My name is Denise Simões and I am the mother of David Henrique Simões dos Santos who is five years old. When David was five and a half months old, he was diagnosed with Cryptogenic West Syndrome (without apparent cause). I never accepted that there was no cause for this diagnosis. I insisted on genetic tests, but was never heard. It left me very frustrated.

Since the West diagnosis, we have been fighting seizures and treating with medications. At one year of age we were able to control spasms, but only with medications. At the age of one and a half, we discovered that David could not see properly. It was reported by the doctor that this was a reaction to the medicine vigabatrina. David had to stop and replace this medicine and today, he takes nitrazepan and depakene. Vision experts said that David had a retinal alteration and only later did we discover that he actually has low vision. David, since the age of ten months, is involved in interventions for his development such as occupational therapies, physiotherapy and speech therapy.

Even with the interventions, his development is very slow. He crawled at one year and ten months, walked at two years and nine months, has always been very hypotonic, does not speak and intellectually, he is very slow. After much insistence from me to the doctor, he agreed to carry out the genetic study of epilepsy, where we were able to discover the change in GRIN1. Even with the GRIN1 diagnosis, our doctor says that he will not change the current form of treatment, which left me frustrated once again because I believe in finding a cure or even a medication that minimizes the symptoms. While I am strong, I want to pursue this dream of seeing my son get better.