Today was a day we have been waiting and hoping for since TitaniumAmy received her diagnosis in December 2016 ~ we got to see the NIH eye doctor! And, overall we are very encouraged by what we learned. For the doctors at home, the issues in Amy’s eyes seem exotic and strange ~ even alarming. At the NIH, the doctors’ interpretation is moderated by having seen several other people with nucleotide excision repair (NER) diseases. The message so far is that our girl seems to be doing quite well for someone of her age with XP/TTD Complex.
TitaniumAmy had to prove her super hero status by going through several really weird tests. I actually lost track of how many hours it was – something like 4 1/2 (and that was after a half hour in radiology). She even ate lunch in the waiting room between appointments! But, she weathered it all with good humor. She did crash right out after the appointments were done, though.
Amy will have one more eye test done on Thursday and we will have a solid baseline for her eye health. An added benefit is that our doctors will have a new contact at the NIH for helping them understand what needs to be monitored. We are very, very grateful to have had this opportunity to peep at Amy’s peepers!
It’s not just doctors all the time around here. Our amazing clinic nurse scheduled the appointments today so Amy could be done in time to attend the Nationals baseball game with the Children’s Inn. She had a blast – and even met a few famous people, as you can see below! She’s such a celebrity even the most powerful men in history wanted their photo take with her. And of course, with TitaniumAmy bringing the mojo, the Nats beat the Braves by 5 runs!