After 64 years of searching for answers, Caren received her SynGAP1 diagnosis in June of 2020 after surviving COVID-19. Caren, our sister and myself participated in a Trio Whole Exome Sequencing test, which uncovered this remarkable discovery. Some of Caren’s diagnoses through her life have included Mental Retardation, Epilepsy, Autism Spectrum Disorder, hypotonia, congenital foot deformity, ataxia, sleeping irregularities, chronic constipation, Schizophrenia and Explosive Disorder.
Despite her struggles with various conditions, I would describe Caren as an affectionate, humorous and happy person. She loves to color, write letters, dress up, sing and dance. Above all, she is quite a foodie! Caren is the first born of four children and loves her family. She misses her late parents, and I believe they would have loved to learn that she is a SynGAPian.
Caren was first described as a fussy baby who would not breast feed. After only being ten days old, doctors recommended my mother to start using formula. According to Caren’s baby book, she would rebel during the introduction of solid foods and frequently gagged. At seven months old, Caren experienced her first seizure episode, and would continue to experience grand mal, petite mal, absence and generalized seizures throughout her life. More recently, Caren has been observed to have focal seizures.
In addition to trouble feeding and seizures, her developmental milestones were delayed. Caren first walked at fourteen months, and she only began to talk after three and a half years of age. Through childhood, Caren’s disabilities and behaviors were managed in various residential institutions. From the ages of eight to eleven Caren lived at home in an effort to try different learning approaches. After this time, she moved back into another residential home where she participated in the Special Olympics, community outings, dances, and vacations. She was even featured in several local new articles.
In 2013, our family moved Caren to a group home that was located closer to us. Her current group home and rehabilitation day program provides various necessary services such as occupational, physical and speech therapy, and 24-hour nursing supervision. Before the pandemic, Caren also participated in community experiences.
Currently, Caren speaks in short sentences and has learned to read and write phonetically at a basic level. Although Caren’s motor skills are not what they used to be, she is happy to just hold a crayon. She is very strong willed. Overall, Caren is loved by almost everyone who meets her!
My hope for the future is that Caren will continue to have the best quality of life and care, be happy, comfortable, and to be an inspiration for others. As the oldest known SynGAPian at this time, I believe Caren’s story can provide insight for upcoming research and therapies.
I feel blessed to have the support of SRF and this caring community. Once I found SRF, I realized I was no longer alone. I am now part of a larger family that understands and has amazing resources. I know that SRF is moving mountains for our SynGAPians! My advice to newly diagnosed families is to surround yourself with support, lean on each other, embrace this community in a way that you are comfortable with and make sure to take time to care for you! Our SynGAPians are truly happy, curious and amazing people!
Special thanks to Mike Graglia and the amazing SRF, the SRF directors, Daniel DeFabio and Illumina for sponsoring and supporting #CelebratingCaren! Please join us for the watch party by registering!
-Nancy, Caren's sister