This morning I took Waverly to Georgetown for her annual cardiology appointment.  I have a special fondness for this doctor.  Oliver was born with some serious heart and lung problems.  In the midst of the chaos in the NICU, a lovely doctor appeared.  She was capable and calming.  I knew the moment I met her that she was going to take very good care of my son.  She still does.  Of my daughter, too.

Everything looked good.  A little thickening of her aorta, but that is expected in children with MPS.  She was going to go over the ECHO again tonight, just to be sure.  I cannot begin to tell you how nice it is to see a doctor who sits down and takes time with her patients.  She is familiar with MPS and has seen children with Sanfilippo.

My sweet Waverly has been having a very difficult few weeks.  There have been so many changes in her behavior.  She is crying and whiney a lot, for no apparent reason.  She has been dropping to her knees more often while walking and her pace has slowed down considerably.  Her muscles are tightening - especially in her hips, legs and shoulders.  Her core is weakening, so she is leaning more to one side or simply tipping over when sitting on the floor.  She has also not been drinking as much as usual.  When I add all of these things together, I have grown very concerned.

Sanfilippo is a progressive disorder, meaning that Waverly & Oliver's symptoms will grow progressively worse.  Every time there is a change in her behavior, we fear that we have entered a new reality.  We worry that a favorite skill is going to disappear, only to be remembered or captured on video.  I hope these changes are a blip - only to have her bounce back to her usual bubbly self.  I fear that this is the disease, rearing its ugly head.  Slowly taking another part of my little girl away.

We have lost 3 beautiful girls in the past week.  Another 12 year old girl has been sent home from the hospital with hospice care.  The weight of this disease has grown so heavy and all too real.


Anonymous said…
Thinking of you as always.
Jen Lowrey

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