Our Healthy Baby

In 1992 when we decided to get pregnant we approached it as we did our professional projects -- gathering all the data, evaluating all the options. My husband in particular, trained as a scientist, felt even more powerfully than I the need to base our decision on facts. If there were a way to determine with some degree of certainty that our child were to have a high probability of an affliction worse than mine, we felt we had a responsibility to our future child to make every effort to prevent it. If we did not, we were not sure we could live with ourselves.

DNA testing was in its infancy then. The only testing available to us was linkage analysis,‡ which relied on the assumption that my father was the one with VHL. Prenatal testing (CVS‡ at ten weeks) confirmed that our daughter had inherited a chromosome other than the one thought to carry VHL in our family. We were, of course, thrilled.

Since then, we’ve learned that my father’s very speculative diagnosis may have been wrong. He is probably not a carrier, so the linkage analysis we received with so much relief and delight is meaningless. We’re glad that it gave us a positive outcome -- had it been otherwise, and especially if we had chosen to terminate the pregnancy, we’d now be devastated. DNA testing has become more accurate and more specific, allowing most families to get an accurate answer. My family is not one of those.

Planning for that theoretical child yet to be born, it seemed easy. Pregnancy seemed like something we could command at will, and we felt we were in control and responsible for the outcome. We were weighing the illness almost more than the person. But now, our daughter is not a nameless theoretical child, she is a real person. She may or may not have VHL -- we don’t yet know, but we will always love her and care for her, no matter what.

‡ see definitions on page 5.