Thursday, August 1, 2013

Stormy With A Chance of Scared Sobbing

So we've had some scary news. We did a big blood panel at my last ob appointment and ultrasound where we check the neck. I got a call Tuesday about it. It went a little something like this:

Tuesday I got a call from my ob/gyn office saying they got my blood results back from the screening they do through the state to check for Down's syndrome, chromosome 18, & a bunch of other stuff. The receptionist said all was fine. I said great & hooray and went on with my day. Then later that afternoon my actual ob called to talk about my results. I have super low vitamin d so she wants me to take additional vitamins (no big deal), I'm not immune to rubella so I need to be vaccinated later (no big deal), oh and I am a "premutation carrier" for fragile X chromosome which is the most common cause of mental retardation in children. She doesn't know much about it so I need to talk to a genetic counselor, her receptionist will give me the info. So I, of course, set up the appointment for Wednesday and then look up online what that is. It's not great to read lists online of things that can go wrong on anything but this specifically made me worried about our little nugget.

Wednesday I saw the genetic counselor to get more info. It boils down to Fragile X can cause autism and major mental and physical retardation. I have a 50/50 shot of passing this on to our kids. If I do pass it on there is a 5% chance they get the worst case scenarios. Best case is they don't get the gene. Most likely case is they're carriers like I am. Now the delightful part for carriers is that in women you now have a 20% chance of premature ovarian failure, huzzah. This means if Joe and I want to have more genetic kids it needs to be sooner rather than later and we will go through this every time [testing if our child has this, is a carrier, etc.]. We also had to chat with the genetic counselor about whether or not we would terminate a mentally challenged child. These are not delightful conversations to have. They are really, really hard conversations to have. So I'm even more genetically broken, I could genetically break my kids, and then they could genetically break theirs, and so on down the line.  Then I get more blood drawn for more tests and I get an amneo test done next Tuesday to test for even more shit. So now I'm trying not to worry and panic but I am worrying and scared and tired and sad.

Every parent wants life to be amazing for their child with very little struggle. We may have a lifetime ahead for our child of struggle and we don't know yet. We are in limbo waiting. I'm scared. I'm sad. I'm worried. I'm struggling. I know the greatest chance is they will be carriers and live great lives but I don't want them to worry or struggle with this if/when they choose to have kids. This is really hard. It's really scary. It's pretty much all I am thinking about. And can I just say when someone tells you something like this and then says "don't worry" I feel you should have every right to laugh or punch them in their faces (or both). Right in their faces laugh at that dumb comment or just straight punch 'em. Ah yes, I won't worry about all these tests or my child or future children because you said not to, good call on that, I would have otherwise. Yes, I understand they are trying to reassure me & keep me from being upset, well I am upset so bite me! I will love this child and fight for this child their whole life no matter what but this is frightening. It's scary. It makes you shelve those lofty dreams for your kids that you sometimes let your imagination run away with and settles you right back into this moment of not knowing what tomorrow holds. This is where I am living right now.

So I ask you to please be a little gentle with me for a bit. Please be kind. Please go out of your way if you can to give me a hug or make me laugh my butt off. I need that. Because right now, I am struggling in this new mama-hood venture. I am waiting. I am scared. I am snuggling my belly extra tight and telling this little navel orange baby that I love them SO much. And I do. I am hoping for some more strength and bravery right now. I am pulling on every last ounce of what I've got to muster up the courage to ride into whatever battle I may need to ride into for this kid. I know I can fight, I know I'm vulnerable in the best ways, I know how fiercely I can love, I just hope it's all enough. Enough for my little one.


Edit: I found this resource tonight am reading up more about being a carrier, passing this gene along, and those with a full mutation of Fragile X.