CDKL5 Deficiency Disorder
“Mimi began having seizures at 25 days old and was referred to our state’s early intervention program before she was even 3 months old. She began therapies at 4 months old. Since then, Mimi’s received physical therapy, aquatic physical therapy, occupational therapy, speech therapy, vision therapy, Anat Baniel Method Movement Lessons, and has just started therapeutic horseback riding.
Therapy has definitely been a process of trial and error in terms of finding therapists that Mimi gels with, but finding those good therapists has been transformational. Mimi’s OT is like our CDKL5 sensai – she just really gets what motivates Mimi and is always coming up with creative, novel ways to get Mimi doing new things. I have this master on my speed dial and consult with her outside of therapy hours on everything. Losing her at the end of early intervention is going to be so hard! Anat Baniel Method was a therapy we started Mimi in around 6 months old. At that time, it was her best therapy. I found traditional PT to be too forceful for such a young baby with so little body awareness, and felt it didn’t help her forge the permanent connections needed for movement at that time. But Anat Baniel Method is so gentle and subtle; I really credit it with helping awaken and orient Mimi to her body. Aquatic physical therapy has also been an amazing therapy for Mimi. She has so much more power in the water, and is able to try out so many different movements she’d never be able to complete on land. I really credit aquatic physical therapy with getting Mimi to walk. Because she’s been in the water weekly for almost two years, Mimi is today a little fish and has actually “graduated” from formal therapy with a physical therapist to adaptive swim lessons. She can swim short distances on her own just using floaties!
The day we got Mimi’s diagnosis is such a dark one in my mind. It was winter, and our appointment was at the end of the day, and it was already dark outside. A doctor handed us a copy of Mimi’s genetic testing results with the words “CDKL5 – Rett-like” scrawled on it, and we had to google what that meant when we got back out to the car. At a follow-up with her neurologist at the time, we were told that the outlook was not good. But Mimi keeps smashing through expectations and showing us that she is a serious force with which to be reckoned. One of the things I love about Mimi is how much she writes her own story. We’ll set therapy goals for her that she clearly isn’t interested in, and work on them for months with little improvement in xyz skill – but then, out of the blue, she develops a new skill all on her own that wasn’t on our radar bc that’s what *SHE’S* interested in. This happened with crawling, with squeezing squeaky toys, with climbing stairs independently, and most recently with becoming obsessed with toy cars. I cannot even tell you how much joy it brings me that my feisty little girl’s first toy obsession is the complete opposite of anything “princess”.
My perspective on Mimi’s diagnosis is something I work on daily. It can be hard reading the reports from therapists and physicians that describe Mimi’s delays as “severe” because I don’t think of her that way. She is just my Mimi, and the way she is is the way I love her. Of course there are moments where her differences come sharply into focus, and the truth is that tears are always coursing nearer the surface than I’d like. I do wish her life – and, selfishly, our life – could be easier. She struggles so much with emotional regulation and sleeplessness. And I have no idea what her future holds, so I just try not to think about that too much. I just focus on what Mimi needs TODAY and then the next bend in the road. But you get a diagnosis like CDKL5, there is a seismic shift in your life, and then you find that the sun still comes up every day and life goes on. And you as a parent have to get on with the activity of raising of your child and helping them live their best life, just like you would without CDKL5.
We recently bought our first home, and had the opportunity to choose and adapt a living space just for Mimi. As much as possible, we chose design elements that allow her to be independent, explore, and have fun. We bought a one-story house with minimal front and back stairs to get in and out of the house and a giant, flat backyard she can roam around and in which she’ll hopefully one day learn to run. We built her a full-size crib with a mattress on the floor and a gate so she can get in and out of bed safely by herself when the gate is open, or be secure when she sleeps. Her bedroom is designed to be CVI and sensory friendly, so that her room is a place where she can always get a break. We used to push a yoga pillow up next to the couch while she was learning to climb up onto it. Her toy bins are placed on the floor so they are always accessible. We’ve removed as many hazards (cords, obstacles to her walking, plants) so there aren’t things lying around which she shouldn’t play with. We try not to rearrange things because Mimi relies heavily on motor planning and spatial memory to get around, rather than direct visual input. We try to give Mimi agency in everything, to help her claim home as her castle, and to make this a place she can truly relax.”