Early 2013 Update

It’s been a while since I’ve hit the ol’ blog.  

Making eyes at Tink

First, let me just share that we had a fabulous time at Disney World! Clara loved meeting the characters, going on all the crazy rides, trading pins and seeing the sites.  Connor was a champ.  He got to go on several rides and flirted with all the princesses he met.  One of our favorite moments was when we got to visit Tinkerbell and her sister, Periwinkle.  It was on Clara’s “must do” list and Connor was mesmerized by the fairy sisters.  We all had such a great time and it was wonderful to get away and focus on family and fun for a few days.

Connor’s had a number of appointments at CHOP in the last week.  He had a check up with Neurology in the Neuro-Muscular clinic.   His neurology doctor has been out on maternity leave, so they hadn’t seen him since August.  She, along with the PT and OT of the clinic, were pleased with his progress.  He was quite the charmer for them and even sat unassisted for several seconds when the OT was examining him!  We also met with the geneticist.  She shared the results of Connor’s genetic testing and so far the results have come back negative.  They just started testing nine other genes for Joubert Syndrome though, so now we’ll do that test and see what the results show.

At the seating clinic trying out a new chair

After the neuro appointment we went to the seating clinic to figure out what pieces of equipment Connor needs.  We ended up ordering a stander, a seat and a bath chair.  The process of choosing was a bit overwhelming as there are so many choices and things to consider.  We had to use our “phone a friend” and draw on the expertise of our PT at one point.  I hope we made the right choices.  Unfortunately, the equipment takes three to four months to arrive so it will be a long time before Connor gets to use his new stuff!

A couple of days later, Connor had a check up with the ophthalmologist that did his surgery and has been watching his ptosis.  They redid the vision test Connor didn’t do so well on in December and this time he scored right where he should!  It’s a test that requires him to track side to side and the doctor thinks that because of his nystagmus the tech who did it last time had a hard time deciphering what was tracking and what was unwanted eye movement.  This time they had him track it up and down and he did great!  All that vision therapy is paying off!  The ophthalmologist was pleased with how his eye looks and we don’t have to see him again for a year.  We’ll continue to see the other ophthalmologist who has mainly been looking after his nystagmus and strabismus. 

Next week is a GI appointment and a repeat swallow study, so prayers and good thoughts for both of those are appreciated!