10 March 2013

babies on the brain

i am, (well, WE are, actually) in a state of limbo right now when it comes to having more kids. the list of what we know is short: we want more. but hey, ya gotta start somewhere, right??

because T & i are both carriers of the gene mutation for SMA, any child that we conceive will have a 1 in 4 chance of also being affected with SMA. and here is the tricky part: there is no way to predict how severe of a case any future child may have, if they have SMA at all. we can do testing but even if we were to find out that a future child has the genetic mutation, there's no way we can know if it's a more moderate to mild case like ruby's (or even milder, though that would be unlikely) or if that child would pass away within a month from their birth. i have read that the majority of children born with SMA are diagnosed with the more severe type 1 diagnosis. we are fortunate ruby is as strong as she is.

however, we do have options.

*we could choose to get pregnant naturally & not have any testing done.

*we could choose to get pregnant naturally & have testing done at 10 weeks, finding out the results a few weeks after the test is done. at which point, if the baby was positive for SMA, we could choose to continue the pregnancy or we could choose to end it.

*we could adopt.

*we could get a sperm or egg donor. (but SMA isn't tested in donors so technically, we could still end up with a donor who is a carrier. which would really be crap.)

*we could do IVF with preimplantation genetic testing & only implant the non-effected embryos.

so, like i said, we have options. none of them sit great with me, to be honest. they all have their cons & pros. i don't feel pulled in one way or another. i feel like i can go back and forth on what i think is best every other day.

we have decided our first step is to talk with a geneticist that dr schroth gave us the contact information for. hopefully he can answer some of our questions and help us come to a decision we feel comfortable with.

because this is a topic that is so personal. in terms of the decision to be made, i don't know how much detail i'll go into on here about it. maybe i will, but i won't know how i feel about it all until we are in any given situation. but i wanted to share where we are with it right now. i know it will all work out one way or another but it is a lot to think about, given all we've just gone through with ruby's diagnosis. it's just one more thing now that won't be easy. but it will be worth it. that much we know.


  1. The decision on whether to have more children is a huge one, but more so with people who have that 1 in 4 chance of their babies have a genetic disorder. My sister and her husband were in the same boat, they wanted more children, but didn't feel like it would be fair to bring another baby into this world with Cystic Fibrosis. As the aunt I was like, "helllo give me another nephew or a niece!" They are currently fostering two their niece and nephew from her husband's side of the family, and are in the process of adopting them. It wasn't what my sister ever imagined for her family, but they are making it work, and giving two children who desperately needed it a better life. I will be praying for you as you make this life changing decision.

    1. wow. thanks for sharing that story. it is a tough place to be in, indeed. and thank you for your prayers.

  2. That is a very difficult decision to make. My prayers are also with you.

    My sister is in a similar boat. They had a very hard time conceiving their first child, but after 4 years and many miscarriages, I have a beautiful, sweet niece. When she was 5 years old, they decided they wanted to try for one more. Miraculously, my sister was pregnant almost immediately. Sadly, her second daughter died 5 days after birth to ARPKD. A polycystic kidney disease. After her death, they did genetic testing and found they are both carriers, so they too have a 1 in 4 chance of another child with ARPKD. They too have the same options as you. They have chosen to go ahead with a natural conception, and wait out the pregnancy and see what happens. They have one healthy lovely daughter, they are taking their chances on getting another healthy child. I hope their story inspires you.

    1. thank you for sharing your story! it helps so much to hear others who have gone through similar experiences.