Wednesday, June 29, 2011

Olivia's NF1 Story

I've wanted to put Olivia's NF1 journey together in one post for some time now.  I've typed up the beginning and included the links for all the updates I've blogged about.  I will add links as we have more updates. 

July 2007
Olivia was born January 2007.  When she was around 1 month old I noticed two birthmark-like spots on her torso.  I knew they weren't there when she was born and wondered if I should be concerned.  However, our family was in the middle of moving so we didn't see a pediatrician again until she was around 3 months old- April 2007. 

This pediatrician visit (a late 2 month well-child visit) was, and is still, the worst doctor's visit I have ever been a part of (aside from Olivia's skull fracture).  The office was dingy, the staff was unprofessional, the doctor's partnership/office was in the middle of splitting and it didn't seem amicable, the doctor had the nastiest toupe - overall horrible horrible horrible.  To top it off, the pediatrician took one look at the spots and spouted out the longest, scariest sounding word I'd ever heard -

NEUROFIBROMATOSIS. 

He offered no explanations- no why or how or genetic information or traits of the condition or anything.  He did make us an appointment with a medical genetics specialist at Primary Children's and wrote "neurofibromatosis" on a post-it note when I asked how it was spelled.  We got out of there as fast as we could and I cried all the way home, partly because of the horrible experience and partly because of the big new word that had entered our lives. 

At home I tried searching online for more information and all I found were scary, extreme situations and pictures, and quickly decided that for my sanity I couldn't look any more.  So we waited. 

Our first genetic appointment was in May 2007 and we didn't get any clear answers. We did receive basic NF1 information, but it seemed so removed from our sweet girl. With NF1 around 50% of people who have this disorder inherited it from one of their parents and 50% of people who have this disorder are the result of spontaneous genetic mutation (I always think of superheroes when I say that, but I promise no radiation was involved!).  Kurt and I do not have NF1 - Olivia has NF1 due to changes in her own genes. As with many genetic disorders, there is no way to predict if Olivia's NF1 challenges will be mild or severe.

 Olivia's cafe au lait spots (birthmark spots) are only 1 potential sign of NF1 so we left the appointment with a "maybe."  The genetic doctor was also concerned with a slight bowing in Olivia's legs, possibly due to bone dysplasia. Her legs were x-rayed and no signs of bone dysplasia were found and they no longer have any bowing.  An appointment was made with a pediatric opthamologist (kid eye doctor).

 For more info on the signs of NF1 -  Link-Diagnostic Criteria 

Olivia's first eye appointment showed her vision was normal and no additional signs of NF1 were found in her eyes.  The eye doctor was concerned with a slight proptosis of her left eye (a forward displacement of the eye), possibly because of an optic glioma, so he ordered an MRI of Olivia's the orbits (eyes) and brain. This was done in September 2007 and showed no signs of an optic glioma or other manifestations of NF1. Olivia's proptosis is normal for her.

 We saw the genetic doctor again in November 2007.  Now there were a few more cafe au lait spots and more freckling in areas where the sun doesn't shine.  The genetic doctor also found a couple dermal neurofibromas beginning to emerge on her back.  Just like that she went from a "maybe" to "certainly."  Olivia had NF1.  Yet, aside from these "surface" concerns, there were no major worries. Her development, physical and cognitive fell well within the "normal" parameters.  We were already scheduled to see the eye doctor again 6 months from the first visit and would follow up with the genetics team in 1 year.  

We saw the eye doctor again in March 2008.  Olivia's vision during this time remained stable and there were no other manifestations of NF1.  We scheduled to see him again in 1 year's time

 I have blogged about Olivia's doctor visits related to NF1 in the following posts:
Skull Fracture Posts:

NF1 Updates Continued:




 2010 Chemo Scare:

NF1 Updates Continued:

 December 14, 2010



Olivia is super brave when she gets an IV and doesn't cry anymore.  This last time she wanted to watch it happen.  She's friends with Valerie, the nurse she usually has when she gets an MRI.  She knows she'll get to watch the trains in the lobby at PCMC and we always try to guess which elevator we get to ride in (elephants are her favorite).  She knows what toys she wants to play with at the hospitals/offices and where the cafeteria/vending machines are so we can grab an ice cream or treat after appointments. NF1 is a part of Olivia's life, however, it isn't her WHOLE life.  She is an active, normal girl who loves to be with her family, play with her siblings, go swimming, and ride her bike.  She gets into trouble (usually with help from her younger sister & sidekick, Jolie) and throws tantrums when she doesn't get her way. She likes cartoons and reading books.  She wants to be friends with everyone she meets. 

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