Cora Grace was born in March of 2018 at 7 pounds, 4 ounces. She is the first person in my family to be born with special needs. It took a little longer for us to figure out that something was not right. How could we have known? Looking back, Cora did not meet her milestones as expected. Instead, it took a little longer for her to crawl, walk, and still talk. You know those milestones in an infant’s first year, we all take for granted? Well, being a second time mom, I just thought they would develop sooner or later...
September 2019- Cora was about a 1.5 years old, when I started to notice her eyelids would flicker really fast for about 1-2 seconds, once or twice a day. No big deal. As a mom, I started to think these were tics. Then, it became more frequent; many times a day. I couldn’t even count the times of eye flickering, it happened so often. I decided to make an appointment with her pediatrician a couple months prior to Cora’s second birthday. The pediatrician referred Cora to the regional center for her delay in meeting milestones; audiology to make sure she is hearing and not being a factor in her speech delay; ophthalmology and neurology for her eye flickering. Phew!
February 2020, we met with a pediatric neurologist from CHOC and this doctor was concerned for two reasons-one, her eyelid flickering and two, her delay in meeting milestones. This prompted her to order an EEG and MRI of her head.
It was March 2020, and during her birthday month, we were told our dear Cora has epilepsy. She had an abnormal EEG which was significant for primary and generalized seizures which meant she had EPILEPSY. Cora was put on emergent epileptic medications and we were referred to see an Epileptologist.
Unfortunately, then COVID hit!! Could you imagine, receiving a new diagnosis for your child, then everything shutting down? Yes, good luck to us trying to meet with specialists and therapists. We were so anxious for answers but yet had to quarantine. Scheduling with a specialist would be months out and not only that, we wouldn’t be able to meet in person. I would call daily to try and get lucky- hoping that a cancellation would happen. We finally received an appointment with an Epileptologist in April (and that was her, fitting us in). In the meantime, we were referred do genetic testing and meet with a geneticist to go over the results. When we met with a geneticist, we were told the cause of Cora’s epilepsy: CHD2.
CHD2 has only been identified since 2013. I am a registered nurse and most of the neurologists I work with have not even heard of this disease. It is still developing, studies are still being conducted on the reason why this mutation occurs.
What we knew was, CHD2 epileptic encephalopathy is intractable: meaning it will be life long, and very difficult to control with medications; as well as Cora being high risk for autism. Cora would do this little dance, where she would spin in circles and we all thought it was cute and we called it her “happy dance.” It wasn’t until I had a telehealth appointment with her neurologist in which she noticed Cora in the background spinning in circles. This was the first time I heard the word “stimming.” In November 2020, we finally were able to see a developmental pediatrician at the CHOC Thompson Autism center where Cora was officially diagnosed with autism.
My dear Cora is beautiful. She is loving, affectionate, happy, very social, and very smart. Since her diagnosis, we have met with speech therapists, occupational therapists, a program called infant stimulation from the regional center. She is three now, and is enrolled in the school district and attending pre-school at a local elementary. She is starting to say words, her social skills are flourishing; she is making huge strides in life and I cannot wait to see what the future holds for my beautiful and courageous Cora.
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