Sergio began to have seizures with just two months, they were very subtle seizures that we were unnoticed. But when he was almost four months old he had his first seizure. One of the many he had. The period we live in from these seizures started until we had a diagnosis of Dravet’s syndrome, it was the worst of our lives. By giving him an incorrect medication, Sergio had so many seizures a day that we stopped counting them. There were days he could have dozens.
The objective of the diagnosis has revolved in these nine years in our lives. First with the genetic test for Dravet syndrome we started with the hospital La Paz. Then with the implantation of the bioinformatics unit and very recently with the emergence of new technology as the artificial intelligence that will change everything.
From Foundation 29 we started this initiative with the hope of generating patient-centric technology that would shorten this time. We will generate a tool that allows to make phenotyping (symptom extraction) and Genotyping (full genomic analysis) with precision and depth.
Our goal to contribute to that time to have a diagnosis if you have a rare disease will shorten as much as possible and that will only be possible if patients, doctors, researchers and engineers work together. Will you join us?