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July 20, 2006

Fifty Percent

Have you ever had a moment when you begin talking about something which leads to something else, only to become another topic, finally dissolving into some underlying issue you didn't know you were so distraught about in the first place?

With the back problems, scoliosis weirdness, carpal tunnel (going to the orthopedic surgeon in a week!), I've been cracking jokes about turning thirty regularly. It's irritating to feel like I'm already breaking down before I've even left my twenties. I don't feel especially traumatized about moving into another decade of existence, but it is definitely a milestone and for a lot of people, apparently me as well, it means you are supposed to be a little more grown up. No more bank of Dad. Taking responsibility for the choices I have made, and hopefully knowing a little bit more about myself than I did ten years ago. I don't think those are huge goals, but they are my goals at the precipice of thirty.

I do have a general angst about growing older and a fear of death. I blame my parents and their early insistence that when I accepted Jesus into my heart at five years old that I would never face the fires of hell as a Christian. Then when I came out as a lesbian at 19 suddenly I stood on shaky ground and the Lake of Fire opened before me once again. But I digress...

One of the things I did expect to do before I turned thirty was have at least one child. I was my parent's first child, born when my mother was 29, which always sounded so old to have a first kid. It hasn't been until the last few years that I really felt capable of even potentially being a parent. I know you rarely ever feel 100% ready, but I definitely knew I wasn't ready at 22 years of age, partying into the wee hours, getting 15 minutes of sleep, and pretending not to nap at my desk the entire next day. Kids would have put a crimp in that lifestyle.

Somewhere along the line I switched my thinking. Instead of a party of 60, lets invite over six people. Instead of a keg, lets have wine. I'll skip the pot and coke lines, we'll just sit and chat, thanks. While this may sound a whole lot boring, it increased my daylight productivity considerably and allowed me to have actual conversations and relationships not based on questions such as, "Where's the bathroom at?!?" screamed over bad dance-techno.

So flash forward to me, sitting in the therapist's office on Wednesday morning, in tears discussing my lost relatives who will never see my unborn children as well as the living relatives who are simply dying for Frinklin and I to have kids but are nearly biting their tongues off in an effort to stay quiet. The therapist's response is this:

Therapist: "So, it sounds like you do want kids then? And Frinklin wants kids?"

Me: "God, yes. We thought we would have them already."

Therapist: "Then have them!"

Me: "But...work...and...um...what would I do...uh..."

Therapist: "Look, people have kids all the time. You just have them. No one is ever really ready for them. Stuff works out. You own a house. You are relatively financially secure. If you have to work, you have to work. If you don't, you don't. If your relatives can help, they will. You have a good job. You work part time at home. You work for a progressive company. Frinklin will eventually be working at home. Your Father-In-Law works at home. Your parents are looking at moving up here. You'll figure it out! Go have some kids!"

Me: "Um, OK."

----------

If only it were that simple.

Once upon a time my Mom informed me that I had a weird genetic disorder when I was born and that I may need to look into it before having kids. Over the years I've mentioned the name of this disorder to most of my doctors, all of which have shrugged and said, "Never heard of it, but you seem healthy. I wouldn't worry about it." Apparently that's the wrong answer.

After researching Incontinentia Pigmenti (IP) on the web for a couple of hours last night, it seems that I could have serious problems with a pregnancy. IP is a very rare genetic disorder (in fact, it's part of the National Organization for Rare Disorders). The reason none of my doctors have heard of it is because most of them will never see it in their lifetime. When I was born I visited doctor after doctor just so that they could see what IP looked like, because they would likely never see it again (but just in case).

IP affects the X chromosome of a developing fetus and males are miscarried 100% of the time. I have a 50% chance of having a normal child, boy or girl, and a 50% chance of having an IP child, boy or girl. If it is a girl, she may be relatively normal, like me, with almost no permanent side effects. Or, she could have a myriad of nightmarish problems that encompasses pretty much every birth defect imaginable. Either way, the first year or two of life involves a series of plague-like rashes of boils, blisters, warts, and pustules. Pretty. I'll be finding out the details baby's first plague on the phone with my Mom this weekend while completing a questionnaire about myself for the Incontinentia Pigmenti International Foundation.

So now there may be rounds of genetic counseling and testing. Fortunately the testing itself is free, and for your convenience, there are three labs available in the world that will test for the NEMO (IP) gene. One in Texas. One in England. And one in Italy. Weirdly enough, there is a genetic specialist that sits on the IP International Foundation Advisory Board located in Ann Arbor, MI, where I will be in just over a week. I don't know if I should call or not.

Updates on this fun topic as time goes on. I'm sure this is fascinating reading for everyone not effected by a completely rare genetic disorder. In a conversation with my sister, Katie, this afternoon she made me laugh, I know exactly how you feel. Everyone wants to give money to breast cancer and muscular dystrophy, and whatnot. No one wants to give money to those of us with epilepsy. It's like, hello?! Here I am, down on the floor waving and shaking�
.

Posted by Ensie at July 20, 2006 08:31 PM

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Comments

How did your mother know you had it? Was she in the same situation you're facing (that you were in the 50%?)?

I would definitely make that call. That's fate whispering in your ear ;)

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