Where we are

Feb 22nd

I meant to start blogging regularly once the new year started. Isn’t that always the case? But there were so many things standing in the way of my wanting to write again: a new dog, teaching additional yoga classes, Willow being a three-year-old-going-on-thirty, and so many other things that seemed to take center stage.

Cutting right to the point of why you’re probably reading this: Willow is doing wonderfully. She’s meeting her physical therapy goals. She takes her medicine without fuss–in fact, she insists on holding the syringes in her mouth and dispensing the doses by herself. She also wants to put her braces on by herself, but that’s a battle we’ve yet to overcome since she still doesn’t know her left from her right.

Diagnosis.

We don’t have one.

Willow has a gene mutation that has never been seen in medical literature. She inherited one mutation of the TTN gene from me and two from Jamie. TTN mutations are associated with (as far as we know now) three different disorders. At this point, though, Willow’s geneticist confidently eliminated two disorders and left us pondering two things:

  1. Mitochondrial disorder (still with unknown genetic mutation)
  2. Limb Girdle Muscular Distrophy variant 2J

With both of those options, Willow needs to see a cardiologist yearly. Her most recent visit showed no abnormalities, so YAY!

However, with both possible diagnoses, we have to hurry up and wait.

While we wait, Willow continues to delight us with her smarts, frustrate us with her three-year-old antics, and surprise us with her imagination.

I regret that we cannot give anyone answers when they ask about Willow, but I love being able to tell everyone that she remains spunky, adorable, and hilarious.

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