HELLO, NORAH.

THOUGH SHE BE BUT LITTLE, SHE IS FIERCE.

#8 // Genetic Counseling

Our StoryJoanna ZuidemaComment

Due to the way that Norah's abnormalities were presenting, we were referred to a genetic counselor.

If you are like we were, and have zero idea what genetic counseling means, you can find a quick overview here.

With Lane and I having already made our decision on prenatal genetic testing, our genetic counseling appointment was unsurprisingly quite brief. 

The genetic counselor reviewed our family medical history alongside our medical report for the pregnancy. Lane is adopted, so the only family medical history we had to review was mine, which isn't extensive. There are no major concerns and no genetic abnormalities run in my family.

Evidently, having no family history of a genetic abnormality is incredibly common. For Norah, it likely happened completely out of the blue, possibly from an error while her genes were coming together. 

There are no clear indications of one disorder over another, which made the counselor think that a smaller error may be the cause. However, revealing the true answer would involve further genetic testing to review each of her chromosomes in detail. 

We were informed again that the required testing could either be done via amniocentesis prenatally, or after birth via a blood draw. Again, it was reiterated that even with prenatal genetic testing, nothing could be confirmed until after birth. The counselor's role is not to push us one way or another, just to inform us of the available options. 

Even though we had already decided not to do any further prenatal genetic testing, we are 100% on board with doing genetic testing as soon as she’s born. I'm glad we had the opportunity to discuss how that would be handled and what to expect at birth. (They will draw her blood, ideally cord blood, immediately after birth. Results would arrive in 1-2 weeks – a time frame that doesn't bother us considering she will likely be preoccupied with multiple surgeries in that time frame anyways) 

We also chatted with the counselor about doing carrier testing (seeing if Lane and I are carriers for any genetic abnormalities, or have incompatible genes) before having more children. It isn't an immediate need, but depending on Norah's diagnosis, it's nice knowing we have that option available to us.

Even though this appointment didn't change anything, it was empowering in a way. This was the first appointment I left feeling like we truly had a say in the medical decisions involving Norah's care. Not knowing exactly what's going on with Norah, it's easy to just go from one doctor to the next, waiting on what they can tell us. But here we were finally able to stop, make a decision we were comfortable with as a family, and confidently stand by it.

It really is all about the little wins.

Continue the story > #9 // Itineraries