My father died in 1966. He had had one operation for a tumor on his brain and was in need of another when he died. My brother died in 1969. He too had tumors on his brain. Neither of them had been diagnosed with von Hippel-Lindau (VHL) disease. All I ever remember hearing is that this was probably some condition passed along on the male side of the family. My three sisters and I thought we could put this out of our mind. A cousin pointed out that we still needed to be concerned about any male children we might eventually have. When my sisters had their children, including three boys, this unnamed tumor condition was always in the back of my head.

In 1987 things, for me, had progressed to their worst. I was unable to take one step without holding on and was in a great deal of pain. After spending two months and lots of money with two different chiropractors, treating what I thought was sciatica, an orthopedist suggested I get a CT scan. He immediately referred me to a neurologist who immediately admitted me to the hospital. After two weeks of countless CT scans, MRIs, X-rays and a nine-hour surgery I was diagnosed with VHL in 1988.

By this time, one of my sisters had given birth for the second time. She had some vision loss in one eye which had been blamed on high blood pressure. Once I was diagnosed, thankfully the doctors knew to check several other areas of my body, and suggested that other family members be checked as well. They discovered that I had a tumor on my right retina that if left untreated, could have caused blindness in that eye. It was then that we asked my sister’s eye doctor if what had caused her vision problems could be VHL. He told her "no way." We have since discovered that my sister does indeed have VHL. If her eye doctor had diagnosed VHL years earlier, maybe my own problems could have been caught before they caused paralysis.

One In a Million

Being diagnosed with VHL is a very traumatic thing and I would not have been able to get through it without my husband Fred and my family. Fred and I had only been married three years when I first started feeling sick. We had just bought our first house, I was working in the outpatient department of Newark-Beth Israel Medical Center, and he had recently started working as a trainer for the United Methodist Church. He would drive me to the Port Authority to take the New Jersey Transit bus to my job. I would limp my way home on the PATH train and subway in the evenings. I had not injured myself so I just knew this would go away on its own. But it didn’t.

My first hospital stay lasted three months. Fred brought dinner and ate with me every night. Mom visited during the day, and my sisters visited on weekends. We made a schedule so that their visits would not coincide, and I had visitors and home-cooked food all the time. I believe this aided my recovery.

When my doctor told me I had von Hippel-Lindau disease, and that it was genetic, I thought he had to be mistaken. I thought "Don’t you know soon after you are born that you have a genetic disease?" Worse than that, I was led to believe that I was the only one in all of New York State with this condition. The sense of isolation was intense. I felt hopelessly alone, with only my family for a life-preserver. My doctor told me this was an extremely rare disease. Whenever I would have a test or scan of any kind, lots of medical staff and students would be come to observe. I would be rich if I could have charged admission. I now know of 29 other people with VHL in NY, and I am willing to bet that there are more. This disease is not as rare as people think. VHL affects so many different systems and is so different for every patient that it is easily misdiagnosed or simply not diagnosed at all.

Teaching My Doctors

Since my diagnosis, I have had three more spinal cord surgeries, one craniotomy, and laser surgery on my right eye. My condition is quite stable for now. My major task now is teaching my doctors about VHL and what I need to manage this disease. I have not run across one doctor that has not heard of VHL, but neither have I run into one outside of the U.S. National Institutes of Health (NIH) who knows how to manage this disease. How often do you scan the spinal cord, abdomen and brain? What symptoms do you need to look out for? My doctors and I would be lost without the Patient Handbook published by the VHL Family Alliance.

Then you have those few doctors who do not seem to want to learn. I have not quite figured this out. Are they embarrassed that they do not know everything? Do they think it is demeaning to accept information from a patient? What I want is a partner who is willing to learn from any and all sources.

Whenever I am asked by patient whether to be treated by a "familiar face" or by an expert who may be far from home, I say go to where the experts are. I feel that if I only had known then some of what I know now I would not be in the condition I am in today. My neurosurgeon knew very well how to operate on my spinal cord, but he knew very little about VHL. He admitted to me that he saw a pea-sized tumor during the first operation which he did not remove. A year later it, too, it had grown and was causing pain and damage. After a second spinal surgery, I was paralyzed.

