My husband András and I are scientists. We married after finishing our university studies in 1966. Since then I have been working at a major university in Hungary. I work as a physicist, and my husband was working in a semi-conductor research laboratory, and later he became the director of a small company dealing with computers, especially designing and building medical imaging systems.

In the spring of 1971 my husband noticed some black stains in his vision. His eye was covered with blood. He was told that it was a blood vessel tumor. He went through two unsuccessful photocoagulation operations in Budapest, and before a third one (which we feared would also be unsuccessful) we made inquiries to find a specialist anywhere in the world. At that time, behind the "Iron Curtain," it was not easy to inquire about other countries, much less to go there. Anyway we learned that Professor Meyer-Schwickerath in Essen, Germany, was the only specialist in Europe who treated this von Hippel-Lindau disease with laser. He immediately agreed to take my husband's case, and in a relatively short time he got permission to travel to Germany. I was pregnant at the time with our elder son Mark. András returned from Germany just before my delivery.

He was told to go regularly for check-ups, which was not possible, but occasionally, perhaps twice in the following ten years, he managed to return to Germany. Luckily everything was okay, and we thought that this problem was solved forever. I do not remember that we were told that this disease was inherited. Perhaps the doctors we dealt with didn't know that then.

So we were living happily, and our younger son Áron was born in 1973.

In March 1987 Áron was often complaining about indisposition in the morning. We went to the doctor but he found nothing, because the complaints were not very definitive. But one day he told us that he could not see well, so I took him to an ophthalmologist, who advised a thorough medical check-up. We turned to our friend, a surgeon at the pediatric clinic. The next day Áron was examined and was found to have a very high blood pressure. First it was thought that he had some problem with his kidneys, and there were some awful days until after an ultrasound examination it turned out that he had bilateral pheochromocytoma, the first time this had been found in a child in Hungary. He underwent surgery.

Then the whole family was checked by ultrasound for pheochromocytoma and both Mark and András were found to have pheos on one side. Mark had a broken arm at the time, and was operated on with his arm in a plaster cast, since because of the high blood pressure the operation was urgently needed. After the operation a slightly higher blood pressure than normal remained, but nobody seemed very concerned.

András had never had high blood pressure, and had no symptoms of the pheochromocytoma, but still had the surgery because we feared that the tumor might become malignant. [We now know that while sporadic pheos often become malignant, the pheos of VHL very rarely progress to cancer. However they do have to be treated promptly to prevent damage to the heart and vascular system.]

Thus in two months there were three operations in our family and thank God all the tumors were benign.

Although the doctors advised us to go for yearly check-ups, we went only after the first year and later not, because the boys were very much against it. They never talked about the operations and hated if someone mentioned it or inquired after their health. We also wanted to avoid the development of an illness consciousness. They seemed to be fine and we were not really forced to go for checkups.

Thus it was very shocking that in 1990, when we spent our summer holidays in Cyprus, Mark felt ill and when we came home and measured his blood pressure it was very high. The CT examination showed a pheo on the same side as before and he was operated again, and again after the operation his blood pressure was not perfect.

The next spring, 1991, he looked unwell, but had no specific complaints. His urine test showed some deviation from normal. I was getting desperate and decided to go to another hospital where they have more experience with pheochromocytomas. Through personal connections we went to Cologne, Germany, where he was thoroughly examined and it was found that he had a pheo on the other side. This tumor could be detected only in a rotating scintigraph [%%needs a note] which was not available in Hungary, so the tumor had not been seen before. So he was operated on again, for the third time.

If he had had proper diagnosis, they could probably have done the whole job in one operation. It was thought that he had multi-endocrine neoplasia type 2 (MEN2) [another rare hereditary condition which also causes pheos] and we were told to go for check-ups every half year, for urine tests and calcitonin measurements.

Last summer (1994) in connection with my research work I met Dr. Michael Price, the secretary of the European Organization for Research and Treatment of Cancer (EORTC), and in an unofficial discussion I asked him whether he could help me to find a place where the genetic testing of my sons could be performed to locate the chromosomal aberrations causing these awful pheos. He was very kind and arranged a connection with Dr. Eamonn Maher in England.

When Mark began having symptoms of a brain tumor, we asked Dr. Maher for a referral to a neurosurgeon specializing in VHL. We thus found our way to the VHL Family Alliance, who gave us a list of European doctors and family contacts. Our son was treated by Dr. Neumann's wonderful team in Freiburg. He came through his surgery beautifully.

But enough about these depressing operations. Mark is now 24 and has finished his university studies. In spite of the brain surgery he never postponed his exams. He is a mechanical engineer. He is working now with his father and studying as a post-graduate student in economics. He is a very bright, sharp-minded, charming and generous boy, has a lot of friends, likes skiing and wind surfing.

Áron, 22, is still a student. He studied geophysics for three years, but this year he changed his mind and has turned to astronomy. He is interested in history and computers as well. He is an independent character, very warm-hearted and more introverted than Mark, with strong principles. Presently he is attending a language course in London. He does not care much for sports, although he likes to ski.

Both of them are very brave, with a good sense of humor, and they never complain or pity themselves. So you see I have the most wonderful sons in the world, as all mothers do!

According to the genetic projections, there are 300 people with VHL in Hungary, who, like us, struggle to get the right information and treatment. We are working with our physicians here to publish an article about VHL in a medical journal and to develop a VHL Clinical Care Center in Hungary.

Editor's Note: Please note that pheochromocytomas can occur on both sides, both inside an adrenal gland and outside of one. People can have more than two pheos, as Mark did here, so blood pressure and urine chemicals should continue to be checked, even after bilateral adrenalectomy. It is most important to test for pheochromocytomas before undergoing surgery for any reasons, and before going through the childbirthing process. MIBG, a specific test for a pheo, has recently been approved by the U.S. FDA and is now considered the standard test worldwide for locating a pheo, wherever it may occur in the body.

As published in the VHL Family Forum, 4:1, March 1995. For permission to reprint, please contact the VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

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