Helping families find the critical information and support they need
December 11, 2019
Report from Rare Disease Week in D.C.
March 2, 2017
2019 - The Year in Review
December 31, 2019
Big News for the Coneckers...We're Growing!
April 1, 2015
I’ll start with the news… I am pregnant with our second child. Several years ago, John and I discussed the family we anticipated having, and we agreed that having two children made sense for us in many ways. When I was pregnant with Elliott, we really never considered that we could or would have a sick child. I think most people don’t, but that’s certainly what happened. And as you might guess, the thought of having another child after having one so severely disabled and ill was very scary. While Elliott is a joy in so many ways, it is hard to imagine the idea (both emotionally and physically) of having another child to care for, healthy or not.
Several of Elliott’s doctors told us that having a second child would be good for Elliott as well as for John and me. Because Elliott has so many medicines and therapies he needs at home, and so frequently, it ends up being hard for us to get out of the house. Having another child would, especially down the road, provide a more stimulating environment in the house and encourage us all to get Elliott out more. John and I would benefit from the normalizing influence of another child, so we don’t dwell in the “sick kid’s parents” mentality all the time. We also look forward to all the kisses that a little brother or sister could give to Elliott.
Before we made the decision to try again, we discussed extensively whether having another child was safe or reasonable for us. As precious as Elliott is, we wouldn’t want to have another child with his health issues if we could avoid it. The best information we could get indicated that Elliott’s genetic mutation was ``de novo,” meaning it was not inherited from either John or myself but occurred spontaneously in Elliott. John and I have both undergone genetic testing for Elliott’s SCN8A mutation, and they did not find it in us. However, there have been other parents who did not think that they had it, and yet they had more than one child with an SCN8A mutation. The most likely explanation is something called genetic mosaicism, in which the genes in one part of your body can differ from the genes in other parts of your body. In this scenario, the cells in most of our body (including our blood) might have the normal, healthy version of the SCN8A gene, but one of us might have the mutated version in our reproductive organs (called gonadal or germline mosaicism). If that were the case then we could pass the mutated version on to multiple children, even though a blood test would say that’s not possible.
Gonadal mosaicism is rare, but not rare enough to calm our nerves. We had hoped to rule it out before we started trying to have a second child, but unfortunately, gonadal mosaicism is very difficult to test for. We did what testing we could, but we were not able to eliminate the possibility completely.
In reality, the only way we could tell whether our next child would have this mutation was to get pregnant, wait until almost halfway through the pregnancy, and then test the fetus itself by doing an amniocentesis. And that is what we did, which made the first 4.5 months of the pregnancy incredibly difficult. The “what if” was constantly in the backs of our minds, even after I started to feel the baby kicking. At week 18, we had the amniocentesis. Several tubes worth of amniotic fluid were drawn from the amniotic sac and sent out for genetic testing. We were told that the wait could be up to three weeks, but luckily the results back came after only a week and a half: Baby #2 does not have the same SCN8A mutation as Elliott.
That testing did provide some relief, but we still have concerns. For one thing, while we are fairly confident that Elliott’s SCN8A mutation is the source of his troubles, we can’t be certain. Because so little is known about the mutation, it could very well be that his SCN8A mutation is harmless and the real culprit is still unknown to us. Or, it could be that his SCN8A mutation really is damaging, but that he also has a second harmful mutation that we don’t know about that is causing some of his more extreme health issues. Both of these scenarios are unlikely, but possible. And even if Baby #2 is free from whatever it is that Elliott has, that just puts us in the same boat as all other expecting parents. The testing we’ve already had done can rule out a few issues such as Down Syndrome, but otherwise, this baby is at the same risk as any other for anything that can afflict a kid – genetic or otherwise – from autism to leukemia. All of those things are farfetched, but we’ve been hit by lightning before and we still worry that we might somehow have a second sick child. Once bitten, twice shy.
Ironically, with this second child, John and I will in many ways be like first-time parents. With Elliott, we’ve had to deal with a lot of extreme issues and a few of the more mundane ones, like changing diapers. But we’ve never encountered many of the challenges that most people associate with parenting: a kid who is starting to eat solids, crawling, sleep training, getting into everything, etc. We’ve never even baby-proofed our house – it was never necessary with Elliott since he doesn’t move unless we move him. So many things will be new to us that we won’t even have the cushion of experience to make the second baby easier. Nonetheless, we are excited and eagerly await learning how this new baby will change our lives and be just one more person to love on Elliott.