Three Healthy Babies and a Healthy Mom

I had a brain tumor in 1990 that was successfully treated. They suspected VHL, and a series of retinal lesions confirmed the diagnosis. Nonetheless, no one in my family had anything that looked like VHL.

In 1994, the new availability of prenatal testing seemed to support a decision to become pregnant at age 36. . . The gene had been found in 1993, but they were still doing mostly linkage analysis. They did a sampling of the placenta (CVS) which had some risk both to me and to the baby, but we felt it was important to know, and to know as early in the pregnancy as possible. Fortunately the result came back negative.

After the test there was still a lot of debate about whether to delivery vaginally or not. With my brain tumor history, they were concerned about the increased blood pressure during pushing. My obstetrician is wonderful but of course knew little about VHL. She reviewed the literature. Having attended the VHLFA meeting in Boston, I knew enough to say that the literature was very thin and did not contain all the answers. I did not want to have a scheduled cesarean section if it was not absolutely necessary. I contacted NIH and organized a telephone conference call among researchers and clinicians at NIH, my obstetrician, and the head of anesthesiology at Beth Israel Hospital in Boston. The consensus was that cranial pressure was not an issue because there was no evidence of another hemangioblastoma in the brain. To this day the obstetrician refers to me as her "activist patient." As it turns out, the baby was facing backward and took a long time to deliver. I imagined myself a yuppie supermother in great shape and insisted that I could do it the natural way, but after 3 days of labor my daughter was delivered by cesarean after all.

When my daughter was two, we found out that my mutation is still among those that cannot be identified. This threw the results of the prenatal testing out the window. By this time, charmed by our wonderful daughter, we became more philosophical about VHL, and decided to have a second child. Our desire to have a child, coupled with an optimism about diagnostic and treatment advances outweighed our fear of VHL. My VHL screens continued to be clear, so the risks to me were minimal.

There were no special arrangements during the pregnancy other than the routine things they do for an "older" mother (I was now 40). My VHL mutation had still not been identified. Everything went smoothly, but during delivery they discovered that the cord was wrapped around the baby’s neck and they wound up delivering her too by cesarean section.

Last year when I became pregnant with our third child, we checked again with NIH to see if my mutation had at last been identified, but it had not. Prenatal testing was therefore not an option. With new anesthesiologists on board at Beth Israel, we had to review again the question of delivery. They reviewed my last neurological scans and decided, reluctantly, to permit a vaginal delivery. My body decided otherwise, so our little boy was also delivered by C-section.

I have nursed each of the children for one and a half years. I have delayed my post-natal scanning until after weaning, to make sure the baby is not exposed to radiation. It’s funny, but pregnancy, childbirth and nursing seem to supplant all other non-urgent medical activities and make you put off everything else. I feel just fine, but I should do an MRI now just to make sure the scans agree.

My oldest child just had her first retinal exam. It was interesting watching them do a pre-reading visual acuity test. They haven’t updated the pictures they ask the child to identify — they showed a phone from the 1940’s with a handset and a flared base with a rotary dial. For her, a phone is a rectangular thing with buttons. I couldn’t even identify some of the pictures .

We will continue to test the children following the guidelines in the Handbook, and do the monitoring. If and when we’re able to identify my mutation, we’ll test them for that too.

Pronouncements are always dangerous, but it’s inconceivable to think that we considered childlessness the only responsible VHL driven step. If any or all of them do end up with VHL, I’m sure we’ll feel a terrible responsibility. But our children are so precious and so vital, that we’ll manage their health as a part of their unfolding lives.

See also the medical article Pregnancy in VHL, with important information for the health care team.

As printed in the VHL Family Forum  9:5, December 2001.  For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

mystory