3 years old
Whispering Pines, North Carolina
Warrior #215
Our warrior, Harper, was born in September 2021. From the moment she arrived, Harper’s radiant joy shone through. We nicknamed her “Happy Harper” for her infectious spirit and warmth, not yet knowing how fiercely she would embody that name in the journey ahead.
Harper’s path was unique from the start. She faced challenges early on, missing milestones that prompted concern. While others might have seen delays, we saw her determination. In November 2021, just two months old, Harper was hospitalized in the NICU for RSV—a terrifying ordeal where we nearly lost her. Her strength pulled her through, a testament to her warrior spirit. By age two, she was diagnosed with hypotonia (low muscle tone) and gross motor delays, and she began receiving occupational, speech, and physical therapy to support her growth. Each session was a testament to her grit, but progress was hard-won.
In 2022, we were able to enroll Harper at Sandhills Children’s Center, a school with in-house occupational, physical, and speech therapy. The dedicated team at Sandhills has been instrumental in helping Harper progress, providing a nurturing environment where she could thrive and grow alongside her peers.
Each milestone was a battle won. After months of relentless effort in physical therapy, Harper took her first independent steps past two years old—a moment of pure triumph. In June 2023, she had ear tubes implanted to combat recurring ear infections, a procedure that brought relief and bolstered her resilience. Language and other skills have been a steeper climb, but Harper communicates with her own vibrant voice through gestures and determination. Her SYNGAP1 journey has tested her, but she meets every challenge with courage.
The road was not easy. As parents, we wrestled with worry, wondering if we were doing enough, chasing answers while clinging to hope. MRI scans were normal, baseline genetic testing was normal, but we knew something wasn’t right. That hope shifted in October 2023, when Harper’s diagnosis changed our lives forever. Whole-exome sequencing, guided by our neurologist at Duke University, revealed a mutation in the SYNGAP1 gene.
The diagnosis brought clarity and heartbreak. The genetic counselor explained the impact of SYNGAP1-related disorders – hypotonia, gross motor delays, speech delays, seizures, and more. Suddenly, Harper’s struggles had a name, but the weight of a lifelong condition with no cure settled heavily. When Harper turned three in September 2024, she developed severe drop seizures, adding a new layer of challenge. It took until January 2025, with the introduction of two additional medications, to bring these seizures under control. Through it all, Harper’s resilience shone brightly. We mourned the future we’d imagined while marveling at how Harper had already defied so much.
In our search for understanding, we found the SynGAP Research Fund (SRF). SRF became our lifeline, connecting us to a community of families who understood our journey. Within weeks, we connected with another SYNGAP1 parent whose empathy helped us navigate our fresh grief. Harper began participating in a study at the Children’s Hospital of Philadelphia (CHOP), giving us hope and purpose. SRF empowered us to fight for Harper’s future, and that has made all the difference.
Harper faces her SYNGAP1 challenges with unwavering courage. She tackles each hurdle with grace, from weekly occupational, speech, and physical therapies to medical tests and study visits at CHOP. But Harper is so much more than her diagnosis. She is a vibrant 3-year-old with a loving spirit. Her belly laughs are contagious, lighting up any room. Harper loves splashing in water and playing with friends; her joy is boundless. She’s endlessly affectionate, wrapping everyone in her warmth, and her creativity shines when she finds new ways to connect and play.
As we reflect on Harper’s journey, we’re filled with gratitude for her strength and the community that surrounds her. Harper’s story is one of resilience, love, and the power of connection. Though this isn’t the story we planned, we hold hope for her future, knowing she’s part of a fierce community working toward breakthroughs for all SYNGAP Warriors. Happy Harper reminds us daily: she is unstoppable.
