On Our Toes

Emmie.   Our dear girl.  With all the business and craziness a large family entails, this little one does not want us to forget she is here.  From the beginning, she has wanted to make her voice heard and I pray she does that for the Lord's glory.

We've been waiting to write this until we had a confirmation.  Waiting and thinking.  And yet, I would try and think of what to write and I had nothing.  Nada.  How does one go about discussing a life changing diagnosis.  And especially when it involves your baby.  I guess we start at the beginning.

It began with a few coffee/milk color spots.  We noticed one on her leg.  I decided to look up what those birthmarks were called and Dr. Google delivered way more than I ever wanted to know.  After finding out that the spots were cafe-au-lait spots, I did a glance over on Emmie.  She had seven.  Hmm, interesting.  Dr. Google told me that six or more indicated a genetic disorder but could really be nothing.

So, we waited two weeks.  We waited until Emmie's check up.  As those fourteen days crept by, we noticed more spots starting to form.  Getting darker.  By her appointment we were up to at least sixteen noticeable ones.

Our pediatrician confirmed our fears and started the referral process to specialists.

Today, we met with a geneticist in Atlanta.  And what was suspected by our pediatrician was confirmed by the specialist.  Emmie has a clinical diagnosis of neurofibromatosis type 1 (NF1).

While the chances of this being life ending are extremely slim, there is a greater chance that it could be life altering.  There are a lot of "well, we just don't know right now"s floating out of our mouths.  This is a genetic disorder that has an extremely wide range of complications and, as of right now, there is no way to predict what to expect.

Here's a video from Children's Tumor Foundation (one of the leading researchers in the field of NF) that starts the explanation (this is also a plug to support their foundation...just fyi):


Here is a link giving a bit more information on NF.
Information on NF1 can be found here.
And here is information on the different types of neurofibromas.

Right now, Emmie meets the criteria to be diagnosed.  I'll try to answer some questions but if I don't cover a question, please feel free to email us.  We are willing to talk about it.

She has six or more cafe-au-lait spots and, according to the geneticists and our pediatrician hers are classic spots.  She's getting more.  They are barely noticeable in some light.  Apparently, the darker your skin pigment the easier it is to see them.  Emmie is very pale so at times it's hard to spot them.  But they are there.  On her thigh, trunk, neck, arms, legs.  And she is getting a few more.  Some of them really look like light colored freckles.

She also has freckling in the groin area (okay one freckle).

We knew about these two symptoms going in to our appointment today.  However, another complication was also confirmed today.  That one took my breath away.  We noticed some swelling at the nape of her neck just before her two month check up.  Of course, we  mentioned it to Dr. B.  She checked it out and felt that it was just a lymph node.  But, it's gotten a bit larger.  How much larger, I'm not sure since we didn't measure it but it is noticeable that one side of her neck is swollen.  The geneticist confirmed that there is a strong possibility that it is a plexiform neurofibroma.  Because the neurofibroma appears to be growing, we have requested an MRI to rule out any complications from it.  That will happen some time this month.

Right now, Emmie is growing and developing right on track for her age.  She is right on the growth curve in all areas.  She is hitting all of her milestones full force.  And she continues to be a delight (well, when she's not overtired and screaming), to her brothers, sisters, mommy and daddy.  Please don't pity her.  Please don't pity us.  Emmie is a blessing.  A gift from God.  I could not imagine our family without her.  And I am so very grateful that God chose us to be her family.  I don't think any one could love this girl more than her mommy, daddy, brothers, sisters, grandparents and a slew of cousins plus could.  So, please no pity.  A hug if you see we got a little emotional and are crying. Prayers with and for us are also wonderful blessings.  But pity...we just don't have time for that.

This is getting long.  I know I need to end.  There is so much to say but yet I don't want to bore any one.  I am keeping a journal.  On real pages. In my sloppy ol' handwriting.  And I'll share more from it and from my heart later (preferably when I've had more than a few hours sleep).  Please know we feel blessed and know that I can see God's might caring hand at work now more than I believe I ever have.