Global Ambassadors
Global Ambassadors are CACNA1A parents and caregivers who have volunteered to help support the CACNA1A community in their geographical regions. Our Ambassadors support CACNA1A patients/parents/caregivers by helping to connect them with other local families and resources and informing them of ways to engage with the Foundation's programs and research opportunities. In addition, they promote awareness and advocacy of CACNA1A and interact with local researchers and medical professionals on behalf of the Foundation.
Email us if you are interested in becoming a CACNA1A Ambassador in your corner of the world
Christina Tee and Chris Senaratne
Christina Tee and Chris Senaratne live in Melbourne, Australia, with their daughter Elise (4). Elise was diagnosed with a CACNA1A variant in March 2022 after they searched for a diagnosis for about two years. Elise was the most beautiful baby and Christina and Chris’ whole world shattered when Elise's paediatrician told them that she had global developmental delays at 13 months old, as she was not meeting her gross motor, fine motor and language milestones. Christina and Chris lived in a back-and-forth state of grief and denial that their baby may not eventually catch up with her peers until they received Elise's diagnosis and found the CACNA1A Foundation on Google in 2022. Having a diagnosis and the CACNA1A family as a support has helped them not only accept Elise's differences but also to embrace and celebrate all of her abilities and accomplishments. As Parent Ambassadors in Australia, Christina and Chris hope to increase awareness of CACNA1A in their community and support other CACNA1A families in any way they can.
Valentina Bolletta, Cristina Labarile, and Luciana Cuccuru
Valentina, Cristina e Luciana hanno età e background diversi, ma ciò che le accomuna è la diagnosi delle figlie, portatrici della mutazione del gene CACNA1A.Giulia, la maggiore, ha 28 anni. La sua mutazione è stata scoperta solo pochi anni fa, dopo aver passato gli anni dell'infanzia e dell'adolescenza a cercare una spiegazione alla sua atassia, alle sue crisi epilettiche, poco frequenti ma spesso gravi, alla sua i problemi. Virginia ha 8 anni, anche lei ha avuto a che fare con crisi epilettiche importanti e con disfunzioni motorie. È una bambina tenace, sensibile e molto affettuosa. Camilla è la più piccola, 4 anni, vivace e determinata, a cui è stata diagnosticata la mutazione CACNA1A a seguito di un ritardo delle sue funzioni motorie, ma ad oggi i suoi sintomi rimangono meno accentuati. Recentemente, le è stata data una seconda diagnosi, una malattia genetica da accumulo lisosomiale. Nonostante le rispettive famiglie affrontino sfide diverse tra loro, Cristina, Valentina e Luciana trovano conforto e incoraggiamento nel condividere la loro esperienza, i momenti difficili ma anche le piccole grandi conquiste della vita quotidiana. Sono in contatto con un gruppo di famiglie colpite dalla stessa mutazione, ma il loro obiettivo è quello di coinvolgere quante più persone possibile, sensibilizzando nell'ambito della medicina, delle organizzazioni e del volontariato, per costruire in Italia una rete forte che possa affiancare la Fondazione statunitense CACNA1A. Credevano fermamente che unire le forze fosse l'unico modo per influenzare la ricerca per promuovere studi genetici e clinici che un giorno potrebbero informare il trattamento e i modi per gestire la vita delle persone portatrici della mutazione CACNA1A.
Valentina, Cristina, and Luciana have children of varied ages and backgrounds, but what brings them together is their daughters' diagnoses of a CACNA1A gene mutation. Luciana's daughter, Giulia, is the eldest, at 28. Her mutation was only discovered a few years ago, after having spent her childhood and adolescence looking for an explanation for her ataxia, her not very frequent but severe epileptic seizures, and her cognitive issues. Cristina's daughter, Virginia, a tenacious, sensitive, and very affectionate child, is eight years old and struggles with significant epileptic seizures and motor dysfunction. Valentina's daughter, Camilla, the youngest at four years old, is lively and determined. She was diagnosed with a CACNA1A mutation following a delay in her motor functions and, recently, has been given a second diagnosis of a genetic lysosomal storage disease. Although their respective families face challenges that differ from each other, Valentina, Cristina and Luciana find comfort and encouragement in sharing their experiences, the difficult moments, and the often small but monumental achievements of everyday life. Their goal is to find and involve the patients and families in Italy and raise awareness about the disease to build a strong network that will work alongside the US-based CACNA1A Foundation. They firmly believe that joining forces is the only way to influence research to promote genetic and clinical studies that may someday inform treatment and ways to manage the lives of individuals with CACNA1A variants.