Their story isn’t about what they lost at the start; it’s about how they show up daily, follow their gut, and let love carry them forward. In the fall of 2017, Danielle was at school grading art projects when a sharp pelvic pain made her think a cyst had burst again. She called her OB-GYN and rushed in for an ultrasound. Pregnancy wasn’t on her mind; she and her husband were careful, and children had always been a “maybe.” She was 36, he was 42. Sitting in the exam chair, she expected, “There’s the cyst.” Instead, she heard, “Congratulations, you’re about six weeks pregnant. I also see twins. Identical.”
Her mother is an identical twin, but that didn’t quite shock. She drove home wondering how to say, “I’m pregnant, and it’s twins.” When she told him, he hugged her, said they’d figure it out, then blurted the honest fear: one baby felt possible; two sounded impossible. At eight weeks, another scan showed a “disappearing twin.” One embryo was gone. They made a joke later, Rian, their survivor, loved to eat and earned the nickname “fatty mcgoo,” but a quiet “what if” stayed with Danielle. The rest of the pregnancy mainly went smoothly. A white “soft marker” appeared on a scan; they did extra testing, and everything returned normal.
At 36 weeks, the baby flipped breech, then flipped back. On a July night, a slow trickle told her her water had broken. They drove to the hospital (too slowly for her liking). Hours of hard labor followed. Rian wouldn’t budge. The doctor gave two options: vacuum or C-section. Danielle chose surgery. The anesthesia didn’t hold; they had to put her fully under. She missed the birth. No first cry, no first hold, no photos of skin-to-skin, just waking two hours later to her husband helping Rian latch. It wasn’t the story she’d imagined, and it felt like a warning that their path might be more complicated than most.
By October 2018, her mother noticed odd tremors during diaper changes. The pediatrician suggested seeing a neurologist “just to be safe.” In early December, on the way home from visiting Santa, Rian had her first full tonic-clonic seizure. Danielle was in the back seat as Rian’s arms and legs jerked, and her breathing caught.
They sped to the ER and were transferred to a larger hospital. For four days, they watched their four-month-old be poked, stuck, scanned, and put under anesthesia for an MRI. They waited for answers and went home with medication and a genetic panel pending. In late February 2019, the neurologist asked if they’d received the genetic results. Insurance delays dragged things out. In March, they finally sat in a small room and heard words the doctor barely recognized himself: an infrequent disorder tied to CDKL5. Danielle felt like she’d been hit with a sledgehammer.
She and her husband, a Marine who had seen real war, both cried that night and asked the questions all parents ask: What did we do wrong? How is this fair? The neurologist referred them to the CDKL5 Center of Excellence at Boston Children’s, and from April 2019 onward, Boston became a second home. They learned fast that doctors don’t have every answer; they have best guesses. Parents have to be their child’s voice. Early on, Rian reacted badly to an anti-seizure medicine. Danielle kept saying something wasn’t right and pushed for an MRI.
After months of denials and back-and-forth, the scan showed medication toxicity had caused brain lesion damage that would not fully reverse. The guilt was heavy, but it hardened Danielle’s rule: trust your gut and keep asking. Life is full of appointments, long drives, and small wins. Rian’s smile softens strangers, and her laugh fills rooms. She is tough and tender, loved by a family that refuses to be defined only by a diagnosis. There are seizures and side effects and days that hurt, but there is also a child who has already faced more than most and keeps going. Danielle knows now she is Rian’s best advocate. She listens, pushes, learns, and leads with love.
