It just didn’t make sense, the constant tiredness, being lost in school, the pauses when she talked. I had never seen anything like that. But, my mom-gut was telling me that something wasn’t as it should be for my 11½ year old daughter. Diana had always been an easy-going, well-adjusted child who loved people and followed me everywhere. She and I had a special bond. Over the years, she had come to rely on me, I thought as every child does on their mother, but I was about to learn that this was not a typical situation.
The first time I realised Diana had a seizure was during her first EEG when the tech said he would have a neurologist read it that day. That EEG was ordered because I read the definition of an absence seizure and was convinced that was what was causing her pauses and confusion. Sure enough, her EEG was a mess, lots of background activity as well as sub-clinical seizures. Diana’s laundry list of failed meds began shortly before her 12th birthday. After a few months, the clinical seizures started and so did the 15 months of uncontrolled seizures, numerous test, failed meds and isolation. Diana experienced seizures that were not typical – they started like a simple partial then morphed into a tonic-clonic without complete loss of consciousness. Rescue medication didn’t work, so we were left to live in a constant state of emergency. Many nights I wondered if she would make it through that night alive.
The days and nights blurred together and we functioned simply to survive the next hour or day. 15 months passed and the seizure count quickly grew from a few a day, to hundreds. I counted over 7,000 events in a year and there were days that I couldn’t bear to track them. Despite all of the tests we still had no idea why. One summer night, I walked my 13 year old daughter into the ER at a large children’s hospital because we had no other choice. Within 48 hours she was placed in a medically induced coma to stop the relentless seizures since no medications ever did their job. We talked to endless doctors and specialists and Diana endured many tests. Finally, we received an answer – Diana had Ring Chromosome 20 Syndrome. While in the coma, she was placed on the ketogenic diet through a feeding tube as well as a new medication regime. Diana came out of that coma, immensely regressed. The coma was like a reset – we started all over. She had to relearn how to walk, talk, eat, go to school, and even how the world works. She was still having seizures, but they were much improved over the non-convulsive status epileptics she has previously existed in.
That summer we spent 63 days in the hospital and rehab. Diana made it through the coma, barely, but she has been forever changed. We took her home in a wheelchair and with a feeding tube. Endless therapy and recovery took the place of the seizures and we were induced into this unique, special family – the Ring Chromosome 20 Syndrome family. Diana has been on the ketogenic diet for 2½ years. It has dramatically improved her quality of life and and controlled her clinical seizures far beyond any pharmaceutical medication.