Tuesday, August 13, 2013

Cloudy With a Chance of Crazy Train

I got a call Friday morning that woke me up from sleep. It was my genetic counselor calling to tell me the preliminary results from my amniocentesis. She told me that our baby inherited my carrier X chromosome, that the mutation only went up by one repeat though (I have 58 repeats and our baby has 59 repeats). She said that it was good news, not the best but good news. She warned that as a carrier there comes risks & issues. Females carriers have a 20% chance of premature ovarian failure over the age of thirty (this includes me by the way, I could have premature ovarian failure). That in males they definitely pass on this X chromosome to their daughters which means grandchildren could be carriers or have a full mutation. In both males & females over the age of fifty there are increased chances of tremors, seizures, short-term memory loss, and early onset dementia. These are not the things you want to hear or think about. To say I had mixed feelings is an understatement.

 I felt a rush of relief. I felt a rush of fear. I felt a rush of gratitude and anger and sadness and elation and everything else under the sun. This was good news, not the best though. Not the best. Risks and issues. There's an increased chance in carriers for anxiety and depression. I think the reason I'm double jointed and hyperextensive in all my joints is being a carrier. Bigger forehead and ears that stick out, I've got those too. Are they FXS related as a carrier? I don't know. I was told that sooner rather than later I need to decide if I want to have more kids, as my ovaries can stop working. Not I've run out of eggs as in menopause style but that they literally shut down and so I lose all those potential eggs I have already.

It's really hard to talk to people about this too. Everyone immediately says things like "this is great, the baby will be perfect, you have nothing to worry about now" or "try not to think about all that, that's in the future, there could be loads of medicine and a cure by then" or "you don't have to decide right now about kids, everyone says how hard pregnancy is but once that little baby gets here it will all be worth it, you'll want more I know it". To all these things I want to scream "SHUT UP! YOU DON'T KNOW WHAT YOU'RE TALKING ABOUT!" and I know how harsh that sounds. I want to acknowledge how lovely and supportive people are being, they truly are and my heart is SO grateful beyond words for it. But, there is also a difference between the best and good news, there's a difference between silly worries and legitimate medical fact worries, there is a difference between a "normal" pregnancy and mine, and I DO have to decide soon, and I do need to talk about it now, and I can't wait and not think of it until later because there may not be a later for me and my ovaries. That is where I feel so frustrated. IT IS DIFFERENT.

And I get so angry. So damned angry when someone tells me not to feel how I feel. I am justified in feeling every way I feel because I feel it. That's the only reason I need. I would never tell anyone not to feel any way about any thing because if you're feeling it, you're feeling it for a reason and whatever the reason you're justified in it damn it. Don't tell me how to feel or think. Don't tell me not to worry or discuss. Don't tell me this is like what every other parent feels, it's not. Yes, having my boobs shoot up to a cup size of G at only 4 months sucks, having areolas the size of silver dollars is gross, having a constant discharge in my pants is disgusting, the acne ALL over my body repulses even me, and my nails and hair aren't growing better, and I cry and am angry all the time and feel insane. Yes, all of those things suck, a lot. Pregnant ladies are awesome for going through what they go through. But, and I may sound like a jerk here, BUT all that shit doesn't fucking matter to me anymore because this is SO MUCH BIGGER. So much more. And it's overwhelming. There's still loads to think about, to decide, there's still issues and risks that may pop up, there is still just so much.

Plus, and even worse for a pressure-producer like me, every decision feels like it's on this immediate timeline and then I pressure myself internally to make it faster and these are not fast decisions people. I know I should breathe and enjoy this pregnancy and wait until the baby is born BUT I also have to think about if I want to go through this hell again. Can I feel this way again to have a natural child? Can I handle an amnio again? Can I handle all the testing and waiting again? Can I handle the stress and the not knowing? Am I ready to give up having more natural children and just adopt? We wanted to adopt anyway and have a big mixed family but is this the better option for us now, just adopt? Should we try to save up $35k+ for IVF & PGD testing to guarantee embryos with my good X? Do we get an egg donor? WHAT DO WE DO?! Decide sooner rather than later, oh by the way it starts at 30, you'll be 29 when you deliver so you should know pretty much by then. AHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH!

I know that a lot of this is internal pressure. I have always put a lot of pressure on myself. I am trying not to do that. I really, really am. I also recognize though that I need to precess this. I NEED TO. I am trying to process all of the stuff that comes with me, myself being a carrier. The stuff that possibly comes with my body, my ovaries, my future mental capacities, my future physical capacities, my possibilities of future children, who I am physically and mentally today and are they related to being a carrier, all of that. Realizing that things I considered as "guarantees" in my life aren't anymore. I am also trying to process for the child within me all of the stuff that comes with the fact that they are carriers. Their future mental capacities, their future physical capacities, their possibilities of future children, who they will be physically and mentally and will they related to being a carrier, all of that. I am also trying to decide and process for the possibility of other future natural born children I may have. It.is.a.lot. A lot, a lot. I'm trying to give myself time and patience and love and reminding myself to be grateful.

