How We Responded During the Dark Days of Our Daughter’s Diagnosis

I was 31 years old and eight months pregnant when our daughter Cammy, not yet 2, was diagnosed with Rett syndrome. Cammy’s grandparents picked her up for a sleepover, and that night, my husband, Billy, and I lay in bed sobbing until we fell asleep.

We gave ourselves one day to grieve before sharing the news with our immediate family and closest friends. It took me a week to gather the thoughts and theories that had flooded my mind during the full year it took to diagnose Cammy. We were all aware that something was seriously wrong but clung to hope that the medical community was correct in saying she was developmentally delayed.

Thankfully, we followed our intuition and the advice of friends and family we trust to pursue a diagnosis that fit, as devastating as it was to learn the truth.

Suspecting that your child is not developing typically is frightening. Receiving validation of your concerns is devastating. Making it all real by sharing it with the world is both terrifying and liberating. No one should face any of this without support. No one could.

It took a solid week to compose an announcement that would tell the world of our pain, our plight, and our hope for our child’s future. Here is what we said and how it helped us all.

First, we used simple language to explain the disorder. We wanted to bring awareness to a rare disease and introduce our support system to the terms we would now commonly use to discuss Rett syndrome.

Next, we wanted to emphasize that this is a rare phenomenon and that we would always esteem our child as unique and cherished. We also asked permission to mourn during the process — watching children the same age as yours develop typically can catch you off guard. We wanted to prepare our family and friends for the fact that we may not always feel as strong as we appear when Cammy is around.

Finally, we wanted to notify our network that we would count on them in ways we could not yet imagine. In telling them we needed help, we have received over a decade of unimaginable support. Knowing our readers would feel the same grief as us, we shared some encouragement. We told our friends and family that the day we heard the diagnosis was our hardest day.

Going forward, we would not view ourselves as victims. We would channel our heartache into positive energy to address the new challenges in our lives. Cammy was a happy girl. She did not yet realize she was different. We promised Cammy, ourselves, and our community of friends and family that happy would always be the rule of the day no matter what Rett threw our way.

Cammy works hard during physical therapy, just days before her Rett syndrome diagnosis in January 2011. (Courtesy of Jacqueline Babiarz)

Read more about Cammy’s story at our blog, “Cammy Can Reverse Rett.”

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Note: Rett Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Rett Syndrome News, or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Rett syndrome.