My husband Paul was 24 when he was diagnosed with von Hippel-Lindau disease following the discovery of an angioma that virtually blinded his right eye. He was not told that the disease was genetic, or any of the other possible affects. For the next 17 years all was apparently well.

Then in 1990, when Paul was 41, he became very ill. Two cerebellar tumors were picked up by CT scan. They were successfully removed in 1991, but an MRI scan then showed two smaller tumors, one of which eventually developed a cyst. They were removed successfully in 1994.

Meanwhile, 16 members of his family were tested for von Hippel-Lindau disease, including our children Lana and Brent. None showed any signs of the disease.

Paul's monitoring continued, and in early 1994 the two additional tumors were successfully removed. Then in April 1995 a tumor was removed from his spinal cord. Even though only 50% of the tumor could safely be removed, surgeons were successful in cutting off its blood supply, and a subsequent MRI showed that it had dried up. Some small cysts in his kidneys are now being watched.

We were told to have the children's eyes checked every three years. If we had known then what we know now, Lana would not have lost the sight she has. In 1993, when Lana was 12, she was treated for a large angioma which nearly destroyed the vision in her right eye. A smaller one in her left eye was successfully treated. Later the same year Brent, then 14, also had a small angioma successfully treated.

Our family had been feeling very isolated and alone through all of these traumas. Lack of information was the main thing. The doctors who were treating us had never treated this disease before, and did a very good job with little information. Now that there is so much more information available, we feel confident that our medical team is much stronger. It is wonderful to have more information coming on a regular basis. Paul, Lana, and Brent are now regularly monitored by neurologists, ophthalmologists, and urologists as well as their general practitioner. Everyone has had their check-ups and all is fine, so we can put VHL back in the bottom drawer for a while. Paul is feeling well at the moment, which is a pleasure to see.

There are an estimated 600 people with VHL in Australia. Because of Australia's small population, getting information about the disease, let alone finding anyone else who has it, has been impossible until now. Late in 1993 I was listening to the radio during "Gene Awareness Week" and heard a genetic counselor being interviewed. They suggested that interested families with genetic diseases might like to contact Dr. Kathy Tucker at the Prince of Wales Hospital in Ranwick, Sydney. I was feeling pretty stressed and alone at that time. The first thing that Kathy told me was that the gene had been found. She sent me a patient information leaflet prepared by Dr. Eamonn Maher in England. I wrote to him, and he replied, enclosing a copy of the VHL Family Forum! So by going around the world we will at long last have the information we have been looking for so long."

I wrote to the U.S., and Joyce put me in touch with Jennifer K. The two of us have worked together to set up an affiliate of the VHL Family Alliance in Australia. Jennifer and I have become good friends and are in regular contact with each other. It is very exciting when another VHL family makes contact with either of us. Four families called me after an article was published in The Medical Observer, a medical magazine, in August.

Spreading information about von Hippel-Lindau disease is my way of fighting back. The VHL Family Alliance, Australia, will hold three meetings in March in Brisbane, Sydney, and Melbourne, in conjunction with the visits of Dr. Y. Edward Hsia and Joyce Wilcox Graff to Australia and New Zealand. A chapter is being set up in New Zealand as well, which will collaborate closely with us in Australia.

A VHLFA Clinical Care Center is being set up in Melbourne under Dr. Mac Gardner, Genetics Dept., Murdoch Inst, 10th Floor, Royal Childrens Hospital, Flemington Road, Parkville, Melbourne, 3052 Australia. Phone: +61 (03) 9345-5157; Fax: +61 (03) 9348-1391.

DNA testing for VHL is offered by Dr. Jack Goldblatt, Director of Genetics, Princess Margaret Hosp for Children, Roberts Road, Subiaco, 6008 West Australia, Phone: +61 9 340-8222; Fax: +61 9 340-8111; E-mail: tedkins@uniwa.uwa.edu.au.

We hope to meet you in Hawaii!

Our thanks to Raelene Allen and the Medical Observer, Sydney, Australia, for their assistance in the preparation of this article.

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.