Yesterday we had a fairly routine visit to Katie’s Clinic for Rett Syndrome. We met with multiple specialist who all agreed that we were doing everything correctly that we could control, which was very nice to hear. Claire got special time with Dr. Mary who is like the Lorax of Rett syndrome, she speaks for the girls. It was her guidance when we were first diagnosed that gave us hope that we could learn to live and that Claire could thrive, I love Dr. Mary. As we prepared to leave we got to looking at old photos, because the awesome volunteers there can just pull up cute pictures of Claire over the last 6 years on a moments notice because they are amazing like that. It was a trip to see her when she was so little and vibrant, before Rett had broken her spirit. It took me back to how hard those days were, when I would feel horrible for crying when she was still smiling because she didn’t see the girls behind her twirling in their dresses. We are so much better now. I can look back and see just how far we’ve all come and it’s remarkable.
We gathered ourselves up but before we left, we had the opportunity to meet a family that lived just over an hour from us. I nearly lost my breath at the sheer joy that exploded from this little girl as she and Claire connected through their eyes. I looked to the mom and could see it, the struggle to breath, the overwhelming grief from the recent diagnosis nearly crushing her. We spoke through a translator and she asked a few questions about Claire. As I looked at her precious daughter I saw so much hope my throat nearly closed and I got goosebumps.
The travel to Boston has been wearing on me. We’ve been in the trial so long that I had lost sight of the why and there she was sitting in front of us, tiny and wide eyed. It’s likely that this girl will have the option of IGF-1 (assuming that the data continues to show what it did in phase 1)before she is Claire’s age. That’s why all this crazy makes sense.
It’s a game changer.
With each generation the story is getting better. Before we were diagnosed Katie was and her parents made a clinic so that others didn’t have to go through what they went through. We have the benefit of the clinic so Claire is making her way through the IGF-1 trial. I don’t know what is coming next but I can see the trend and it excites me. Rettland is becoming a better place, still hellish in nature but the reprieve more accessible.