She Didn’t Change, I Did

October 15, 2007 was a fairly average day. My in-laws were visiting, I was working out the logistics for that week’s therapy appointments for Claire and Jared was at work. I got a call from the children’s hospital that we frequented. Assuming that they were calling to schedule yet another test, I answered even though I didn’t have the energy. Nope. It was somebody calling to casually mention that the test for Rett Syndrome had come back positive.


We had just seen neurology on Friday and they said it was negative. What is Rett Syndrome anyway? I had never taken the time to learn about it since they were doing the test to rule it out and it didn’t fit with Claire’s stellar hand use.

When we met with the genetics team to arrange a massive amount of testing earlier in the year they told Jared to cancel international travel and that when they get the results, we would set up a time to have a pastor or someone at the house when they called with information on a diagnosis. So this off the cuff, hey it’s Rett Syndrome, want to schedule an appointment to talk about it in two weeks, really threw me for a loop.

I remember the day like it was yesterday, what the air felt like, the sushi we had for dinner, the sound of my friends voice when I told her the news. In a sense, everything changed that day, except for Claire. The blood test didn’t change her DNA. The results didn’t crush her spirit. She loved Macaroni and Cheese and Animal on Sesame Street before and none of that changed.

The first thing I felt was relief that the search was over. Finally we knew what we were dealing with. It was a while before the impending doom of what this meant for life hit. Oddly enough, this was very similar to my reaction when we lost her. Relief that she wasn’t in pain before I realized the level of the loss for myself.

It what was perhaps one of the greatest coincidenses ever, I was absolutely shocked as I started to tell people around us about the news. I mentioned to my neighbor how relieved I was to have finally gotten a diagnosis. When I told her it was Rett Syndrome, she told me how there was a story in the paper that day about that very thing. Certainly she was confused. After hearing the same thing from three different people, I eventually got a paper and sure enough, Rett Syndrome was in the headline.

A local family was celebrating their daughter’s birthday with a fundraiser for a Katie’s Clinic, the first multi-disciplinary site that specialized in Rett Syndrome just an hour away from where we lived. It was wild. We instantly had a community who hugged on a level we had never experienced before. Paige held Claire and swooned as Claire pulled at her hair and earrings, a skill she’d soon loose.

It really felt like a tale of two cities, the best of times and the worst of times and that feeling has been pretty consistent for the last 14 years. Maybe it’s just because it’s become familiar, but I’ve come to really enjoy the tension of a life that is stunningly beautiful and brutally painful at the same time. It’s a lot easier now that I have the space to also rest and let my brain process the chaos.

I expected to wake up vomiting from anguish today, like I’ve done in years past as my body remembers the day it all changed. I braced for it, Jared took the day off and I scheduled a yoga class to cry through. Much to my surprise, I woke up filled with gratitude. I can’t imagine life without the people we’ve met in Rettland and the adventures that we shared with Claire because of the presence of Rett Syndrome. So here’s a first, a Diagnosis Day filled with hope. I guess I know now what it possible, so it sorta hurts a little less. Even with Rett Syndrome and a short amount of time, our time with Claire was absolutely incredible.

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