Thursday, May 2, 2013


May 2

So in October of 1994 I married that pamphlet toting guy. And at the end of October 1994 I got pregnant (yes, I know, SUPERFAST), and then I realized, in between constant throwing up for months and months and months, that I was terrified about my child having NF. When clutching ye olde porcelain goddess, inspirational music doesn’t appear when the specter of adversity rears its ugly head.

I was obsessed and terrified.

But in July of 1995 I had a perfectly healthy baby boy. He was gorgeous, big blue eyes and brown hair and juicy legs and arms and cheeks. Challenging as all get out (sleep? I don’t need no stinkin’ sleep!), but totally healthy. He had zero signs of NF.

but many, many signs of cuteness.

Yes, there are things to look for to diagnose NF. For a firm diagnosis patients have to meet at least any 2 of a list of criteria. My children were ALL born with ONE of the criteria met: a parent with NF. Remember in that awful long paragraph from yesterday? That “50% chance of passing it on” thing? Yeeks. Having a parent with NF is one of the criteria. The complete list is: (thanks to :

1. Six or more café-au-lait spots 1.5 cm or larger in post-pubertal individuals, 0.5 cm or larger in pre-pubertal individuals (kind of a light brown birthmark)

2. Two or more neurofibromas of any type or one or more plexiform neurofibroma (nerve tumors)

3. Freckling in the axilla (underarm) or groin

4. Optic glioma (tumor of the optic pathway)

5. Two or more Lisch nodules (benign iris hamartomas)(ie marks on eyeballs, only visible with a special lamp the eye doc has)

6. A distinctive bony lesion: dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex

7. A first-degree relative with NF1

And by 3 months, 6 months, a year, two years, my son had none of the other 6 criteria. Woo! I started to relax. Well, as much as I have ever relaxed about anything in my entire life.

At a certain point we realized firstborn was starting to act like a Crown Prince of the Universe, and that perhaps a sibling would be a good idea. We both come from large families (I am the oldest of 9, Dave is the oldest of 6…and the only one in his family with NF), so more kids was always part of the plan. It took a bit more trying than our first time around, but in October of 1997 we got pregnant with kid #2.
And this time around, in between constant throwing up, I didn’t much worry about NF. We dodged the bullet with firstborn, so…yeah. Maybe I was just so sick (I ended up hospitalized during this pregnancy when I hit the ol’ 103 lb mark. I am 5’7”. I’m not kidding about constantly throwing up), or just overwhelmed with already having another kid at home and still working part time, but I didn’t much worry.

Genna was born exactly on her due date, July 24, 1998, at 8:30 in the evening. (She still refuses to be late for anything). She was a juiceball of deliciousness, dark brown eyes like Daddy, dark hair like both of us, totally Italian looking, totally a diva pretty much from the moment of birth. We were completely smitten immediately, pretty much exactly as we had been with firstborn, which was awesome (and totally normal, but it’s always a bit of a surprise just HOW MUCH you can love each child as they come, so utterly and completely right away).

Juicy Couture, indeed.  Or, Diva In Repose.

G was healthy and developmentally on track, really nothing was amiss at all.

I had two gorgeous, healthy kids. I almost couldn't believe it, because I'm kind of a dork, these kids were so gorgeous...

see? Gorgeous. G was about 3 months old when these were taken, Andrew was 3 and 3 months.

G has always been an all or nothing kind of gal. All smiles, or All Oh No You Did NOT. But mostly smiles. 

And then in January 1999, while changing G’s diaper, I noticed the pale brown marks on her little round self. I guess because the weather had been cold and she was so bundled up, and even in the tub she was a slippery moving mass of juicy baby-ness, I hadn’t noticed before…but there was one mark, ok. Then I found another. And another. Not super dark, just light brown birthmarks, mostly a centimeter or more in size…

Yeah, if you look back at that list, café au lait spots are one of those diagnostic criteria.

My baby had NF.

And I knew it , I knew it instantly and I completely unraveled, it was a Friday afternoon, and I called Dave, and I frantically called my pediatrician’s office (we were already scheduled for G’s 6 month well child visit)—they didn’t freak out. I don’t remember Dave’s reaction at all. How weird is that? But I don’t remember.

I only knew that everything was different. And that nobody was going to know that my child had this disorder unless they had to…I didn’t want her judged, I wanted her to be free and joyful and beautiful in all the ways I had not been. . .

I was devastated.  My hope for G's future was shattered.

tomorrow: Secret Life with NF.

1 comment:

  1. I can barely read this without losing it. I can only imagine how hard it must be for you to put into words, let alone live it. I know you're not doing this to seek praise, but it's wonderful. God bless you for your bravery in posting this.