NF Management 101 , or, Hey, Maybe things WILL be Alright.

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 3


After the shock of realizing G had NF, I started to search the internet. We only had dial up then, and a big clunky computer, but I managed to find the Children’s Tumor Foundation website and a bulletin board of parents of NF kids. I bleated out my pitiful tale of new diagnosis, and a mom reached out to me, talked me off the ledge, gave me hope. I am forever grateful to momma Beth for those e-mails, those words of encouragement. Her daughter was on chemo for brain tumors (ooooh yikes), but she seemed to be doing ok. I tried to wrap my brain around what NF would be for G. . . but it was too scary.

Bizarrely, (in retrospect) I was mostly scared about cosmetic stuff for G, the bumps that can come with NF (ie fibromas, small tumors on the skin). I knew kids had been HORRIBLE to Dave when he was a young teen, all because of his bumps…I knew that I might venture into uncharted levels of fierce of anyone messed with G. Well, maybe not “might venture”. I had always felt hideous as a teen, NF could not make my beautiful girl feel like that.

(and this was before we knew about TLC and programs such as "My 200 lb tumor", which generally is about NF patients. sigh).

Our pediatrician wasn’t super concerned, he did suggest that we see a neurologist and eventually get a baseline MRI for Genna, and that as soon as she was old enough we should start getting her eyes checked every year by a pediatric ophthalmologist. (ophthalmologist is quite possibly one of the hardest words to spell Ever. It took me twice to get it right here, which annoys me.)

We only told a few close friends and family. . .and then we tried to go on with life. Genna was a roly poly ball of fun and attitude, her big brother was a strong willed but curious and energetic kid, we had our hands full WITHOUT worrying about NF.

And really, things were ok.

At 14 months old we did get G that MRI, it was a nightmare trying to sedate her, she had to drink this awful purple sedative (maybe versed?) and she kept fighting the sedation, staggering around like a drunk sailor (we kept trying to hold her, but she kept fighting to walk around). The tech told us, “she is a feisty one!”. Yes. Yes she is. I sat in the waiting room and wrote melodramatic poetry about my baby girl. Like with references to “khaki clad doctors munching chips” (they were) and “tigress claws protrude”. Good stuff. Don’t know WHY I’m not poet laureate yet.

To our great relief, the MRI came back clear. The report noted that G had some UBOs (Unidentified Bright Objects. I’m not kidding. That’s what science came up with to identify these marks in the brains of NF patients. Seriously. The coffeemaker in the lab must have been broken that day or something). Otherwise, her brain was healthy. No sign of tumors.

I was so relieved, I had prayed and prayed particularly to a certain saint (it’s a Catholic thing; we figure folks who are in heaven have time and a mission to pray for those of us still down here. It’s kind of this cosmic solidarity thing that I frankly really appreciate about being Catholic). ..this answer to prayer seemed a direct result of those novenas I had prayed and prayed. St. Teresia Benedicta of the Cross was my NF optic glioma go-to saint…because that is what the MRI was looking for, the optic nerve tumors that list references, and we had scanned on Yom Kippur, which had relevance to St. TBotC. I figured that was a Sign from God. (I say it with capitals, that’s just how it comes out, I was so relieved).

(as a weird side note, optic glioma as a diagnostic criteria was only recently added to the list, based on research. Yay, science. Woo. Glad to help with that.)

Genna’s eye checks each August were also fine. A nightmare (if your kid has had to go to an eye doctor as a preschooler you know what I’m talking about), but the doc was good and G’s vision was perfect. Phew!

Eventually I even stopped being on the CTF board so much, the stories of families in really dire NF predicaments were freaking me out. Our life was full.

When G was 3, we decided I could try to get through another pregnancy, and we found out we were expecting just after the attack on the World Trade Center. 9/11 was intensely painful where we live (NJ), and after that I just had this horrible feeling of impending doom (great thing when you are trying to have another baby, right?) . I just felt like other bad things were coming. No joke, I knew something terrible was going to happen again. Sigh. (cue menacing music).

Just after Christmas, Dave’s grandmother became very ill. After a lot of confusion, doctors finally diagnosed her with a malignant brain tumor. Grandma was past 80 years old, she decided not to endure harsh treatments that would do little to extend her life, and within 2 months of diagnosis she passed away.

This was our first, horribly painful moment of personal brain tumor awareness.

Our grief over losing Grandma was somewhat assuaged by our Rosie’s birth in May of 2002. Rosie was peachy and fair, the opposite of Genna, and she was also round and healthy and perfect. Yup, smitten again!



I was in a hurry, and having a ptsd fest over looking at old pictures, so I just picked this one.
She looks like Andrew, right?


Aside from grief and that feeling of doom, things were good. Firstborn was in second grade, G was going to start preschool, we had a beautiful baby. . .

Genna was way into the baby thing, she would set her dolls up right by Rosie.

I miss those days. I hardly remember them, even writing this I have to think hard to remember what life was like then. We camped, we hiked, (Genna hated both activities even then, admittedly), we went to all of firstborn’s tee-ball games, Genna did ballet (which pretty much meant she twirled around to the beat of her own personal drum), we picnicked with friends and family, we were very involved in a prayer group and my son’s school.

But when G started kindergarten in 2003, things started to seem not quite right. NF was about to make its true self known.

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.