Can You Hear Me Now?


Today’s schedule: Neuropsych testing, audiology, and a consult with the main research team. And, of course Bingo back at the Children’s Inn this evening (Amy got Bingo 3 times…I got it once…why were we not in Vegas?).

TitaniumAmy was a bit irked about her ear appointment, because last year she had an audiology test done where she was encouraged to sleep through the exam. So she had carefully noted on our 2017 exam schedule, “take nap” next to the appointment. But this visit…nope…she did not have the napping exam! She still enjoyed the weird tests they do, but strongly feels that naps should be added into clinic days at all possible points. Also, did you know there is a such a thing as a little vacuum cleaner to suck out earwax? We are living in the future, friends.

The upshot of the team meeting was that TitaniumAmy is absolutely the unique superhero we thought she was. Basically, her individual complex is defined as much by what symptoms she DOESN’T have as it is by the ones she does. Most of her body systems are functioning normally! Her most unusual feature is the mind-boggling density of her bones…so unique that even among the most rare patients, her results stand out.

Basically, she has a couple of DNA errors on the gene for XP/TTD. And, all together her symptoms include those of both XP and TTD (hence the “complex” form)…but there was a plot twist. Though she has XP/TTD, she doesn’t fit neatly into either category on its own. I guess similar to most super heroes, she likes to retain an aura of intrigue. It’s a little crazy to be at the most advanced research hospital in the world, and know as much as we know, but still be a bit of a mystery. Then again, that’s pretty much been the story of TitaniumAmy’s life. She makes a habit of defying the odds.

The bottom line is our girl is strong, courageous, and absolutely perfect just as she is…the rest is just details. Can you hear THAT?

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