Our {Wild & Crazy} Days: Olivia & NF1

The latest update: October 2013 Update

Olivia's NF Story

Olivia was born January 2007. When she was around a 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 experienced. The office was dingy, the staff was unprofessional, the partnership/office was in the middle of splitting and it wasn't amicable, the doctor had awkward bedside manners and the nastiest toupe - overall horrible horrible horrible. To top it off, the pediatrician took one look at Olivia's 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 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. And found a new, fabulous family doctor.

Our first genetic appointment was in May 2007 and we didn't receive any clear answers. We did receive basic NF1 information, but it seemed so removed from our sweet Olivia. 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. Kurt and I do not have NF1, nor does anyone in our extended family - Olivia has NF1 due to a mutation of her own genes (chromosome 17). As with many genetic disorders, there is no way to predict if Olivia's NF1 will be mild or severe.

Olivia's cafe au lait spots (birthmark spots) are only 1 potential sign of NF1 so we left the first 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. An appointment was made with a pediatric opthamologist (kid eye doctor).

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

July 2007

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 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.

July 2008

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 one year's time

A year later we were back with the eye doctor-

March 2009

July 2009

In November of 2009, Olivia fell from a shopping cart and fractured her skull. I rushed her to a nearby hospital, she was life flighted to Primary Children's, and spent 4 days there. She completely recovered, but the CT scans & MRI showed she now had an optic glioma on one of her optic nerves.

Skull Fracture Posts:

NF1 Updates Continued:

December 9, 2009

December 17, 2009

February 5, 2010

July 2010

2010 Chemo Scare - In May 2010 Olivia had a really bad eye exam. It seemed like she had suddenly lost a good deal of her vision. After a whirlwind couple of months of neuro-surgeons, cancer doctors, possibilities of surgery and chemo, everyone involved came to the conclusion it was a 3 year old having a bad eye exam. {Huge sigh of relief} These are the posts at the time it happened:

May 6, 2010 May 13, 2010 May 24, 2010

May 26, 2010 June 15, 2010 July 13, 2010

NF1 Updates Continued:

December 14, 2010

April 4, 2011

April 23, 2011

NF1 is a part of Olivia's life, however, it isn't her WHOLE life.

She is an active 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.