My Life with VHL

My name is Erika. I was born on 14 December 1958 and I grew up with my older sister Vreni in Arth-Goldau, Switzerland.

At the age of 15 I suffered sudden profound hearing loss in my left ear. At that time, my doctor was unable to determine the cause. He told me it was "a minor loss." He said that I still had one ear, and that should be enough. I can still remember how shocked I was that my problem was to him just a "minor" loss. For me there was nothing more to do at that time. I would not be handicapped by deafness on only one side. I could continue my life normally with it.

When I was 28, in 1986, I had the first of many disturbances in the hearing in my right ear. On my mother’s side of the family there had been many kinds of tumors, but no case of hearing loss. One uncle in 1986 was told that he was being treated for von Hippel-Lindau (VHL), but there was no hint that it was a familial condition. My mother went blind at the age of 18, and at 35 was paralyzed on one side. She had brain tumors, but more is not known. She died at age 50. As children we knew nothing more than that our mother was ill, but she was strong and independent! To this day she is still a great example for me of humor, courage, and strength. But in those days there was practically no information available about VHL. No one imagined that we children could have this disease. It is amazing to me to see how much has been learned about VHL in the last two decades -- how much information is available to us today.

Health problems appeared for my sister Vreni and me about the same time. Vreni had a brain tumor, which could only be partially removed. For me, a tumor appeared in the petrous bone on the right side, near my hearing ear. In both our cases, the doctors rejected a diagnosis of VHL. Vreni was only 34 when she died, leaving three children behind. After that it was clear to me that there must be a relationship among our medical conditions, and I began my quest.

I got no help at all from the doctors. None of them had any ideas. One even said to me that any relationship was impossible and there were no similarities in my family -- that each occurrence was completely different and unrelated. In my case, my illness was taken care of, and I would be fine from here on. I truly wanted to believe that.

But I was now deaf.

Soon after I lost the last of my hearing, I was able to get very good lip reading lessons, and from the beginning I learned lip reading easily, so my communication is fairly smooth. However, I for a long time I did not accept being handicapped. On the outside I seemed content, but inwardly I was not. I even had thoughts that this is not the life I wanted to live. But I knew I had to come to terms with myself.

I continue to cover it up, glad to be alive. But I have to come to terms with myself and my revised set of abilities.

I believe that each person who becomes deaf has different feelings about it. Everyone has a different reaction. It takes mental strength, an inborn optimism, a talent for lip reading, an ability to visualize, and hope, to deal with this fate.

Deafness may not come all at once. In the beginning it may improve. Then suddenly it becomes final. "Your hearing will never improve." It was again a shock for me. And who is responsible? Who is to blame? No one can be blamed for this.

Today, with better understanding of these endolymphatic sac tumors and petrous bone tumors, and with early intervention, it is usually possible to save the hearing. But it is only in the last five years that this information has even existed, and then only if you look very hard to find the right expert.

I have VHL. A very good family friend finally helped me get a clear diagnosis in 1997. He learned about VHL on the internet and located Professor Neumann, and everything finally became clear. I finally learned that my illness did not occur by chance, and that is has a name. Moreover, great progress has taken place in its treatment: genetic tests, information about the changes in my gene, recommendations for screening and early intervention to prevent disabilities like mine.

Through DNA analysis we learned that my two children have VHL, and two of my sister’s three children are affected as well. I know I have to learn as much as possible about it to help them. They should never have to go through the bitter experiences of my mother, my sister, and myself. Many mistakes were made due to the inexperience and arrogance of the doctors. I can’t help saying this frankly because it is so. My rage about this will take a long time to subside. And I know that I have to play an active role in the future.

For me, it is enormously important for all people affected by VHL to be located, so that they can get the advice and help they need to manage their health. Presently here in Switzerland the situation is not the best. We have good ordinary clinics and radiological institutes. Unfortunately, however, it is true here as everywhere in the world that we people with VHL must struggle for ourselves and must know more about VHL than most physicians. It is still very difficult to find the right clinic and the correct treatment. Even though Freiburg in Germany is only thirty miles from the Swiss border, treatment there is not covered by medical insurance. That is a serious problem for us. We are forced to put our trust in the physicians available to us, even though we do not know how much he knows about VHL. And we have to know when to press for better answers, and help the doctors get the advice they need to serve us better.

Many things have already happened to me, and I have had many operations. Many things still lie ahead for all of us. But who knows the what is going to happen? We need to know how to watch out for the possible issues in VHL, and to work with the doctors to find the best treatments and medicines. We should not allow ourselves to remain in a state of confusion -- by sharing information and working together we can help ourselves and all people with VHL.

We must try to live with it, adjusting to our fate. It is important to make adjustments as we go forward, and not give up. It is a great challenge, and all of us must be strong and courageous in the face of this and all the other challenges life will bring. I am very glad to have found so many caring people in this community. That is what makes up the VHL Family Alliance -- the many people with VHL, and the physicians and researchers who are working and studying to make the future for us as comfortable as possible. Many thanks to all who have contributed anything to the great success of the Alliance.

In closing, I thank the researchers and the many health care professionals and technicians; especially Professor Neumann who is always there and always has time for us; the physicians, and each and every one who has contributed to easing our lives. It would be wonderful if all mankind could have a better understanding of people who deal with illness and handicap, and who are trying to live out our lives happily and free from worry.

Erika is a member of the German-speaking VHLFA and our contact person in Switzerland. She is an active member of the German language online discussion group of the VHL Family Alliance, vhl-de@yahoogroups.com.

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