My Testing Results

I received a phone call on Friday from the genetics counselor. My carrier testing results came back for the alpha-5 reductase deficiency. It showed that I am, in fact, a carrier for this deficiency. Which means Sam goes to the second level of testing for the carrier status to see if he is a carrier.

What does this mean as it stands right now? Right now, Brooklynn might have received the carrier gene from me. We would never have known we were carriers except for the fact that Brooklynn had a large cambut of genetic testing done, and this was an incidental finding. This means we do not have any symptoms of the disease, and the only way of passing this disease on to children is if we marry someone else (or produce with someone else I guess) who is also a carrier, at which point we would have a 1 in 4 chance of having a baby who has this genetic disease. It would only effect boys, because the hormones it effects is the male sex hormone, not the female hormones.

So if Sam's test comes back positive as also being a carrier, we are officially done having children. If his test comes back negative as being a carrier, we MIGHT be done having children. It is open for discussion. Either way, or fate as having more children is unknown, and leaning more towards us only being a family of 4. There is nothing wrong with being a family of 4. It is just a big adjustment to thinking that way. We always thought we would be a family of 5 or 6. I guess God might have other plans for us...