An Answer

Today, the genetic counselor called with the test result from Faith's liver tissue which was selected as opposed to using the amniotic fluid. Faith has been diagnosed with Smith-Lemli-Opitz syndrome. This confirms that my husband and I are both carriers of a mutated gene causing this condition which we received from one of our parents who also has to be a carrier.

I've read that 1/30 people are carriers and the chance that 2 carriers would fall in love and reproduce is 1/900. There is a 75% chance that each pregnancy between the 2 carriers would not be affected, which makes the odds very small that a baby will be born with this genetic syndrome (1 in 20,000 to 60,000). However, Faith was that 25% and my husband and I are that 1 couple out of 900.

As mentioned in an earlier blog, my husband and I have several options:
1. Continue trying the old fashioned way without intervention until 10 gestational weeks. They would then perform CVS to determine if the child is affected.
2. In-Vitro Fertilization (IVF) combined with pre-implantation genetic diagnosis (PGD) AKA embryo screening
3. Sperm or Egg donation
4. Embryo Adoption/donation
5. Adoption

My husband and I want genetic children of our own, to look at their faces and see each other, a creation of us. Options 1 and 2 are the only options we have to have a healthy genetic child of our own. It hardly seems fair that something so simple for most people has now become so complicated for us, but more importantly I am grateful in the advances of technology which allows us to have option 1 and 2 at all.

With both of the options we are interested in pursuing at this time, we will be faced with a lot of difficult decisions. Option 1 has a 75% chance of a healthy child, and a 25% chance we will again be faced with the decision to terminate or to continue an un-viable pregnancy. This cycle could happen over and over and over again. With option 2 we have to have peace with discarding any affected embryo(s), selective reduction, and the potential that implantation doesn't occur. The embryo's are children, we will have to be okay with letting them go.

We will be meeting with our genetic counselor on September 1, to further discuss our options in the future. Next steps include additional testing on Faith's tissue, my husband and I in order to identify the exact gene mutation so they will know what to screen for.

Despite all that we have gone through I am relieved to have an answer as to why Faith was so sick, and likely why we lost Christian. I consider us lucky to have a definitive cause as there are so many couples who are left to wonder, and consequently not able to be helped in future pregnancies.