I’ve learned a lot about SMA, but I’m still no genetics expert. Jeff and I have an appointment in the future with our hospital genetics department for just the two of us. We want to understand a lot more and I know we’ll keep learning. With that being said, I want to talk about my experiences during both of my pregnancies. This is an attempt to tell you what we went through with regard to genetic testing. I’m guessing the experiences we had are probably normal and common.

Before I got pregnant with Kenley, Jeff and I did discuss our family histories, briefly. Neither of us had any relatives, that we knew of, who were affected by anything genetically. During an appointment with the obstetrician we had with Kenley, she asked if we would be interested in doing genetic testing. She explained two separate tests: one would be an ultrasound and the other a blood test. I asked her opinion on not doing any testing at all. She told us that insurance probably wouldn’t cover either test and that people usually decide based on what they would do with the information they received. I asked her what the tests would show. She told us that the test could show Down syndrome “or things like that”. Then she said that babies with fatal diseases, such as Trisomy 13, very rarely make it to term. We decided not to do the ultrasound or blood test.

When I was pregnant with Blake we had a different obstetrician. Genetic testing was brought up and offered to us. She asked if we had any family history of any syndromes, which we don’t.  Then she asked if we had the testing with our first child. When we told her no she said, “You’ll probably want to do what you did with your last pregnancy.”  We didn’t think much about it and declined the testing again.

During one of Blake’s appointments, after her diagnosis, I suddenly remembered we declined genetic testing all together. I asked her doctor if SMA was included in the testing during pregnancy. Her answer was no. I was really floored. How could that be? The number one genetic killer of infants and young children isn’t even included in testing? We’ve since learned it isn’t, for various reasons, which I have to pretend I’m okay with.

We didn’t know SMA was a possibility, of course. If we had, we would’ve done things much differently.  The good news for those thinking of having babies is there are tests which can be performed before getting pregnant. We could’ve gotten a simple blood (or saliva) test before deciding to have a baby. We could’ve understood the risks for most types of genetic diseases that we carried. Obviously, I wish we had known.

Please understand:  I’m not trying to suggest everyone find out anything and everything that could be “wrong” with their future child. I’m talking about something like Spinal Muscular Atrophy that is terminal, has no cure and no treatment.

I never even considered something like a fatal disease for my child. Who wants to consider that? Um, nobody. I don’t even want to have to type the words fatal or terminal. I guess, as hard as it is, I’m asking you to consider it. A blood (or saliva) test could save you so much heart ache and, at the very least, perhaps provide peace of mind. It goes without saying we wouldn’t change having our Blakey and she is absolutely perfect; but we want to keep her. That isn’t an option for us now because we didn’t know about SMA and we didn’t know to consider the possibility.

Click here to visit thegsf.org for more information on carrier screening.