Wednesday, March 28, 2012

A truly life changing day.....

I come to write this post with a very heavy heart today. I have not spoken of this much on here about the possibility of this mainly because I did not want it to be true so badly. But now that we know more, I will share with Chloe's friends what is going on.

Chloe's birthmom L, told me during her pregnancy that she had spots on her skin called cafe au-lait (meaning coffee with milk) spots that are mild skin discolorations but that spread over time. She also said she had some tumors in her back that began to bother her and she did not know what they were. Well after Chloe was born, the neonatologist talked to us before we took her home from the hospital and told us that he believed L had something called Neurofibromatosis. He said because of the cafe au-lait spots as well as tumors on her spine, that she was a textbook case. He then said that there were some VERY small markings on Chloe and that he wanted us to see a pediatrician that had some knowings about Neurofibromatosis (NF-1).

So that is what we have been doing. Her pediatrician is wonderful and has another child in the practice with this disease, but she of course could not elaborate because of HIPAA laws, but she has carefully watched my girl since she was 5 days old. 

Well 2 months ago I found some cafe au-lait spots on Chloe while changing her diaper in Olive Garden one day under their bright lights in their restrooms.  They are on the back of her legs and buttocks.  I wasn't overly alarmed but I did call right away and told the pediatrician what I saw as she had instructed me to.  Well at her 4 month visit last month, Dr. Lexier saw the spots and said I definitely needed to see the pediatric neurologist.  So I made the appointment and we have been waiting for yesterday to arrive when we would have some answers......  I dont' know what I expected, but it certainly was not what happened.

 After Dr. Loma, her neurologist at Children's Hospital examined her she saw the number of spots that has arisen (she has more now on her back and other places that I have never seen) and they measured them and took pictures of all of them to document.  So the number of spots she has as young as she is coupled with a definitive diagnosis in her biological mother of NF-1, lead us to our devastating news yesterday.
Chloe was clinically diagnosed with Neurofibromatosis 1.
My sweet happy beautiful baby is so blissfully unaware and that makes me so happy.  These pictures are of her this morning giving me her characteristic peace sign ......I adore her so much it literally hurts to think of what she may have to endure.  But it's like she is telling me it's all going to be okay Momma.

So the long and short of it, we are doing genetic testing to get a definitive diagnosis and what gene is messed up.  Basically NF-1 is a progressive neurological disease affecting all organ systems.  A tumor suppressor gene is misregulated allowing multiple tumors to grow all over the body.  The most common places are the brain, kidneys, eyes and spine.
 It can range from just having these spots and no other symptoms to very severe where the tumors that form on the ends of the nerves are very debilitating and can lead to worse things like leukemia and the like.  There is no way to know what will happen or how far Chloe's symptoms will progress, so we will just love her and continue to trust in the Great Physician to heal our baby.

Some of my faceb.ook friends already know this news as I posted it last night, and they have been asking what do I have to do now??  Well I have to get her eyes checked every 6 months to rule out optic glioma tumors.  I have to have her blood pressure watched closely, taken every 2 months, to watch for renal artery stenosis, and we will get a baseline MRI of her brain and spine at 1 year old.  And then we LIVE LIFE!!!

As devastated as I am over my baby, I also am going to make every attempt to live life not waiting for the other shoe to drop, and cherish the miracle that she is.  Nothing has changed from yesterday morning, she is still my miracle, still my baby I longed for, still loved so much it hurts.

I will keep you updated, and this blog may turn into a documentation of living with Neurofibromatosis as well, but we are all one doctor's visit away from a life changing day.

In closing this post I ask all my brothers and sisters in Christ, as well as anyone who reads this blog in the blogosphere, to offer up to the Jesus of Nazareth, Our Jehovah Jireh, the great Healer, to HEAL my precious girl, and may she be a testimony of the goodness and mercy of the Lord.  And even if the Lord does not heal her- She will KNOW Him and love Him.  God made us a family- and we will cling to Him!  Thank you all for your prayers!!!!