Important Info to know for tomorrow, Saturday, November 4th!
November 03, 2017
Arielle is a joyful, loving, bright, energetic 3 year old. She had her first seizure cluster days after her first birthday and our lives have changed ever since. She has been through a lot in a short time: weeks in the ICU, EEGs, MRIs, countless blood tests. She is a fighter. Our worry never ends - when and if the next seizure will come, if she will live a life being able to accomplish hopes and dreams, if her behavior will negatively change over time, if she will continue with delayed cognitive ability. And with all that - we have hope. We have hope that Arielle's future will be bright. And hope there will be more treatment options for those suffering from intractable epilepsy. We want to help, not just because of Arielle, but because these families need us. Thankfully Arielle lives most days able to fulfill childhood memories, but others are not so blessed and bound by hospital walls.
PCDH19 is a spectrum seizure disorder. It's most common characteristic are clusters of seizures that are often difficult to control and drug resistant. Autism spectrum disorder or autistic features, behavioral problems, Aggression, ADD, ADHD, anxiety, and obsessions (OCD) are seen in many. In adolescents and adults, depression, bipolar, schizophrenia, psychosis and other mental illness have been reported. It is also estimated that about 70% of PCDH19 patients have intellectual disability of varying degrees, ranging from mild to severe. The list goes on and on.The PCDH19 Alliance focuses on raising and directing funds to scientific research with the goal of finding better, more effective treatments and, ultimately, a cure; providing information and support to affected families; and assisting the efforts of the medical community, so that no family suffers without a diagnosis and the most appropriate medical treatment.