A Variation of CACNA1C, a Rainbow of Faces, and a Love of Books: Ollie’s Story

Every parent loves to watch their child fly like a butterfly and discover the world. Although five-year-old Ollie’s variation of CACNA1C means he is developmentally one year old, he plays independently, attends half-days at school, and loves books, especially ones that contain faces.  “Ollie loves people, he loves faces,” says Erica, his mother.  This is Ollie’s story summarized, because otherwise it would indeed be a book, one filled with the rainbow of friendly faces who’ve helped him and his parents on this rare disease journey.  When You Can’t Just Take a Look Online for Symptoms  Ollie’s developmental milestones were on track for his first few months, but then he began slipping. For example, he would gag on his food, and he reverted from pronouncing consonants to babbling. The family’s first pediatrician, however, said everything was fine.  Because she was also struggling with postpartum depression and anxiety, Erica was questioning herself, despite ample other resources, such as books and family members, telling her that she and her husband, Brian, were right.  Attending a class on weaning a baby confirmed their suspicions.  “I sat in this class for an hour trying really hard not to cry because my son was almost 11 … Continue reading A Variation of CACNA1C, a Rainbow of Faces, and a Love of Books: Ollie’s Story