Trisomy 9p Syndrome.
OK, wtf is that?? It sounds scary. I thought about Trisomy 13 and Trisomy 18 and Trisomy 21... all disorders I'd been screened for very early in my pregnancy and was considered low risk. So why is the word Trisomy coming into this conversation?
So Trisomy, in simple terms, means "three chromosomes" where we are only supposed to have two. "9" refers to the 9th chromosome, and "p" refers to the top, or "p" arm of the chromosome.
So somewhere close to conception, Sproglet's DNA went a little bit haywire, and made two of every chromosome (including XX!) except her ninth, which partially duplicated and now three 9th chromosomes exist in every cell in her body. No, we don't know why. It just did. I've definitely blamed myself from every angle but have been assured over and over by people WAY smarter than me that this wasn't a result of anything I, or Dad, did. Maybe there's a hereditary link, and we're going to be tested for that, but it's not something that could have been caught before Sproglet was conceived.
OH GOD WHAT DOES THIS MEAN?
Here's where I tell you something fun about me. I should have told you sooner, but the subject didn't come up. I'm... ANXIOUS. Like, really anxious. Anxiety disorder-level anxious. While I don't treat my anxiety with medication at this point in my life, I can go from 0-60 on the anxiety scale faster than mankind has capability of recording. Really. I mean, I'm a whackadoo. So here, I will try to transcribe the thoughts that went through my head as our kind genetics Doctor shared pamphlets and photos of what our daughter's condition looks like.
"Oh fuck oh fuck oh fuck. Some of those people look profoundly disabled... People are going to be mean to her. Kids won't let her play with them and she'll be hurt. Oh shit, there's intellectual disability as well? So maybe she won't be hurt by other people being mean to her because she won't have the mental capacity to understand. So that's positive. No, wait, that's incredibly sad and depressing and oh God, she's not going to be the daughter I expected to have. Wait wait wait... limited mobility, did she say? Shit, we need to build a ramp on the house. Or maybe we should sell the house and buy a one -level house that already has a ramp. And she'll probably need a service dog! Oh, that's cool, I've been trying to convince Hubs to let me get a labradoodle, now he'll have to say yes. Do we need a passenger van? I hate those things, they're so annoying to get stuck behind on the road. Shit shit shit shit shit shit. A lot of people with this condition can't use the bathroom by themselves. Like, adults. Holy shit. Holy shit. Holy shit. Do we need a group home? My mother died at 60, only 23 years older than I am now. If I die at 60, Sproglet will only be 23 years old, I can't die that young and leave her. Why did I smoke all those years?? Ok, mental note to call our lawyer and figure out how to amend our will. And what about her Big Brother?? He can't be expected to care for his sister forever. I don't want this overshadowing his childhood. At least he'll probably get married and have children, even if Sproglet can't. Shit, am I a good enough mother to deal with this? Is our marriage strong enough to deal with this? How are we going to break this news to our family? Etc etc etc etc etc...."
"Oh fuck oh fuck oh fuck. Some of those people look profoundly disabled... People are going to be mean to her. Kids won't let her play with them and she'll be hurt. Oh shit, there's intellectual disability as well? So maybe she won't be hurt by other people being mean to her because she won't have the mental capacity to understand. So that's positive. No, wait, that's incredibly sad and depressing and oh God, she's not going to be the daughter I expected to have. Wait wait wait... limited mobility, did she say? Shit, we need to build a ramp on the house. Or maybe we should sell the house and buy a one -level house that already has a ramp. And she'll probably need a service dog! Oh, that's cool, I've been trying to convince Hubs to let me get a labradoodle, now he'll have to say yes. Do we need a passenger van? I hate those things, they're so annoying to get stuck behind on the road. Shit shit shit shit shit shit. A lot of people with this condition can't use the bathroom by themselves. Like, adults. Holy shit. Holy shit. Holy shit. Do we need a group home? My mother died at 60, only 23 years older than I am now. If I die at 60, Sproglet will only be 23 years old, I can't die that young and leave her. Why did I smoke all those years?? Ok, mental note to call our lawyer and figure out how to amend our will. And what about her Big Brother?? He can't be expected to care for his sister forever. I don't want this overshadowing his childhood. At least he'll probably get married and have children, even if Sproglet can't. Shit, am I a good enough mother to deal with this? Is our marriage strong enough to deal with this? How are we going to break this news to our family? Etc etc etc etc etc...."
And this is where the geneticist looked at me and said, no joke, "You're really taking this well!"
So I guess I've perfected my poker face over the years.
So I guess I've perfected my poker face over the years.
Anyway, luckily, my Hubs is an incredibly rational, linear thinker. I'm guessing his inner-monologue went something like this:
"Ah, I detect a problem. I think this problem can be tackled in 5, no maybe 4, relatively easy steps. I can probably build a ramp if necessary and I'll write to Porsche and see if they'll modify a Turbo 9-11 to accommodate a wheelchair."
"Ah, I detect a problem. I think this problem can be tackled in 5, no maybe 4, relatively easy steps. I can probably build a ramp if necessary and I'll write to Porsche and see if they'll modify a Turbo 9-11 to accommodate a wheelchair."
Thank God for him, he was able to talk me down. I'm sure he once again questioned how he managed to saddle himself with such a histrionic woman, but whatever. I make delicious cakes for him sometimes so it evens out.
Up next: WHAT THIS ACTUALLY MEANS
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