Lou and I began to read up on SLOS and two things became immediately clear. This was what our baby had. And it was worse than we could have possible imagined.
At its most severe: fatal. Even at it's best: seriously physically and mentally debilitating disease. Treatment? Not really.
I should note that it is not exaggerating to say that this scenario is Lou's worst nightmare. We had, in fact, done everything we'd thought possible to avoid this. MatniT21. CVS. Amnio. We would have terminated the pregnancy for a disease like this. But now we've got a baby.
This is a flavor of the conversation on that first, horrible night, in between sobbing and tears:
How could this have been missed? Was this someone's fault? Is this because we tried so hard not to find out the gender, that we could have caught it earlier if only we had looked at the genitalia and noticed the mismatch with the chromosomes? Should our U/S tech of genetic counselor have caught this? I personally was bugged the entire pregnancy by the presence of so many problems all together - heart defect, club feet, IUGR - should I have pushed harder for a root cause? Why did this happen to us? Are we being punished? Did I push too hard to have a second baby?
What are our options related to quality of life? This is hard to talk about, hard to write. That first night, Harper didn't have a name. She didn't have a gender. We had barely been able to touch her. And the suffering described on the internet seemed horrific. If she didn't die on her own, what did we need to do, what should we do, to keep this child alive? Is a feeding tube an extraordinary measure in an infant? Neither of us would want to be on a feeding tube for life, but are you even allowed to make that decision for a child? Would you bother doing heart surgery on a child that was that debilitated? Would a ventilator be necessary? What should we root for when reports come in from the NICU - that the baby was improving? Would we be better off if our baby was one of the severe ones who didn't make it? What kind of horrible people are we to think about our baby's death? What kind of monster mother am I for even thinking that? Am I a mother who made a monster? Whose quality of life are we really thinking about - ours or the baby's? And what about Shea's quality of life?
What is the baby's gender? Interestingly, this question was initially Lou's biggest hurdle. He just couldn't get past the irreconcilability of the baby's chromosomes and anatomy. And it was a huge hurdle to overcome, because the first question anyone asks when you have a baby is boy or girl? How do you have a conversation about a baby no longer in utero and call it "it"? How do you talk to other people about your baby and avoid the use of pronouns? I was all for taking the path of least resistance and calling the baby a girl. What did it matter, I argued, since this baby was not likely to have enough awareness for gender identity to matter? Lou wanted more information. He was hoping the ultrasound of the anatomy would give us some definitive answer (it really only told us the reproductive tract had not really developed) or that there would be a conclusion hidden in the endocrine results (we haven't gotten them back yet, but they're unlikely to tell us anything). I think he wanted so badly to make it matter, to believe our baby would live long enough and do well enough, that gender identity would make a difference. More on this, and how we made this decision, later...
Are we strong enough to handle this? I still don't know the answer to this question. This is the one that keeps sending us into crying jabs and panic attacks. The most frightening part of this to me is what the impact will be on Shea. Have we ruined his life? Although every parent probably says this, I truly believe he's about as perfect as kids come - healthy, happy, funny, smart, compassionate, handsome, sweet, everything we ever wanted in a child. His wonderfulness was a large part of the reason we decided to have another one. Would a severely disabled sibling irreconcilably change his life and our family for the worst? Had we just saddled him with a burden to bear for decades? Neither Lou nor I had ever wanted to be a full time caretaker for a healthy child, much less a sick one - would one of us have to quit our jobs to take care of this child? Could we afford to do that? Would we need to move to be closer to specialized medical care? Would we be able to survive this as a couple? Over and over and over again we asked ourselves: are we really strong enough to handle this? Again, no answer yet - and the question still makes me cry.
Time for another baby? It was amazing how quickly, even in those first terrible hours, Lou and I both leaped to the idea of having another child. We never wanted three kids. Never. Were both really happy when we saw only a single heartbeat on the ultrasound. I certainly never had the desire to be pregnant again. But something about the news about our baby's condition had us both immediately leaping to - we should have another baby. Try again. Maybe it's the instinct to try to right something we feel we did wrong. Maybe all the reasons we wanted to give Shea a "normal" sibling are still true, and maybe even truer. If this disabled child outlived us, did we want to leave Shea alone to deal with the burden by himself? Didn't we owe it to him to try to better fulfill our vision of the kind of family we really wanted? I should note the SLOS is an autosomal recessive disease. In other words, Lou and I both randomly happen to be carriers. So there's a 25% chance that any child we conceive would have the disease (and a 66% chance Shea is a carrier). Reproductive biologist that I am, I immediately began talking about IVF and PGD to make sure the next child does not have SLOS.
Will we have another child? I don't know. A discussion for another day, not to be made in the cesspool of emotions in which we are currently dwelling. But maybe just the fact that we're willing to talk about it shows we have more hope in the future than we might have believed.
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