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.
