The PCDH19 Alliance is a registered non-profit by the Internal Revenue Service under Section 501 (c)(3). We are 100% volunteer run. All the funds we raise go directly to funding research, supporting families, raising awareness, and finding a cure.

Copyright 2019 PCDH19 Alliance

926 A #212 Diablo Ave, Novato, CA 94947

EIN: 45-4020102

July 15, 2019

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Giorgia

Giorgia was born January 19, 2002, the second daughter after our first son. A beautiful girl I’ve longed for! Giorgia, for the first 6 months was a normal girl, quiet, alert, eating baby food, then at 8 months old she had her first seizure on the high chair while eating. She shouted, her face went blue and she stopped  breathing. She remained in the hospital about 20 days, had 50 seizures per day and tried 5 or 6 medicines but the crisis did not stop. Giorgia had drug-resistant seizures. They gave her all kinds of examinations: Two MRIs, EEGs various metabolic tests, we left the hospital without a diagnosis. Followed about 50 admissions to date, with 3 ICU admissions, now Georgia is 10 1/2 years old. During the first two hospitalizations Georgia also had a right hemiparesis from the many seizures; she could not move the left side of her body.

Luckily the rehabilitation has gone well. The doctors told us that our child had  moderate mental retardation and autistic traits, although Georgia has always been a headstrong girl with a great desire to learn.The worst deficit has turned out to be the behavior: oppositional, hyperactive, aggressive. Today Georgia attendeds the fourth grade in a public school, is excited to go to school has solo teacher support, she is able to read a few words and counting. Of course it is difficult for teachers to engage her all the time in school, and often have to contain her fits of nervousness and aggression. As parents, we are worn out in mind and body by this disease. We finally got a diagnosis of PCDH19 mutation in 2010. Finally we know the name of the disease, it gives me hope that maybe the research will also give us the cure.