The Science of Being Pregnant … Again

Author: Tiffany Intal

John and I recently found out we are expecting the arrival of our fifth child in late January. I was completely surprised when I saw two pink lines appear on my home pregnancy test, because we weren’t exactly trying to get pregnant. However, we weren’t using the most reliable birth control method, either, so it wasn’t that much of a shocker. What can I say? I’m a Fertile Myrtle.

After Niki was born, John and I decided we would wait a while before we expanded our family again. We wanted some time for our whole family to adjust to the wonderful world of bleeding disorders before we ventured into “baby land” again. Niki will be 23 months when this baby is born, and that age gap wasn’t exactly what we had in mind. However, John and I welcome this pregnancy with open arms, because children are always a blessing.

Another Child With Factor VII Deficiency?

As excited as we are for the arrival of the newest addition to our family, it is an ever-so-slightly scary time, too. After all, there’s a 25% chance this baby will have factor VII deficiency (FVII). Not that it’s a bad thing. The diagnosis itself isn’t scary anymore, but the idea of not knowing this baby’s bleeding disorder status terrified us. There was no genetic testing available to us when I was pregnant with Niki. I figured it would be the same for this baby.

Factor VII deficiency is so rare that no laboratories in the US can test for it during pregnancy. There was a laboratory in Germany that could perform a prenatal test when I was pregnant with Niki, but my genetics counselor at the time said it would be impossible to convince my health insurance provider to pay for the service—especially because I knew I wouldn’t terminate the pregnancy if the baby had factor VII deficiency. Aside from that, 25% was too small a number for my insurance company to “risk” spending money on a prenatal test that wasn’t even approved in the US.

A cesarean section was not recommended by perinatology because of the relatively low chance that Niki would be affected by factor VII deficiency. Instead, I was encouraged to have a vaginal delivery modified with special protocols for known carriers of hemophilia. So, I spent my entire pregnancy obsessing about Niki's factor deficiency status.

I was afraid Niki would suffer a head bleed from birth. And to be quite honest, I felt like I couldn’t enjoy my pregnancy as much because I was constantly worried about what would happen when the baby was born. I didn’t even want my family to throw me a baby shower because I was scared that something bad would happen! Luckily, everything turned out to be just fine when Niki made her grand entrance into this world.

When I found out I was pregnant again, my heart sank at the thought of going through the ordeal of “not knowing” once more. I opted to move forward with genetic counseling, despite the discouragement I received just two short years ago. As it turned out, all was not lost. I was linked up with a very good genetic counselor who really listened to me. There is still no laboratory in the US that can check for FVII deficiency, but my genetic counselor said she would try her best to get approval. And, she succeeded!

My health insurance provider agreed to pay for genetic testing to be done by a laboratory in London. A few weeks ago, we submitted blood samples for me, John and Niki so the laboratory could extract our DNA to be shipped off to London. If all goes well, and the laboratory in London is able to locate our specific mutations, then I’ll have an amniocentesis so they can obtain some of the baby’s DNA. Then, the baby’s DNA will be shipped back to London so the lab can test to see if the baby has any copies of the mutations. It’s all very complex, but I’m happy to report that “not knowing” won’t be an issue for this pregnancy much longer. Regardless of the result, I know everything is going to be all right.

Read more about Tiffany's life at The Art of Lion Taming.