My son was born in December 1997. I first noticed he was having problems when he was 7 years of age. We would be in driving in the afternoon and he would say, ” I’m scared. My eyes are spinning. ” That was the beginning of the year 2005.
Finding the right diagnosis
Jaevin was diagnosed at first with autism, when he was 4 years of age and then left temporal lobe epilepsy, when he was 7. The first neurologist diagnosed him with epilepsy during an EEG, while my son was deprived of sleep the day before. The r(20) syndrome wasn’t diagnosed until he was 10 years of age. Jaevin’s paediatrician was looking for Fragile X and said that he didn’t know much about r(20) syndrome. When I showed the r(20) rest results to his neurologist, he said:
The diagnosis isn’t going to change how I treat his epilepsy
We ended up finding a new neurologist at UCLA Hospital Paediatric Neurology, when he was 10 years of age.
When the treatment doesn’t work
Jaevin’s epilepsy has gotten worse over the years. He has been induced in several comas every year since 2015 in the ICU for status epilepticus for several days at a time until the neuro team found a concoction of medication that would calm his seizures down. He is has been on the Keto diet since 2016, but that alone has not controlled his epilepsy. Jaevin continues to take 5 different types of anti-seizure medications daily to help his condition but he has a baseline of non-clinical seizures of about 50 spike wakes throughout a 24 hour period.