Quick Update

We had our follow up consultation with Dr. N, our high risk OB today. It was a short meeting, he asked about my physical health and our emotional health, then reviewed the high level details of Faith's preliminary autopsy report. As we already know she had SLO. This biochemical disease caused a placental insufficiency, which resulted in the low levels of amniotic fluid. The low amniotic fluid resulted in hypoplastic lungs, confirmed during the autopsy, a fatal condition.

This was just a preliminary report, so it did not have a lot of detail, but our genetic counselor will be able to provide it to us when it is ready, if we wish.

We were unable to meet with our genetic counselor in person, but I did speak with her yesterday over the phone. She indicated they aren't as far along with Faith's DNA sample as she originally thought, as it is not yet ready to be evaluated. To put it simply it has to mature more prior to evaluating for the exact mutation of SLO. After the mutation is identified in Faith's DNA, my husband and I will need to also be tested further in order to fully be able to pre-screen for SLO in another pregnancy. Having the exact mutation makes it more cost effective for our siblings to be tested to determine if they are carriers.