Friday, September 21, 2012

What Makes You Think You Have NF?

I just got back from the Drs.  I swear, I have seen the Dr. more times in the last 6 months, than ever before in my life!  This wasn't for NF related stuff, surprisingly.

I have ulcers....Thanks to a little bacteria in my blood called H-pilori.

I've been having a lot of ulcer-related symptoms, so I thought I'd go in and get it checked out.

The tiny office I go to was swarming with other doctors...Most of whom I have never seen before....Some sort of conference was going on, I'm not sure.

Anyways....I get to my room (but first stopping to weigh myself...And I have to say that I was actually excited to step on the scale!  I have been TRYING to lose weight actively since February of this year and been pretty successful at it!)  
The nurse tells me to strip down from the waist up and wear the lovely paper napkin shirt...So I do as I am told and sit on the exam table for what feels like an hour....

Wait Wait Wait

A nurse pops her head in to ask me if it would be alright if one of the visiting Drs comes in to "have a look at me".....She goes on to say that "Neurofibromatosis is SOOOO rare, that some of the doctors were wanting to see me....." 


I smile and say- "SURE!"

A few minutes later, a handful of nicely dressed doctors come into the room, squeezing around the exam table.  I shake hands with a few and smile my sweet....(great I'm a guinea pig) smile.

"So...What makes you think you have Neurofibromatosis?"

HUH?  Was I seriously being asked this?

I bite my lip and gulp down a lump in my throat.


I open my paper napkin shirt and showed them WHY I think I have Neurofibromatosis.

Yeah...So I flashed these doctors.  What was I supposed to do? :)  (Krazy Kristi winks)

The drs asked if they could exam my back as well.......I tell them, 
"Well it's not nearly as attractive as my front, but go ahead!"  :)

I gave a brief family history ---"Mom, brother....."

One doctor told me that NF was REALLY rare, and it was nice to meet me....

I explained to HIM, that Neurofibromatosis was THE MOST COMMON GENETIC disorder know to humans....and that it was NOT so rare.  Impressed -The Dr again shook my hand.  I thanked him for his willingness to learn....then everyone scooted out.

Ok...?  I was alone again for a few minutes, when my regular DR came in.....

I left the doctors office feeling....I don't know....Weird.   Did I teach those drs anything?  Would any of them think of NF differently?  Could I have done MORE?

Anyways...I put myself out there--I guess THAT'S what matters.



  1. When I was pregnant for my youngest, out oldest son developed a serious complication of NF. Until that time, we did not know the name of what we had. We have a long line of relatives with NF but no one knew it had a name or that other people had this. We also didn't know about all the other problems that could develop. So when Peter developed his complication, our doctor insisted we see the genetic clinic at the neighboring university. Once there, they were thrilled that I have axillary freckling. The doctor asked if other doctors could see it. So there I sat, arm in the air, breasts covered and about 11 doctors walked in and stared at my armpits. They all thanked me very kindly and left. One of the stranger incidents in my life.

  2. I've had similar things happen! :)

  3. Great post again and congrats on losing weight! I wonder if NF is soooo rare, why do so many people I know have it. Two in my little town alone (that I know of). Thanks for taking strides to educate people. You are amazing Kristi!

  4. That's exactly how I felt, a guinea pig, when I went to the docs the second time after I was diagnosed. That year, I thought of trying Homeopathy, they were offering this year long course and I wanted to see if it brought some changes/improvements in my health. There I was assigned a doctor and asked to visit them every month, and each month it was a different doctor examining me, then it all came clear to me...they have seen cases like this for the first time in their clinic, hence everyone wanted to have a look.

    Unlike you, am the first one in my family to have NF (none of my grandparents had it as far as i know), so when asked by the doctors what I think is the possible reason, I just slammed it to the tiny yet major culprit called 'Mutation'. lol!

    NOw,further more research on the internet made me realize why I had a big head as a kid and I took the longest time to be able to walk, and why I have an abnormal cheek structure. And how my cafe-au-lait spots all over my body as a baby were the first sign, they were taken as mere birthmarks till the year I was 15 and tumors/lump spreading. At least, I know one thing for sure now, I will be more careful and aware of it when it comes to my kids (future kids) :) .

    Thank you! You are an inspiration to us many. :)