The First Worst Day Ever, part I

For the month of May, in honor of brain tumor and NF awareness month (so convenient to have them at the same time!), I am trying to tell our family's story of living through both.  I hope that by the end folks have a sense what brain tumors and NF can do to a family, why and how we can work for better treatments (and maybe a cure!), and why we should always, always hope.

May 5

This one might be a little long. Ok, it IS long. sigh. And I don't think there will be pictures.

G’s eye check on August 3 was really not particularly dramatic.  She did have some issue seeing some of the letters on the chart, but I was not super concerned. I got glasses in kindergarten, I figured maybe she was nearsighted too, even though Dr. C said that G’s problem didn’t seem correctable. The vision issue was slight (not even 20/50), but Dr. C couldn’t fix it with those little lensy things she had, so she said we probably should get an MRI.

You would think that somewhere some warning bell would have gone off in my head, but she didn’t seem worried. Heck, I didn’t feel all that worried, I knew maybe we’d have some kind of optic issue but I wasn’t that worried.

No, I am not the sharpest crayon in the box all the time.

Dave & I were set to go away for a 10^th anniversary trip to Cape Cod the week after G’s eye check, so I set the MRI up for August 30, after we came back but before school started.  I didn’t want G to miss any of the beginning of first grade. 

Our trip was awesome. Just amazing, we loved everything, we talked about bringing the kids to Cape Cod, we talked about what we wanted for our family in the next 5 years or so, we made plans and dreams and joys together in that magical week.

And God laughed, not the nice kind of laugh.

We came home refreshed and full of renewed energy for parenthood and life and mayhem.  I assembled the school supplies the kids would need, got all the uniforms ready, just prepped for fall.

Monday, August 30, 2004, we brought G for her MRI. We had promised her Burger King after the scan, knowing that she had to fast before sedation.  Once again she fought the meds, but then she slipped off to sleep and the techs wheeled her away. 

Dave and I sat in the waiting room, he went to get us coffee while I tried to block out the daytime tv blaring over my head.  I think Bill Cosby was on some talk show, which was entertaining for a moment.  A dad and son came in to get the son’s leg MRI-d after a sport injury.  I wrote more melodramatic poetry about how scary it was to be back in this spot again, waiting for a scan.

Finally G was done, they gave her back to us, she woke up, and we went off to Burger King.

I think now about those techs, those people who saw the scan, and then gave my 6 year old curly haired diva G back to us. I think of those folks, and I think of  how much that day must have sucked for them.  They knew. We didn't, and they knew what was going to happen to us and they couldn't tell us or do anything...I feel so bad for them.

As I type this, G just came over to give me a “homework stress” hug.  I needed a hug right now, too.

We got the requisite happy meal and then Dave dropped us off at home while he went back to work.  I told G when she was less post-sedation we’d get her the promised Care Bear. Hey, bribery should never be underrated.   The kids were playing and watching PBS or something, I don’t even know, I just know it was warm and sunny and I had the windows open.

The phone rang around 2:30 or so, it was the eye doctor.

Wow, that was so fast! I was so relieved, I thought I’d have to wait a day or two for results.

Foolish, foolish mortal. Oh, stupid girl.

 MEDICAL LIFE LESSON ALERT:  Phone calls an hour after getting home from a medical test of any kind ARE ALWAYS BAD. EPICALLY BAD. SUPER BAD.  AWOOOOOGA! BAD IN BIGGER THAN CAPITAL LETTERS BAD.

The eye doc told me that I needed to call our pediatrician, the scan had showed something, a lesion,  there was new medicine called temodar that you could do at home that could take care of things, this mass, but I should call our pediatrician, I needed to call him right away, he knew I’d be calling (ie so I would be able to break through the Great Wall of China that is the pediatrician’s reception staff) and I needed to call right away.

I was so grateful for the call. “Thank you SO MUCH for calling so fast, I really thought I’d have to wait, “ I told her, so relieved. 

I cannot even fathom what she thought, she just told me no problem, make sure I call the pediatrician RIGHT AWAY.

I called Dave first, told him that there was some kind of lesion but I just had to call our pediatrician and he would give me the fuller report.  Dr. C hadn’t made it seem like a big deal, so I would call and let Dave know what the doc said. Dave was cool with that, so was I.

Deep breath.

So I dialed The Pediatric Center, and SO WEIRD, the nurse answered and got all crazy efficient and put me RIGHT THROUGH to the doctor. I couldn’t believe it! Right through!

Yeah.

MEDICAL LIFE LESSON NUMERO DOS: IF THEY PUT YOU RIGHT THROUGH TO THE HEAD OF THE PEDIATRIC PRACTICE INSTANTLY WITHOUT ANY TIME ON HOLD THAT IS NEVER A GOOD THING. EVER. NOT EVER.

“So Dr. C told me to call you…” I said.

And then my world crumbled.  Like, “things fall apart/the centre cannot hold/mere anarchy is loosed upon the world/the blood-dimmed tide is loosed/and everywhere, the ceremony of innocence is drowned” . . .

And that is not melodrama, thank you, Yeats. That was how it was.  :(


as a side note, tomorrow is once again an MRI day for Genna. A sign of hope, nearly 9 years later we still have these days. But oh they are so hard, and the stakes are so high. Please pray for us.

Beginnings

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 www.nfcalifornia.org) :

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.