3 years old
New York
Warrior #216
Emma was born on July 31, 2021, a summer baby with eyes that pull you in and don’t let go. She lives in New York with her mom and dad, her twin brother Dylan, her big brother Liam, and a home filled with love, noise, music, therapy toys, and more determination than you could ever imagine.
We’ll never forget August 1, 2022, a date that carved itself into our bones.
Emma and Dylan had just turned one the day before. We were in Israel staying with family. I remember getting a call from our neurologist and genetic counselor asking us to talk via Zoom. I knew. I knew the second they asked that it wasn’t good. When we opened the Zoom, the genetic counselor shared her screen with Emma’s report. I saw it immediately- the words SYNGAP1 and Pathogenic flashed in front of me. As a registered nurse, those words were like gunshots. I didn’t need them to explain. Before anyone could say a word, I dropped to the floor, sobbing.
My husband didn’t understand what was happening. My in-laws were sitting right next to us in the living room. Our boys were watching TV nearby, suddenly watching their mom completely fall apart, break into a version of herself they had never seen before. The strong, in-control, happy mom they knew was gone. I couldn’t hear a word the doctor said. I couldn’t breathe. I remember whispering, “I’m sorry, but I can’t do this right now.” And I disconnected the call.
That was the worst day of our lives.
But as parents, we don’t get to stop. We broke…and then we stood back up.
The very next day, we picked up the phone. We searched, we researched, and that’s when something clicked. Little did we know that the infant development program I had been studying via Zoom from New York, based in Israel, grounded in the Feldenkrais method and focused on early movement, sensory processing and motor learning from birth to age two, would become our lifeline. I started that course just before getting pregnant with Emma and Dylan. And now, the very same program, led by its founder and creator, had a special needs intensive.
The universe works in mysterious ways like that.
I called the founder of the program immediately to tell him the news. He didn’t know me personally, but remembered our interview from two years earlier, because I was the only student from NYC in the program. And just like that, the door opened. We decided to move forward with the intensive under his guidance and support.
We extended our stay. We enrolled Emma. Six hours a day. Six days a week. For two months.
It was intense. Hard on her; hard on all of us. She cried through so much of it. The work challenged her on every level: physically, emotionally, and neurologically. It pushed up against all her struggles: motor planning, sensory processing, regulation, attention, engagement. But day-by-day, she showed us what she was made of. The team saw her. They knew her potential.
She didn’t give up, not once. She fought, and something incredible happened. She changed.
She began rolling. Sitting up. Reaching. Looking. She was curious about everything. She started eating actual real food, drinking from a bottle, playing, laughing. She was content. Happy. Engaged and motivated even by a plastic bag. And one week after we came home, she crawled for the first time. Our baby girl, who everyone told us to “just give time,” who everyone said was “lazy” or “chill”…. She wasn’t lazy. She was fighting battles inside her body that no one could see. And she was winning.
That program changed our lives. Not because it made everything better, but because it showed us that this little girl, who cried nonstop as a baby and wouldn’t even reach for a plastic bag, was fighting. It showed us what Emma could do. What she wanted to do. What she was willing to fight through, cry through, and push through. Her strength humbled us and inspired us. And we knew from then on, no matter how hard it got, she was in there, fighting to get out.
Her story didn’t begin at diagnosis. It began as an infant, when the gaps between Emma and her twin brother Dylan became impossible to ignore. She cried constantly. She was uncomfortable in her body. She wasn’t rolling. She wasn’t sitting. She wasn’t reaching. She wasn’t motivated by anything. Everyone told us not to worry. That she was “chill.” That “every baby develops at their own pace.” But my gut knew. I didn’t want to be calmed down. I wanted answers.
At five months, I asked our pediatrician for a PT and OT script. Our pediatrician gave us the referral but said “don’t worry”. We started therapy but the progress was minimal. At seven months, she started having strange eye flutters and involuntary body movements. As a registered nurse, I feared seizures. That’s when we met our neurologist, the Chief of Pediatric Neurology at NY Presbyterian Hospital, the first doctor who truly saw Emma and said, “I hear you. You’re right. Let’s figure this out.” He is still one of our greatest blessings. And somehow, beautifully, he would later pioneer one of the most important SYNGAP1 drug trials – the Ravicti clinical trial. We did video EEGs, MRIs, bloodwork, endless bloodwork, and that led to the diagnosis. To that life-changing call on August 1, 2022. To SYNGAP1-related disorders.
But diagnosis wasn’t the end of the story. It was the beginning of our fight. We found the SynGAP Research Fund and its Facebook community, and immediately felt embraced. We weren’t alone. We were part of something bigger. We had messages, phone calls, support and love from people who just understood. Total strangers reaching out, saying, “We see you. We’re with you.” We had hope.
When we got back home from Israel, Emma started receiving 22 therapy sessions a week through Early Intervention: PT, OT, speech, feeding, special instruction. She thrived. She soared through blood, sweat, and tears. Everyone was amazed. She took her first steps at 21 months and was walking before her second birthday. That was one of the happiest days of our lives. She had worked so hard. She had earned it.