But also I am pissed off. I am sad. I am mad. I am enraged. I am fed up with the medical industry. This is the MOST COMMON form of genetic disability and no one knows about it. 1 in 260 women are carriers and 1 in 800 men are carriers and no one knows about it. There are clinics and support groups across the nation (and world actually) and no one knows about it. It's more common than childhood diabetes (About 1 in every 400 children and adolescents has diabetes [http://www.diabetes.org/diabetes-basics/diabetes-statistics/]) and no one knows about it. It's almost as common as muscular dystrophy and cystic fibrosis and yet NO ONE KNOWS ABOUT IT.  I'm not making this up. It's all over the place it's just not talked about like CF or MD or Autism or Down's Syndrome. And I don't know why that is. I really don't. I read the following things like this and this and even this and have to wonder-HOW ARE WE NOT INFORMED AS A PUBLIC ABOUT THIS?! Why is this so unknown, misdiagnosed, etc. when it is the most common genetic cause of disabilities? I get really angry about it. I really do. I know that I am a bit skewed in my view of the industry that is medicine anyway after my ten year spine battle but it should not be this much of a fight over common issues. I found out the state of Michigan (where I am originally from) doesn't test for this like it does with CF, MD, Down's automatically when maternal blood panels are done. Oh and if you ask to be test it's $1500 to test for FX unless you can convince your insurance to cover it. WHAT?! That is disgraceful, it is just as common as the other issues yet it is not being tested for. Please believe it isn't just good ol' MI either, this happens in MOST states in this country. Yep, most states DO NOT test for Fragile X unless the parent specifically asks for it. I call a mega-hardcore BULLSHIT on that U.S.A. That is totally idiotic. No other way to put it. Again, the most common genetic cause of disability is not being tested for in a pregnant woman's blood panels. Riddle me this, WHY?! There is no answer. Literally none. I've been asking.

My own OB (whom I adore) who has been an OB/GYN for 20+ years had no clue about this because it is not talked about. She has taken it upon herself to get cozy with my genetic counselor and learn as much as she can and has been SO supportive (she even called us whilst she was on her vacation to check on us) but she still had no idea about this. WHAT?! Medical Industry: I am calling you out son. You and I are going head to head here buddy. You suck. You are not doing your collective job to care for and inform and treat patients. Most people don't find out they're even a carrier until their child/children is/are diagnosed with a full mutation and have Fragile X Syndrome. That is not okay. For once, I want the people in charge (Surgeon General, FDA, all of the agencies/groups/people in charge) to be folks like me who have had some sort of medical issue they have had to fight over and advocate about to make the decisions. I'm sorry unless you've been in hospitals, working with doctors, calling insurance companies, fighting with billing, etc. you don't know what it really means to deal with the industry that is medicine. It is an industry. It is a straight up business which unfortunately does not have the patients interests at heart. So many lovely doctors and nurses and professionals do have our interests at heart but the industry in general does not. I'm frustrated and angry about it.

It is a lot. I know the hormones don't help, I know that there is a little bit of time, I know most everyone who is talking to me supports (and usually loves) me but I also feel torn, sad, angry, happy, excited, and frightened. Anyone who tells me not to has a death wish. I'm crazy hormonal enough that I could snap one day in these next months, it could happen. Don't get me wrong I am still enjoying what I can, laughing when I can, loving when I can and that is pretty often. I am, however, also in turmoil. These thoughts/feelings/fears/risks/issues are on the front burner and not the back and I can't move them back there. I just want to talk to people who really get it and for those who've not been here to think before they speak and to tread lightly. I found the FXS group that is on Facebook that is the National and International go to board, they have helped a lot. I just need someone in real life I think. I might reach out to the support group here in Los Angeles that fragilex.org lists. It's worth a shot. Right now I am very overwhelmed with feelings and thoughts and just want to chat with someone who is also here or been here.

Blerg. So that's what is going on here. Crazy train party of one. Well I guess two, poor baby is on the ride as well. We did find out what gender the baby is so I'm trying to set up a photo shoot, calling all Los Angeles photographers who won't kill my pocketbook, wanna shoot our crazy little family with some colored balloons outside? Yay or Nay? C'mon crazy is fun, right? Even I can't fool myself with that one. Oh well.

Hope all is well with you and your dear chickens! :)

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