Our Experience

As with many young couples, we were looking forward to having children one day. However, our situation was not like that of a normal couple, as one of us suffers from VHL. If we were sure about one thing, it was that we did not want our children to suffer from the same condition.

Before the “call to fatherhood/motherhood”, we started to look into the options we had, as we knew it might be a long process. Since we did not know about a previous case in the Spanish VHL Association, we turned to our Community Hospital, to be more precise to the human reproduction unit. There, we presented our case and were given three alternatives:

1) Becoming pregnant in a natural way, and after three months having a specialized amniocentesis (different from the usual amniocentesis). This test would allow the doctors to see if the embryo had inherited the disease or not. In case it had, the option was abortion
2) Achieving pregnancy through an egg/sperm donation from a healthy donor
3) Becoming pregnant through in vitro fertilization after pre-implantation genetic diagnosis.

Our preference was for both of us to be the biological parents, so we had options 2 or 3—becoming pregnant with the possibility of an abortion if the fetus had inherited the disease and in vitro fertilization after pre-implantation genetic diagnosis. We opted for the latter because we considered it less difficult, although it might take many tries before getting pregnant and take a toll on the woman on a physical level (the hormones injected) and a psychological level (the emotional roller-coaster of not becoming pregnant after several tries). However, the possibility of an abortion after the fetus was diagnosed with the disease seemed even harder to us.

As our community hospital did not offer this option, the assisted reproduction unit put us in touch with the IVI (Infertility Institute in Valencia), and we were granted funding for up to three tries, which is the number of tries all couples with fertility problems get.

The initial process was rather long, as we both had to send blood samples (the one with the VHL mutation and the one without it), and the medical report indicating what our specific VHL mutation was. This information is helpful for the entire family as all affected family members share the same VHL mutation. After several months (approximately seven months), we were informed by phone that it was possible to detect the mutation in the fertilized egg, and from that moment on we could try to have children when we pleased.

This first step was really important for us, since at first we were not assured that the disease could be detected in the fertilized egg. If they were unable to set up a rapid test for the mutation in our family, we would not have been able to use this option at all. So it was wonderful news for us when we were told that we would be able to do it.

The induction of egg production turned out to be easier than I had expected. I had been told that it would be difficult and painful. At the IVI, I was taught how to inject myself with the hormones to stimulate egg production, and I found it to be very simple and not painful at all. When the eggs reached the right size, they were extracted, for which I was sedated, so this process was not painful either. In my case, the following day was hard. I went to work, but I really should have stayed home as I was not feeling well. I should have stayed all day in bed. The day after that, though not feeling completely recovered, I was much better.

Once the eggs were extracted, they were fertilized in the laboratory. Some of the eggs recovered were not mature and were lost. But the mature eggs were fertilized and grown to the point that they could do a biopsy and test them for the VHL gene mutation. They determine which embryos (fertilized eggs) have two healthy VHL genes, which ones have the VHL alteration, and which ones are questionable (these are discarded). This leaves only a few healthy embryos to implant. Typically, couples have many healthy embryos; they implant only two or three, and the rest are frozen for future use. However, in our case, this was a problem because we were left with very few healthy embryos. If we did not get pregnant on the first try, we would have to go through the process of stimulating and extracting eggs again.

Five days after the extraction, I was implanted with two embryos. This process is done without sedation, but it is not painful at all, on the contrary it is really beautiful. We were able to be together and watch the ultrasound picture while the embryos were implanted, and we were also given an ultrasound picture showing the embryos in the uterus. The truth is that it was a very special moment. We were watching what in the future would be our two children. We were very lucky that I became pregnant on that first try. Both embryos survived, and now we have our two daughters, who are really wonderful!

For me, the worst part in this process was the ten days after the embryos were implanted, until I had a blood test to see if I was really pregnant. During the hours following the blood extraction, I was even more nervous, until I got the results. Many things come to your mind, as you are keenly aware of every little symptom you might have, or wishing to have, just any little indication to give you the hope of being pregnant. Thank goodness it was only ten days! The hours waiting for the phone call to find out if everything had worked successfully…they were endless!

As I have said before, we were lucky. I got pregnant after the first try and with twins, which is what we wanted. This way, with one pregnancy, we had two children, and we would not have to go through this process again. We were just delighted.

For us, it was worth going through all this because, at the end, we were left with the peace of mind of knowing that our children have not inherited VHL.

Note: The genetic test used in this case only determines whether the embryos have inherited the altered VHL gene, but it does not rule out other anomalies, such as Down Syndrome.

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.