Emma’s Story 

History

Emma is 19 months old and lives in Russia. Right after Emma’s birth, we noticed that her vision and behavior were very unusual and that her movements were delayed, like she was moving in slow motion. We understood that something was not normal. When Emma was one-month-old, during her first check-up, a pediatric neurologist said, “I don’t know exactly what, but something is wrong!” Right from her office we headed to the hospital where doctors told us that Emma’s strange condition was, for sure, epilepsy. Unfortunately, the drug they suggested only made her condition much worse - she was limp, sleepy and she lost her sucking reflex. Following this, she suffered a cluster of tonic seizures, which could not be controlled for days. At last, on her third day in the ICU, they found a solution with Keppra. She was released from the hospital after another week and we went home with no diagnosis and a poor prognosis. A few months later, genetic testing revealed that her epilepsy is related to a de novo CACNA1A variant. 

There are plenty of dysfunctions and disabilities that Emma struggles with every day. Emma is diagnosed with global developmental delays, sometimes experiences symptoms related to nystagmus and Paroxysmal Tonic Upgaze (PTU) and, for now, cannot sit unassisted, stand or walk and is non-verbal.  One of the biggest issues for Emma is Cortical Visual Impairment (CVI) -   it feels like you take one step forward and two steps back right away. But as it was once well said - “It’s not our disabilities, it’s our abilities that count.”

Diagnoses

Global Development Delay
Epilepsy
Nystagmus
Paroxysmal Tonic Upgaze
Dystonia symptoms

Education

Emma attends all kinds of physiotherapy which includes exercises, massage, water therapy, speech therapy and Anat Baniel Method/Feldenkrais sessions. Unfortunately, Russia does not have specialists or teachers for children with CVI, so I decided to become a Teacher of the Visually Impaired (TVI) and am taking e-learning courses to engage Emma. She also has a speech therapist.

For Those Newly Diagnosed 

Remember that a diagnosis is just a diagnosis. It is just a number of letters and words. A diagnosis does not determine the beauty of your baby’s smile and all the happiness rising inside when he or she sees you and feels you. You are on a very uneasy road, but you will learn all the dangerous spots and places. You will learn because you are not alone.