Starting Out

One year and six weeks ago Brent and I got the surprise of our lives.  I had been sick for three weeks.  Jokingly, several people had asked if I was pregnant.  I laughed this off because it was not possible.  Not physically possible for me to get pregnant naturally.  But that question wouldn't get out of my head, so we swung by CVS and bought a pregnancy test.  While Brent was giving Clara her shower, I took the test.  To my amazement, there were the two blue lines.  Clear as day.  I screamed.  Brent came running.  I showed him the stick and we were both speechless.  Impossible.  Unbelievable.  Miracle.

Fast forward to October 26, 2011.  Our little man comes into the world.  I was recovering from the C-Section and didn't even know our baby had been rushed to the NICU with a pneumothorax (hole in the lung).  And so the medical carnival had begun.

At 8 days old, Connor came home.  In the hospital we noticed he had rapid eye movements and a droopy eyelid, and so we set up an appointment with a CHOP (Children's Hospital of Philadelphia) pediatric ophthalmologist. He said Connor had nystagmus (eye movements) and ptosis (eyelid droop).  There wasn't anything we could do for the eye movements, but the ptosis would require surgery sooner than later.  At seven weeks, Connor got an eye lid "tuck" so his eye would be open and his visual development would not be affected.  The surgery was a success (not perfect, but functional).  Additional doctor visits and tests could continue for his eye issues.

In the last two months we (and the doctors) have noticed developmental delays in Connor.  He didn’t roll over until he was five months old, he cannot sit up, he doesn’t reach for things or grasp toys well. The muscles in his shoulders and neck were very tight - torticollis.  We decided to enroll in our county’s early intervention program and Connor qualified for physical and visual therapy.  At about the same time, our pediatric ophthalmologist suggested that Connor’s nystagmus (his shaking eye movements) are the result  of something more and not a standalone issue as we have been thinking.  He recommended that we see a neurologist and get a brain MRI done.  We saw a pediatric neurologist at the Children’s Hospital of Philadelphia (CHOP) and Connor had the MRI on April 10.  The test showed abnormalities in the brain.  

Connor has been diagnosed with Joubert Syndrome http://jsrdf.org/ It is a rare genetic disorder in which the part of the brain called the cerebellar vermis (think cerebellum) is underdeveloped or missing completely.  In Connor’s case, his is smaller than usual.  A long and varied list of symptoms come with Joubert Syndrome and the severity ranges greatly (much like there is a spectrum that children with autism fall on).We don’t know where Connor will fall on the spectrum of JS.  There is more testing in the near future to learn as much as we can about his situation, but in reality a lot of it is wait and see.  We are confident in the care we are receiving through CHOP and are so grateful that such a fabulous facility is less than an hour from our home.

As you can imagine, this is quite a lot to digest as parents.  We are doing ok.  Some moments are better than others.  The unknown is hard.  We find comfort and strength in family, friends, your prayers and love.  Connor is a beautiful, happy baby and we remain hopeful that he will grow into a strong, healthy boy and man.  But we are realistic that that process for him will be more difficult and limited than for other children.  We thank God for his life and presence in our family. 

And so, I'm blogging.  I'm blogging because we want and need to keep our friends and family updated and we don't have the physical or emotional capacity to do it individually.  I'm blogging because writing is therapeutic.  I'm blogging because I'm terrified and overwhelmed in my role as a mother.  I'm blogging because we have a miracle on our hands and I want to share him with the world.  I'm blogging because I hope it helps us on this journey and just maybe will help someone else on theirs.

So that's where we're at.  I'm not committing to writing daily or weekly or monthly.  Just when I want to. :)  Thank you for praying, laughing, crying and journeying with us.