Appointment Recap

Waverly and I spent 8 hours at NIH today.  We were supposed to begin the morning with the PMR doctor to get casts made for new orthotics.  However, the scheduler made a mistake and didn't book the orthotist.  We will be making another trip back for that within the next few weeks.  

We then met with ophthalmology.  It was a very long appointment, but everything looked good.  She is unable to tolerate glasses anymore, but we need annual checks to confirm eye health.  Waverly did not enjoy the eye drops.  I have never seen her react so strongly to a procedure before.

Next we met with rheumatology.  Waverly has had a lot of swelling in her lower extremity joints.  Her ankles and knees are getting red and warm.  Her knees are especially swollen.  They ordered x-rays - no structural issues with the joints.  The question seems to be what is causing the mobility issues.  It is her hips, which is putting extra stress on her knees?  Does she have an inflammatory disease that is causing pain, thus slowing her down?  All of the specialist realize there is a problem, but I am having a difficult time getting people to fully investigate.  The doctors are blaming Sanfilippo.  I need a better answer than that.  It is my goal to keep her as mobile as possible for as long as possible.  I wrote our geneticist tonight, expressing my concern.  As for now, we have her on a high dose of Ibuprofen to help the inflammation.

Thankfully, she hardly cried at all tonight.


Joanne Huff said…
Oh Shannon, this is so hard, what you're writing of. It seems we've been there time and time again, pre-diagnosis anyway, trying to get a real investigation started to get the bottom of a problem and then, nothing. Like pulling teeth. I know it's general, but I remember the MPS Society brochure mentioning hip issues with Sanfilippo. I had emailed Laurie Turner about something one time a while back and mentioned Sasha acting the way you're describig Waverly to be, and she said not to underestimate the possibility of hip pain or dental pain. She was saying both of those are fairly commom causes for mystery pain and crying with our kids. She didn't elaborate on what the hip pain could be, although I think dislocation is what she was referring to. Still, it sounds like your hunch is correct. I wish I had more of a tip then something that general. Thinking of you guys a lot as you try to sort this all out. Lots of hugs to Waverly, Joanne

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