It’s now January and we have entered the first year, in the history of the world, where there is no longer NOT a treatment for Rett syndrome. Astonishing. On the heels of Daybue (trofinetide) are other encouraging treatments- Anavex 2-73, NNZ-2951 (a cousin of sorts to trofinetide) and, for those who have been waiting for it, gene therapy trials have begun in Canada, the US, and soon the UK.
These advancements are all possible due to the courage of the Rett community to dare to dream. Dreams never look the same for everyone, so I am glad that there may be options for the different mindsets of people that make up our community and the world. I hope that all these trails and trials are fruitful, but there is definitely something to be said for being first.
Katelin’s journey so far has been a bit of a rough go; however, I am encouraged with the New Year that she will have an easier time. She has begun to “talk” non-stop in the last week or so, so much so that neighbors and bus drivers have commented on it and have understood enough to have small conversations with her. She’s talking SO much that even she made note of it- “I’m talking!” to which I said, “Yes, you are. Can you be quiet!?! You are soooo annoying!” She just laughed.
Her motor function has taken a jump and I am repeating the experiment I did during her original trial of throwing balls into a vortex. I am excited to see in a couple of weeks how she does compared to last weekend. With all the “improvements” that have come along this past couple of weeks, comes the knowledge that she doesn’t want me to talk about it to others in front of her. First, I ask if I may; if she doesn’t respond I’ll say, “well, you let me know when you want me to stop” and she will whine pretty early on in the conversation. She is learning that doctors are different than “people” and allows me to discuss with her doctors what I need to. I find the more she can make her preferences known and the more I listen to them, acknowledge them and do what she wants, Katelin is beginning to truly learn the power of “No”.
So, what do we see here? Holding on to her lunch box, navigating the curb (her baseline is needing to hold on to my hand), walking at a fairly normal speed (baseline is between sloth and snail, lol) puts the lunch box on the top step, alternates feet (baseline is one step both feet, next step both feet etc) and then she walks directly to her seat without assistance.One cute new thing she does is give me a running diary of my motion- mommy leaving? Mommy bathroom? Mommy leaving, then come back? Mommy go bus? (No, mommy is not going on the bus!) Mommy no, no go on bus, stay here?- It’s a challenge to keep up with her questions and to grasp the new phrases that are buried in a bunch of jabbering, but I wholeheartedly accept this challenge for her.
I don’t know where this new year will take us or where we’ll be at the end, but I’m sure liking the beginning of it.
