed to Children's Hospital and given medication to reduce the swelling around the brain caused by the tumor.

On Monday doctors removed two large tumors from Chad's cerebellum, one from the right hemisphere and one from the left. He recovered quickly from surgery and returned to school in two weeks.

Chad did not experience any additional symptoms of VHL until the fall of 1991. He had difficulty seeing the blackboard in school. His optometrist found tumors and referred us to a specialist. Chad had eight lesions in his left eye and three in the right eye. He has been treated with laser treatments.

Although the laser treatments have been effective in controlling the lesions, Chad will have permanent retina damage that is not correctable with glasses. The doctors have since found additional tumors on Chad's spinal cord and brain. We now make sure we have regular checkups, to reduce the number of surprises and minimize permanent damage.

For years I have been searching for information on VHL to give to our doctors. Our goal is to make all those as uninformed as ourselves recognize the signs and symptoms of VHL. We have learned that we must become advocates in our own personal and family health care. I am excited to listen and learn from all families in order to learn from their experiences. I would greatly appreciate any information from other families and from doctors. I would also like to thank everyone for their involvement in the VHL Family Alliance and for taking the time to help us all.

1. The VHL Family Alliance strongly urges family members at risk to have regular check-ups.  Experience has shown that it is best to deal early with VHL issues if you want to avoid permanent damage.  Family members can best determine whether they carry the VHL gene through DNA testing.