At 23 months, she was diagnosed with epilepsy. Intractable, Refractory, Drug-Resistant Epilepsy. This has been one of our hardest journeys. Countless drop seizures every single day, sometimes over 100 in a single day. They knock her to the ground, literally. They steal progress sometimes. They threaten her safety. They interrupt learning. They are like electrical outages in her brain 100 times a day. They reset her brain and body over and over again. They terrify us. They break our hearts.
But still, she rises. She dances. She smiles. She laughs. She lives. She keeps going. She always keeps going.
Emma is more than her diagnosis. More than her therapies. More than the endless appointments and hospital stays. She is joy. She is assertive. She is smart. She is resilient. She is sass. She is side-eyes and belly laughs and fierce determination. She is the most loving little soul, giving kisses all day long, wrapping her arms around you when you least expect it, and clapping for herself with pride after every small victory.
She amazes everyone. Every therapist. Every doctor. Every person who meets her. Her eyes are mesmerizing. When Emma looks at you, it’s deep. It’s knowing. It’s connection. People are drawn to her, and she’s drawn to them. Her laughter is magic and so contagious. It’s loud, honest, pure. It fills the whole room and your whole heart.
Music is Emma’s sanctuary, it is her passion, her regulation, her therapy, her joy. She dances to everything, gestures to every song, from Itsy Bitsy Spider to The Wheels on the Bus to Open Shut Them. Let It Go from Frozen is her current obsession, and yes, she strokes her hair like Elsa every time it plays. Music is playing in our house all day, every day. It’s her language.
She loves posing in front of mirrors. She lives for the camera. She’s expressive, silly and playful. She just learned how to jump and climb, and now she does it constantly. She spins, twirls, and loves hanging upside down and sensory play. She runs toward wide open grassy areas just to be free. She plays in sand and pours it all over herself with delight. She loves the water and could stay in the bath forever. And dogs? Total obsession. That future dog? It’s coming. She cuddles them, lays on them, kisses them, and lets them lick her face endlessly.
She feeds everyone around her before taking a bite herself. She is social, engaged and wants to be part of the world around her. She claps when she is proud of herself and if we don’t clap, she’ll grab our hands and make us. Her joy is infectious. Her presence is unforgettable.
And she LOVES her brothers. Dylan and Liam are her best friends. She runs to them, hugs them, tries to copy everything they do, from scooting in the park to playing soccer. They are her biggest fans, her protectors, her people. They kiss her, protect her, celebrate her every win, cheer for her. The love between them and their bond is pure, fierce and beautiful. Watching the three of them together is sacred.
Despite being nonverbal, Emma is not silent! She finds a way to tell us exactly what she wants. She gestures, points, reaches, makes sounds, and uses some approximations. And now, her AAC device, is finally giving her a voice in a whole new way. Her receptive language spans English, Spanish, and Hebrew- and we believe in all our hearts that expressive words are coming.
We mourn what SYNGAP1 has taken. We mourn the future we imagined for her, for us, for the version of parenting we dreamed of. We mourn the ease that will likely never come. But Emma gave us new dreams. Braver ones. Wilder ones. She is the dream
SYNGAP1 is lifelong. It’s brutal. It’s uncertain. The seizures are relentless. The worries are heavy. We grieve. We mourn. We ask ourselves constantly, “Are we doing enough? Are we giving her what she needs? Are we giving her siblings enough?” The guilt is always there, but so is the pride. So is the awe. So is the hope. Because being a SYNGAP1 Warrior is just part of her story.
And through it all, we celebrate everything. We celebrate the tiny wins. The big leaps. The firsts. The breakthroughs. The moments when she looks at us and we know she’s saying “I love you,” even without words. Every step. Every clap. Every smile. Every victory.
Emma has endured more in under four years than many do in a lifetime, countless appointments, vEEGs, blood draws, genetic testing, MRI’s, ER visits, hospitalizations, endless medications, therapy marathons, and sleepless nights. She works harder than anyone we know. Every day is a battle, with seizures, motor skills, cognitive challenges, and expressive language barriers. But she meets every challenge with perseverance and grit that humbles us. She is SO smart. Feisty. Stubborn. And so, so determined.
Even when seizures steal her footing, she finds her balance again. Even when the words don’t come, she finds her voice. Even when her body betrays her, she rises.
We believe in her future. And we believe in science. We’re hopeful that with the incredible work of SRF and researchers, gene therapy will come true. A treatment. A breakthrough. A way forward.
We will never stop fighting for her, never stop believing in her, and never stop clapping for her. Because our daughter, Emma, is a warrior. A real one. A radiant, unstoppable, music-dancing, kiss-giving, soul-searching, fiercely-loved warrior.
She is the strongest person we know. She is light. She is love in its purest form. She is electric. She is laughter. She is strength. She is resilience. She is determination. She is fierce.
She is a warrior in every sense of the word.
