We took a road trip Monday to UNC to meet with one of our favorite doctors and her team.  We met her about a month after the kids were diagnosed.  She is such a fantastic source of information and advice.  We see her once a year and the time had come for another appointment.  The typical 4 hour drive turned into a horrible 8 hour drive.  There was a car accident that shut down the highway and Waverly kept getting nose bleeds, so we would have to pull over to stop the bleeding.  The next morning we went to the hospital for what is typically a full day of tests and evaluations.  The clinic moved into a new space, so there were a few components of the evaluation that we were unable to have completed.  The kids spent time with a doctor and nurse who specialize in the MPS disorders.  They were also tested by a developmental specialist. 

After a lunch break, we met back up with the team to discuss the results.  This was our third time and we prepared ourselves for the bad news.  We know the kids are going to test anywhere near their age, but it is still helpful to measure changes.  We were pleasantly surprised to hear that while Waverly decreased significantly in her expressive language since our last visit, she has stayed close to where she tested a year ago in other areas.  On average they say she is about at a 12 month old developmental age.  They reiterated the need to keep Waverly up and moving.  She must keep her strength up.  We were saddened to hear that Oliver regressed significantly in many areas.  We have seen him blossom this past year in school, but when we looked at it on paper he really is doing less than what he was a year ago.  We weren't expecting that news.  He may have just had an off day, but it was still sad news.  They were also  concerned with his physical strength.  He is very weak compared to other Sanfilippo kids at his age.  The kids' physical strength is closely related to their overall health - if they are mobile and active, they will live a longer, healthy life.  They were worried that he is weaker than Waverly and she is 3 years further along in the disease. 

There is always a period of sadness following these appointments.  They are incredibly helpful, but they are also stark reminders of just how much has been lost in one year.  It typically takes me a few days to come out of the fog.

To add to my sadness, Waverly's last day of kindergarten is tomorrow.  She has loved school this year and we have been so pleased with her class.  Her teachers are incredible.  The aides in the classroom are so loving and Wavey's 1:1 is wonderful.  Her teacher is transferring to another school next year and I actually started crying as I wrote her "thank you" card tonight.  We are really going to miss her!!  Waverly & Oliver have such a short time on this earth.  We do not take lightly the time they spend away from us and in a teacher's care.  Having teachers that keep our kids happy and safe is essential.  Wavey & Oli have been well loved and well taken care of.


Joanne Huff said…
Hi Shannon,

I'm so glad you were still able to make it down to NC, but am also saddened to read about some of the findings that came from your visit.

I too am hoping that Oliver was simply having an "off" day when he was being observed by the medical team. About a week or so ago you had posted a photo of him reading a book while sitting on the floor. I remember noticing how much he looked like he had progressed since we met him. And it sounds like he's really been blossoming at school as well.

I just wanted to let you know that we're thinking of you a lot here in NH. I know how heavy the post appointment letdown can be. Sending lots of hugs to all four of you! Joanne
Jana said…
I stumbled acrossed your blog searching for Sanfilippo info. My brother has the disease. Your children are beautiful. They remind me so much of my little brother when he was younger. I just wanted to wish you all the best with your journey through this life with your precious angels. I love my brother so much, and I am honored to be his sister. I can tell you treasure your children, and it made me feel so good that these sweet children have a wonderful mother to love them and take care of them.

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