Our Best Mistake

June 17, 2006, was one of the happiest days of my life. I was married to the most wonderful man—the man of my dreams! We had a beautiful wedding and a fabulous two-week honeymoon in Hawaii. However, our “honeymoon period” quickly ended when I found out two months later that I was a carrier of the VHL gene and would also need surgery to remove a hemangioblastoma from my thoracic spine. In November 2006, I underwent a successful spinal laminectomy to remove a 4 cm tumor. Subsequent scans were done which revealed a tumor in my pancreas and one in the base of my skull. After a couple of years, my husband and I decided we were at a point in our lives when we wanted children. After seeing my father suffer for years with VHL-related problems and experiencing my own problems, I was 100% sure that I did not want to pass the VHL gene on to my children. We discussed our options in great detail and decided that IVF with PGD was the best route for us to achieve pregnancy without passing on the gene.

In March 2008, after receiving clearance from my doctors to get pregnant, my husband and I made an appointment with the Fertility Center at Massachusetts General Hospital. We had a consultation to discuss our detailed health information as well as details of the IVF/PGD process. We were informed that it would take approximately three months for the genetic test to be completed based on both of our genetic information. The genetic test was done through a laboratory in Detroit, Michigan, called Genesis Genetics. In order for the genetic “probe” to be devised, we had to send cheek swabs from me, my husband, and several of my family members. (The lab needed swabs from my family because I am the VHL carrier, and it would help with the accuracy of the test.) (Footnote [1]) In addition, we had to send a copy of my genetic testing DNA report, signed consent, and payment. I should note that at the time, payment for the genetic test was completely separate from the hospital and was not covered by my insurance.

Upon completion of the genetic probe, we would be ready to start the IVF cycle. However, things did not go quite as planned! I ended up getting pregnant naturally. The news came as a total shock, and we were very scared as to what the road ahead would bring.

Coincidentally, I received an email from Genesis Genetics informing us that the genetic probe was ready on the very same day that I found out I was pregnant.

I was referred to a high risk obstetrician at MGH. He was the most wonderful doctor who took the time to research VHL. At our first appointment, rather than discuss VHL and pregnancy at length, we discussed what our options were with the pregnancy. There were three options: continue with the pregnancy and test for VHL after the birth of the baby, abortion, or test the fetus through chorionic villus sampling (CVS).

We decided to go the CVS route, which meant that the doctors could test the fetus for the VHL gene between weeks 10 and 12 of pregnancy, (rather than amniocentesis, which is usually done later between 15 and 20 weeks.) Chorionic villi are growths found in the placenta that carry the same genetic material as the fetus. The CVS procedure was more emotional than painful. A catheter was placed vaginally through my cervix into the placenta and a sample was taken. The procedure can also be done by placing a needle through the abdomen, depending on the position of the baby. I was relieved that my procedure did not involve sticking a needle through my stomach!

We weren’t quite sure what we would do with the information from the CVS. As adamant as I was about not passing on the gene before I became pregnant, my thoughts and feelings were starting to change. The feeling of having another life growing inside of me was so moving and overwhelming. It was rather easy for me to say the word “abortion” prior to experiencing pregnancy. However, as the days moved on and the baby was growing, my feelings were quickly changing. We were hoping and praying that the test results would be negative for VHL.

The CVS was performed at 11 weeks, and we found out three weeks later that we were having a boy (the CVS test can also test the gender of the baby)! It took a bit longer for the genetic results to be complete. The 6 weeks following the CVS were the most stressful of our lives. The feeling of “not knowing” and not being able to do anything about it was awful. Around 17 weeks of pregnancy, I received the call that we were waiting for...the baby boy growing in my belly was not a carrier of the VHL gene!! Tears of happiness were flowing from my eyes as I was able to pass along such amazing news to my husband, our families, and friends! Several months later, our beautiful baby boy was born via planned C-Section.

As for my VHL tumors during pregnancy, both of my tumors did grow while I was pregnant. (Footnote [2])  However, a few months after pregnancy, the tumor in my head got smaller while the pancreas tumor continued to grow. Also, my doctors were able to monitor the tumors throughout pregnancy with MRI scans—without contrast. For me, the pregnancy was normal with no complications despite my VHL condition.

After experiencing the extreme stress and anxiousness of “not knowing” my husband and I decided that we never want to experience those feelings again. In addition to be being extremely careful to prevent pregnancy, we decided if we want to try for another child that we will most definitely go the IVF/PGD route.

Ultimately, the decision is extremely personal and should be discussed in great detail. What was “right” for my husband and I might not be the right decision for another couple dealing with VHL and pregnancy. We were lucky and fortunate that what was considered a “mistake” turned out to be one of the greatest gifts of our lives.

Footnote [1]: Cheek swabs do not always provide sufficient information. Blood samples may be required.

Footnote [2]: It is now recommended to do an MRI without contrast in the 4th month of pregnancy to check CNS lesions.

As printed in the VHL Family Forum 19:1, January/February 2011. 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