My first glimpse of Rett Syndrome

A year ago today, I saw my first real glimpse of Rett Syndrome. Caroline and I were playing on the floor when I noticed something that made my heart sink. She "clapped" her hands once and then stared at them as if she was discovering them for the first time. What I saw very subtle and quick, but in that moment, I knew that something had permanently changed.

I spent that entire weekend obsessively monitoring Caroline's hands. In just two days, that first "clap" had turned into frequent clasping and clapping. I didn’t know what I was seeing, but I had an awful gut feeling that it was serious. I took the video below to show her pediatrician.

Two days after her hand movements began, we got to see Caroline's pediatrician. Dr. H spent a long time evaluating her and asking questions about the functional use of her hands. At that point, Caroline was still able to play with her toys and self-feed. There are moments about that visit that stand out in my mind. I remember Dr. H removing her necklace and handing it to Caroline. I remember my stomach turning in knots as Caroline struggled to manipulate and hold the necklace in her hands. It suddenly dawned on me that she had indeed started dropping smaller toys recently. I remember Dr. H measuring her head circumference and noticing a decrease in growth rate. I also remember her asking about the frequency of her teeth grinding, which we had always attributed to teething. A few months earlier, she had encouraged us to seek Early Intervention services when she noticed Caroline was beginning to fall behind on the development of her gross motor skills. As it turned out, all these symptoms were related. And together, they were pointing to Rett Syndrome.

Dr. H expressed concern about the possibility of the disorder and referred us to see a neurologist immediately. She didn’t want to alarm us so she limited what she said about Rett, explaining that the severity varied from girl to girl. When I asked more questions, she suggested we not worry or focus too much on it yet. She also advised us against looking it up on the internet. But as soon as I got in the car, I did exactly just that. I googled “Rett Syndrome” on my phone. I started reading the symptoms and progression out loud so that Mike could also hear. We were in disbelief. We kept going over the symptoms, shaking out heads, and repeating “there’s no way she has this."

That visit marked the beginning of a number of consultations with various specialists. Our hope was to "rule out" Rett Syndrome. Unfortunately, the evidence was quickly mounting. By the end of the May, Caroline had lost most functional use of her hands. The “clapping” and mouthing had become constant. The teeth grinding was also constant. She stopped saying words. She also began struggling with chewing and swallowing. In June, Caroline's geneticist confirmed what we already knew when he gave Caroline the clinical diagnosis for Rett Syndrome. In July, the blood test results revealed the molecular explanation: a large deletion in the MECP2 gene located on the X chromosome.

It's hard to believe it’s been a year since we first stepped foot in “Rettland.” In some ways, I can't really remember what things were like before we knew Caroline had special needs. We are now part of a world we knew nothing about a year ago. This world has its own language and way of life. This world forces you take a closer look at your priorities. It gives you no choice but to live one day at a time. It connects and bonds you to people (other Rett families, caretakers, therapists, teachers, etc.) in ways you never thought possible. I've often heard the expression "joining the Club" to describe becoming a parent of a child with special needs. I'm proud to be a member of that club.