Gracie Spence

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Diagnosed:  April 2013 at 1.5 years
Location:  Canada

“The Retts test came back negative so he did a test for CDKL5.”

After 52 hours of labor I finally welcomed my little girl; Gracie Leea. She was a beautiful baby with big red lips and big brown eyes. She and I both had to go on antibiotics due to my fever when I delivered her. Gracie cried a lot as a baby but slept all night as long as she was swaddled. I noticed that when she was 3 weeks old, Gracie did not do things she should have been doing at that age. She didn’t hold up her head, she didn’t latch on and breastfeeding her was so difficult. At 4 months Gracie finally smiled and cooed.  

One day after her 6-month immunizations, I gave her a bath in the evening and she had her first seizure. Every time we gave her a bath a seizure would occur. I videotaped her and took it to her pediatrician. She concluded that it was a Grand Mal seizure. After waiting from December until March, our pediatrician helped us get an appointment with a neurologist. In March we had an EEG. It came back normal. In April Gracie had an MRI. She had to go through numerous blood tests for every infant disease and syndrome. We then met with a geneticist and she said we had to do a Spinal Tap, which came back normal as well. In the mean time, Gracie’s developmental worker mentioned CDKL5 to me. I Googled it and it seemed like the right diagnosis for Gracie. I told my neurologist who thought it might be Retts. The Retts test came back negative so he did a test for CDKL5. On April 24th 2013, the genetics assistant informed us that Gracie had tested positive for CDKL5. I remember her telling me about it but I couldn’t concentrate and blocked her out of my head. When she left the room I remember crying and thinking, why Gracie? Why did this have to happen to her?

It took me many days to stop being so upset, join the CDKL5 Facebook page and fill out the database. 6 months later I have made friends whom I call Gracie’s family. I am Gracie’s advocate and I will not stop looking for information to better her life.

Written by:  Sara Spence (Parent)