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.