It's been only a little less than two months since we found out that Tessie Toodles has Rett Syndrome and to be perfectly honest, I've been good with the diagnosis and I've been struggling with the diagnosis.
I explained why I was good with it in my last blog post and I feel just as strongly today as I did when I wrote about it. Even more so since taking Tess to the Rett Clinic at Boston Children's Hospital and going over her whole life's history yet again, only this time with a Rett Specialist. He had asked a genetic counselor to join us to better explain how and why this had happened to Tess and by the end the only really big question I had, other than double checking that Blake and Ellie were at no higher risk of a baby being born with a birth defect than anyone else as well as making sure this wasn't anything that could have been prevented (they're not and it's not), I came back to the question of HOW WAS THIS MISSED?
You see, in many cases young girls are often diagnosed with Rett Syndrome even with a negative genetic test result because they clinically present has having the symptoms of Rett Syndrome. Tess had nearly every symptom to the point where the geneticists were testing for Rett yet never considered it again once the test came back negative. No neurologists caught it, no geneticists (and mind you, this was at one of the world's best children's hospitals), and no other doctors caught it either. Tess just remained a mystery to us all.
Which brings me back to the HOW WAS THIS MISSED question. Neither the neurologist nor the genetic counselor could answer it and to be honest, were a bit baffled that Tess had gone this long without someone diagnosing her with Rett. So you see, I stand by my last post because by all accounts, Tess should have been diagnosed years ago but I was spared that until I was much better equipped to handle it. And I am forever grateful for the gift of not knowing until now.
Yet I am having my moments where I'm struggling with this diagnosis. The "Why my kid?", moments. Plus I've been doing a lot of reading and learning about Rett Syndrome and it's such a brutal disease. It really brings into sharp focus how much damage Rett has done to Tess's body and how very hard she works just to simply exist. I'm reading things that make me overwhelmingly sad for Tess but at the same time, even more proud of her and her warrior spirit than I already was.
While at the Rett Clinic, the genetic counselor showed us a picture of what Tess's specific mutation looks like. Basically, we saw the exact spot of where it all went wrong. The coding her DNA took out and replaced with other stuff that was wrong. And for some reason, seeing it like that, how close she was to perfectly healthy except for this little blip of broken coding, well, honestly, I just wanted to burst into tears. It all came rushing at me. The years of fear, anxiety, fighting with schools, doctors, insurance companies to make sure she gets what she needs, surgeries, skills not gained, therapies, hospitals. So much damage from such a small error in her coding. And the thing with Rett Syndrome that really broke my heart was reading that the girls KNOW what they want/need to do but their bodies just can't do it and often, the harder they try to get their bodies to do something, the harder it becomes.
As I said, brutal. I mean, think about the last time you had an itch in a hard place to scratch and how bothersome that was. Now imagine that same struggle for every single thing in your life from wanting to scratch an itch to grab a toy to pet your dog to eating to talking. You KNOW what you want to do but your body simply can't. I can't begin to imagine the frustration, anger and even fear that would make anyone feel. You can't slap the mosquito that's biting you but you can feel the bite. You can't scratch but you can feel the itch. You can't stretch but you feel the cramp. You want to play with the toy but can't make your hand grab it. And this doesn't even take into account uncontrolled seizures, pneumonias, scoliosis, etc, etc, etc.
If I think too much like this I end up feeling super sad for Tess and that does no good to anyone, least of all Tessie. She's happy and she's not to be pitied. Tessie loves her life. Is there suffering in it? You better believe it. But this kid just keeps smiling and laughing and facing each day, each moment, with a spirit that is to be envied not felt bad for and she keeps reminding me of that with each sassy little smirk or giggle.
I've also had a tough couple of weeks emotionally because we've had to make the very difficult decision to pull Tess out of school due to some issues we've had there and that has been upsetting. She also has the eighth grade send off tomorrow and I'm kind of dreading it. Tess's school day looks much, much different than the other kids and she really spends very little time in middle school so the "send off" doesn't begin to hold the same meaning for her, but I think it's important for her to participate in this with her classmates and thankfully, Ellie has offered to help Tess so that she can be a part of it. At the same time, it's a visual reminder of just another thing that Rett has robbed from Tess.
But, as the saying goes, there's always good in every day if you take the time to look for it and in today's mail I got a gift from a Travels with Tessie follower. Ellie laughed and jokingly said, "Your first fan mail, mom!" It was a pretty little cuff bracelet with the words, "though she be but little, she is fierce" stamped into it as well as a very kind and encouraging note. It really lifted my spirits just when I needed it, so Gigi, if you happen to read this post, I'm sending you a great big THANK YOU for the super sweet surprise that couldn't have arrived at a better time. And please tell Mr. K "hello" from me and that I said "Federalism" (he'll get the admittedly very old, joke). :)