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.
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.