The Family Meets with a Genetic Counselor

Finding the gene was very exciting. There is hope that a cure is not far behind but we have to be realistic. Science has known what mutation causes sickle cell anemia for many years, but there is still no cure. Being able to find the VHL mutation on an individual’s gene is important because it can determine whether that person needs the annual screening or not. It is not a cure and does not change how VHL is managed.

I was diagnosed with VHL in February 1988. My first meeting with a genetic counselor occurred in October 1995. Once I understood that VHL is genetic and that one of my sisters had it, I immediately wanted her two children tested. My arguments were several: you do not want either of them to end up with the damage she and I had experienced. Why not find out for sure and maybe avoid all the annual testing? Wouldn’t having a clear diagnosis bring peace of mind? To these arguments I have received silence. I am no one’s mother, so I am sure I am not seeing things the way she does. I know, though, that she just does not want anything to be wrong with her kids.

The genetic counseling meeting was the first time my entire family got together to talk about this issue. Of my two unaffected sisters, the one who has two children agreed to the DNA test, just to make sure. My unmarried sister did not want testing. She felt, "no kids, no symptoms, why bother?" But there had to be some nagging worries. After a time she decided to be tested, and does not have VHL.

My three nephews and my niece all said that they would want to know if they had VHL. My affected sister said she had to discuss it some more with her husband. More than a year later her only son and oldest child had a brain tumor removed. This pushed my sister to have her daughter’s DNA tested, which has proved positive. Knowing that she has the VHL alteration, they can now do preventive screening and hopefully see problems coming before they turn into crises.

The VHL Family Alliance

When I finally returned home in 1991 after 14 months in the hospital and rehabilitation, I had nothing to do and nowhere to go. I was and still am in too much pain to hold down a steady job. I watched TV, read, knitted or crocheted all day. I was referred to outpatient rehabilitation, and that led me to the International Center for the Disabled. There I am able to heal my spirit and share some of my knowledge as a registered dietitian through nutrition counseling with other clients. Along with several other disabled people I participated in the taping of three cooking videos. We demonstrated assistive devices, healthy cooking, shopping and eating out, all with the disabled in mind -- a first!

In early 1993, I received the first newsletter about the Alliance but I did not contact them. Several months later I received an invitation to a support group meeting in Boston. I talked to my husband and we agreed to spend the weekend in Boston. That was the first time I had ever laid eyes on anyone, other than my sister, with VHL. That trip was very special and it woke me up. Now, as Board Member, NY Chapter Chairperson and member of several different committees, I do some very productive work, mostly out of my home, for the Alliance. I answer the telephone hotline two months a year, and I watch the e-mail info account info@vhl.org.

Many newly diagnosed patients feel that they are facing VHL alone that they are the only one with VHL in their universe. It is very satisfying for me to be able to ease the panic some feel after being newly diagnosed. Doing what little I can do takes my mind off my own concerns and allows me to feel useful and needed, which gives a much-needed boost to my self-esteem and self-worth. Somehow volunteering just does that. I have also attended several cancer conferences. With Fred or another family member, I pack up and go. There I am able to introduce VHL to others. Often these groups have never heard of VHL, let alone seen someone who actually has it. I feel the more we can share ourselves with others, the more likely we are to save someone else from the damaging delay a misdiagnosis can cause.

One goal of the VHL Family Alliance is to spread the word about this disease so that doctors consider it when faced with a patient with unexplained symptoms. I happen to know from answering the hotline and the e-mail account that we are reaching that goal. There are lots of people out there that get comfort just knowing we are close by. Many people that call have never talked to another individual with VHL. They feel just as I did all those years ago. Many of their stories are very similar to mine. I am so very happy that the VHL Family Alliance exists. I do not like to think where I might be without it. I have re-discovered the joy of working with and helping others, as I did when I worked with families as a dietitian. Through the ICID and as nutrition coordinator for VHLFA I use my dietitian skills in new ways.

As printed in the VHL Family Forum 8:1, March 2000. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

mystory