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.
