How did we get here? I ask myself that question every few months. It's been a long road, but perhaps we should call it the road less traveled. It has certainly made all the difference.
On July 11, 2007, my beautiful 27 month old daughter Allison was diagnosed with Rett Syndrome. This day was probably the worst day of my life. It was definitely a day that I will remember as being the day that everything changed.
That day, Allison had a seemingly benign appointment scheduled with her pediatric neurologist for what I thought was a medication check. 5 weeks before, Allison had a battery of tests done to help us understand her speech delay and some of her quirky behaviors. There was an MRI and lots of blood work, including a test for Rett Syndrome (which the neurologist has brushed off as being only remotely possible to my relief). Every few days we got more results back- MRI normal, karotype normal, metabolic panel normal...
On the morning of July 11 we thought we were on the road to recovery and improvement. Allison's seizure medicines (given after an abnormal EEG) had seemed to cause in increase in her vocalizations. The neurologist was pleased and felt that her seizure activity might be normalizing and her diagnosis of epileptic aphasia could be treated. We were full of hope that we were on the right path to helping Allison "recover" from this little bump in the road of her development.
I should have known something was wrong when we were called back into the exam room. The neurologist herself came to get us from the waiting room. There was no usual weight or blood pressure check. She started off asking us how we were doing and then made some comment about wishing I had brought my husband with me. I was confused and then she said that she had gotten back some of the genetic blood work for Allison and that it showed a mutation. I immediately felt a knot in my chest because we had only had two genetic tests done- Fragile X and Rett Syndrome (which I had myself requested after finding the disorder through googling speech delays). I was terrified of Rett Syndrome. To me it honestly seemed like the worst case scenario.
After a moment of silence, I asked her "which one is it?" as she seemed to have forgotten that she hadn't told me which disorder Allison had. Time stood still as she said to me "It's the Rett."
With those words it was like the floor opened up. I felt like I was falling. I stumbled and stammered and asked questions about what Allison would be able to do and the doctor, I clearly remember, lied. She told me Allison could still go to school and would learn to talk. She told me that Allison was doing so well that her regression had clearly passed and that she was surely "a shade of grey". (Unknowing to her, I clung to that phrase for weeks in the hopes that it meant that she didn't really have Rett like other girls with Rett.) The rest of the visit is a blur. I know that she referred me to a genetics specialist, which I thought was in case J and I wanted to have more children. It was several weeks before I realized I should make an appointment for Allison.
I drove home from the doctor's office that day in shocked silence. At one point I caught a glimpse of Allison in the rear view mirror sitting in her carseat smiling and looking out the window. She was totally the same, but I was wrecked. The tears finally came and I was sitting on the interstate hysterical wondering how her life would be, if she would hurt because of RS, and how on earth I was going to tell my mother.
The first few weeks were deep and dark. I started researching and reading more and more about Rett. Within two days of the diagnosis, I had a parent support person from IRSF call to speak to me and she was an amazing lifeline. A few days after I heard from yet another parent of a girl with Rett who lived in Florida. Soon, I had emails from other local families some of whom were only a few months further into their diagnosis than we were.
It took time but I soon realized that our daughter is not a diagnosis. She is not a syndrome. She is her own unique and perfect self. I learned to stop comparing her to other typical children and even to other girls with Rett. I have learned to accept her as who she is because she is truly unique.
This blog is going to be about our life and how we have learned and grown from this diagnosis. It's also going to be about some of the daily struggles we experience. Some days are easy and some are unbearably hard. What keeps us going from day to day though is Allison- her smiles and her love. On this road less traveled, she has certainly made all of the difference.