I did it!!

I sent the email to her doctor to request info regarding the connection between NF1 and learning disabilities.  It took me a while to write it.  You are probably thinking I am being irrational.  When I write an email, such as this, I would compose it like a letter, with an opening sentence/paragraph, before stating my request. 

How would I open this email:

Hi Dr. X:  Thank you for meeting with us on 20 April...

I can't thank him for that...thank him for this diagnosis, it just seems odd.  I know he didn't do anything to make our daughter have this, no one did.  Just a random fluke when her genetic code was being written.  But still.

So I just cut to the chase and asked him for the letter, of course I was pleasant and thankful. 

I am going to take this opportunity though to introduce NF to the school by taking a fact sheet.  From what I've read thus far on NF, it is the most diagnosed rare disease and is even more common than cystic fibrosis, Duchenne muscular dystrophy, and Huntington's disease combined. 

Denial

Well, I seem to be in denial.  I was thinking about reaching out to my daughters NF doctor to ask for a note for school.  She is going to be re-evaluated for her IEP (Individualized Education Program) in the coming weeks, she has been doing so well in school this year (most recent report card straight A's!!) that the special education teachers are going to recommend taking away some of her services.  She has been receiving help since the 2nd grade...long before the NF1 diagnosis.  Apparently learning disabilities are linked to NF.  She is behind grade level in reading, which naturally affects other subjects. 

Even before the NF1 diagnosis, I wanted the teachers to keep her at the same level of help for the 9th grade because the transition from middle school to high school could be stressful without the added changes.  I simply didn't want them to pull the carpet out from under her.  Now with this new knowledge of learning disabilities associated with NF, I think a note from the doctor would be nice to have.  But this raises a couple issues for me...

1)  Do I tell the school of her diagnosis?

2)  Requesting the note from the doctor makes this far more real...not having any troubling NF1 symptoms, other than the spots, is helping me to stay in denial.  Geez, I would love to be able to stay in this denial my whole life.  That would mean NF1 would never progress in her!!

I think the rational me is going to win out here though, but only for the motive of getting them [the school] to do what I want.  I'm looking at this note as my ammunition to keep her at the current level of help.  Kind of like I'm taking advantage of the NF1 diagnosis.  I guess that's not a bad thing, have you ever seen the slogan, "I have NF, NF doesn't have me."?      

The Unknown Road

When our children are born, we spend time studying them, counting fingers and toes, looking for birth marks, discovering who this little baby is.  We compare their marks to our own looking for similarities between us. 

Our oldest daughter (now 14) was born with multiple café-au-lait spots.  They are coffee colored spots of varying size and shape.  I always thought they were kind of cute.  Apparently these spots can be an indicator of a genetic condition called Neurofibromatosis if they meet certain quantity and size requirements.  Our doctor had her evaluated for NF because of the spots at 4 months old.  She wasn't diagnosed with it and we thought we were in the clear.  Apparently we were not.

In January when we took the kids to their regular pediatric check up, our pediatrician recommended taking her to the local Neurofibromatosis Center for an evaluation.  She discovered a new symptom, freckling in the arm pits.  (The frantic mother in me starts wondering:  When did these freckles arrive, was it just in the last year, five years ago and we are just noticing???...when?)  We had the appointment at the NF Center this past Friday and our daughter was officially diagnosed with Neurofibromatosis, specifically NF1.  NF1 comes from a genetic mutation on chromosome 17.  Nothing we did could cause this, its just something that happens as the cells divide at conception.  There are other forms of NF, depending on which chromosome has the mutation.

No doubt, this is very unsettling to me, honestly, I am scared shitless.  There are so many aspects of this that I cannot wrap my head around.  But as my brain processes this and I begin to rationalize, it seems to get a little easier to grasp.

First, this is not a life threatening condition.  Thanks and Praises to GOD!

I find it rather difficult to understand how someone could receive a diagnosis for a condition with just looking at their body.  No blood work, no testing, just appearance.  I also find it difficult to get diagnosed with a condition without feeling the need to go to the doctor in the first place....no symptoms.  For that though, I am really grateful.  She has no symptoms!  My brain is churning in the background thinking up all these possibilities, wondering, running scenarios; such as, is it possible to have these café-au-lait spots and freckling in the arm pits and NOT have NF1? 

So at the appointment we learned a bunch of nothing.  We learned that the condition can range from very mild to severe, and there is no telling what you will individually experience until it manifests.  We learned that 50 percent of people inherit it from their parents and the other 50 percent are the first in their family to have it.  We learned that 1 in 3,000 are diagnosed each year and that 13 new cases are diagnosed in Baltimore alone annually (I have never met anyone with it).  We learned that there is no treatment and no cure.  And our instruction for the road ahead, come back to visit the "spot doctor" at the NF Center next year for a check up.  I think all this combined is why it so hard for me to wrap my head around.  It's like I am sitting here just waiting for a ton of bricks to fall on my head out of no where.

Does my daughter understand all this?  Does she feel the same way I feel?  Are we supposed to talk about it?  What are we supposed to say?  Do we tell anyone?  How do we prepare ourselves for the possibilities when they vary so greatly?  Where do we go from here?  Is there something I am supposed to be doing?  What type of questions am I supposed to ask her doctors? 

We've talked about it, but not in great detail.  Honestly, I don't know what or how to talk about this, I don't know anything about it other than what the doctors told us and we've been instructed to stay off the internet because of how scary the information out there can be.  I've told her to ask me any questions and I will get in touch with her doctor to get answers.  I guess we just end up living life as usual and as we travel the unknown road ahead of us. 

I will use this blog to air out my frustrations, scares, and worries because keeping this all locked inside has literally driven me crazy for the past several days.Oh, and if there happens to be someone out there reading this and you are interested in finding anything out about NF1, do not go to Dr. Google!  Check out these reliable sources of information that isn't as scary as the other stuff you will find.

The Children's TumorFoundation 

Neurofibromatosis,Inc.