Roll of the Dice

Until a year ago I was in the l5% group for whom the DNA testing had not been helpful. Using linkage analysis, my three older children were tested for VHL in the spring of l997. Statistically, at least one of the three could be expected to test positive for VHL like me, but it did not happen. Since we still did not have a match for me, we had really learned nothing. The doctors told me they did not believe the three children had VHL, but lacking a matching test, they could not be sure. The doctors advised me not to test my two younger children until they could be sure we had a good test.

In December l997 my mother, who is in her seventies, had her DNA testing done. To our delight (yes, delight!) my mother's DNA test showed the same result as mine. Finally we knew we had a conclusive test and all children in the family could be tested. I immediately let my brothers and cousins know how to get the test done, and I took my two little girls to be tested.

As I write this, I am sitting on top of the world! I have 5 biological children who were at risk. It had been explained to my husband and me that each time we had a child it was like rolling the dice. All five children have now been tested for VHL, and none of them has VHL. We rolled the dice five times and five times the VHL gene mutation missed our child. After almost nineteen years of worrying that maybe all of my children had VHL, not one has it. I never dreamed my family would be so blessed.

All through the years I have been happy to share with people, with whom I have talked, that I knew I had run a risk each time I had a child. Only the two youngest were born after I was diagnosed with VHL. Prior to that time I had only known I had surgery for capillary hemangioblastomas, which might come back. However, I knew that I had the same chance of producing a healthy child as I had to produce one with VHL.

In addition to my five biological children, I also reared one adopted daughter, Katherine Ann, who died suddenly of a heart attack two years ago. She was, as far as we knew, a perfectly healthy 26 year old, the oldest of my six children. Her death pointed out clearly to us that we don’t have all the answers. Just because we have VHL, it does not necessarily follow that our children will also have VHL. And VHL is not the only thing that can take our precious children from us.

There is never any way of knowing beforehand what the dice will bring. All you can know is what the possibilities are, and that you are willing to deal with whatever you roll. We are blessed. We have always believed them to be the best possible set of children we could have, and we are especially happy to know that among their life challenges, they will not have to deal with VHL.

Editor’s note: Clearly not all such stories have such happy endings. VHL has a dominant pattern of inheritance, meaning that each child has a 50/50 chance of inheriting the altered copy of the VHL gene. While in this family five of five children are unaffected, in other families five of six have the altered gene, or four of four, or one of six. Each child has his or her own 50% risk of inheriting the gene, as when tossing coins. q