Tag Archives: Neurofibromatosis

Emmie’s Update

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In February, we had planned to have Emmie’s MRI and her neurology appointment.  Unfortunately, the night before her MRI, she was coughing and sputtering and having massive amounts of yuckiness coming from her nose.  She had a cold.  We all did, actually.  Not fun.

So, since she has to be sedated, we contacted radiology and they gave a pretty big ol’ fat no to the MRI that day.  We wholeheartedly agreed.
But before the MRI, Emmie got to hang out with Dr. W, her neurologist.  

That was his goofy grin…And check it out.   I am not touching Emmie and she’s not screaming!  Woohoo.  Obviously, she thinks he’s pretty awesome and we agree with her.
Dr. W said she looked great and is rocking standing up and doing all the things a nine month old should do.  He told us that based on her next MRI, we’ll determine her next follow up appointment.
Fast forward to March and we were able to reschedule her MRI for the 7th, this past Saturday.
Waiting for the super not fun iv stick

Our little hero was a trooper.  Her MRI was scheduled for 6 am.  We left Ge & Granddaddy’s by 5 to get there in time.  Tiredness does not even begin to describe how she was. 

She was aware this time.  Very aware.  And she mostly wanted Mama to hold her.  That means that I got to hold her through the IV stick.  Nothing can prepare you for your baby screaming and crying and trying to bury her head in to your chest because she knows Mama is safe and Mama is the one holding her letting these people stick sharp objects in to her.  I had to fight that Mama Bear instinct to scoop her up and run out the door (truth be told, I have fought it through each MRI).  However, since I’m the Mama, that means I got to take her as soon as she came back to the room too.

 She did excellent with anesthesia this time.  Her nurse said she was already waking up when they finished so she just carried her back to us.  She slept peacefully for about fifteen minutes and then gradually woke up.

After some mama’s milk, she had some daddy silly time while we waited for the discharge.

And the nurse surprised her with a fun balloon and super soft stuffed teddy which entertained her on the way home.
I wish I could say we had boring results from the MRI, but right now, it doesn’t appear that way.  We’ll know more when we talk to Dr. W and I’ll share more then.  The news is not entirely devastating.  Just hard to swallow.  Like one of those giant horse size prenatal vitamins.  Then again, it could be the ol’ WAW as my good friend Kristina calls it now.  Watch And Wait.  Our least favorite three words in the human language now.
For now, we appreciate prayers for Super Em or Miss Ems as we call her.  She’s our hero.  And she’s got lots of gumption to go along with that title!
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Breathing Easier…

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Mark and I traveled with Emmie to Emory to meet her neurosurgeon Dr. C on October 17th.  Her appointment was in the afternoon, so instead of loading up and staying overnight at Ge & Granddaddy’s house, we were able to arrange childcare (through an awesome babysitter, M, and friend, Kristina) and drive there and back.  Emmie did awesome for being in the car that long!  She has learned to be a great car rider with all our trips.

Driving down we laughed and chatted and enjoyed spending time together while Emmie slept.  But when we got there we both clammed up and tensed up. We honestly had no idea what Dr. C would want to do at this point.  We now had a better view of her plexiform than the first MRI.  We knew he had seen it in their joint conference and in his office.

Dr. C was very kind and basically told us that this was an opportunity for us to meet should we ever need his services.  Because the plexiform is not causing her pain or hindering her development at this time, he did not want to remove it.  He showed us where the plexiform is with the MRI images and showed us what part he would remove which would prevent a lot of nerve damage.  We discussed the different types of plexiforms.  He willingly, and patiently, answered our questions.  The gist is, she won’t have to have surgery unless it is causing her problems.  The plexiform is attached to the nerve that goes to her right arm.  As long as she continues to not have problems with that arm, then surgery is not needed.  He also told us that her case was brought up in joint conference (with all the “neuro” people) because the plexiform is rather large and a more “difficult” case.  He perfectly agreed with Dr. W’s protocol of following up in six months.

Dr. C said that of all the NF patients that are seen there, he operates on a plexiform about once ever two years or so.  He said it’s very seldom that his services are required for NF kids.

I think Mark and I both grew two inches when we left that office.  It really felt like a huge weight had been lifted off of me as we left.  My baby was going to be okay and no need to worry about surgery right now.  We enjoyed the rest of the day with a trip to the farmers’ market and a nice quick meal out before rescuing Kristina!

Thank you to everyone for the prayers!  We have felt them so much.  We are so blessed to have family and friends who willingly and lovingly are walking this journey with us.

I know I have a way to go before I can fully rest in the Lord.  I know He is in control of our precious Emmie but it’s tough letting go and trusting Him it always is.

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What we know

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-Emmie had her MRI on August 16th.  She did amazingly well and Mark and I pulled through with a few tears but we made it.  It helped that she fought the sedation instead of going in to a deep sleep.  She’s a fighter.

-The MRI showed NO neurofibromas (tumors) on her brain or optic area (a concern with NF).

-What we thought was a plexiform neurofibroma, is a plexiform.  It extends down to her spinal cord but is not yet pressing on anything which would cause problems.

-Because of the location and the fact that the plexiform is increasing in size, our pediatrician was anxious to get the MRI scans looked at by a pediatric neurosurgeon.  Our geneticists were already working on this.

-We heard back from the neurosurgeon today and he did not feel she needed surgery at this time!  We will be following up with a neurologist very soon.

-Just because she does not have to have surgery at this time does not mean she will not have to have surgery in the future.  Especially if it continues to grow.

We are praying and praising God that at three months she doesn’t have to face surgery right now.  The older and bigger she gets the better it will be for her surgery.  So, please pray that she continues to grow strong and healthy and that the plexiform will slow down its growth.

What we don’t know:
-When she will have to have surgery or what will constitute the need.
-What NF holds for Emmie on a day to day basis.
-If her tears are normal baby cries or cries of pain (seriously makes it harder to be mommy when I just can’t tell some times).
-How this will affect her or our family in the immediate and far off future.

We are trusting God and leaning on Him as He holds our hands (and sometimes carries us) through this journey.  He has already blessed us with amazing people in our path, my best friend from high school who just “happens” to be a doctor at the hospital that we are going to and a pediatrician who we consider a friend and who takes lunch breaks and after hours to work on advocating for us and getting answers.  And who we know is praying for Miss Emmie as we walk this road.

A friend recently commented that she didn’t know how we were doing this.  Honestly, some days I just get really angry and others it’s just a normal day.  But on the vulnerable moments I bow my head and pray.  And I know that I couldn’t get through any of this without God’s love wrapping around us.  I’ve said it before and I’ll probably say it again, we are so blessed that God chose us to be Emmie’s parents and to be Zoe, Ace, Liam, Josiah, Ceili Rain, Bryant, and Malachi’s parents too.  What a privilege we have to love them the way Christ has loved us!

And if you are wondering, this is still a blog about our whole family.  I definitely have plans to post more happenings because in the midst of all this uncertainty, we are still living and doing.  Hopefully, I can get more pictures up soon but again, we are living and doing and our life is so full right now.  I wouldn’t have it any other way.

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On Our Toes

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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.

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