Amelia’s Journey: Living with SYNGAP1

A family built on love, strength, and a deep commitment to supporting one another. Each of our three daughters brings something special, and while their path has been filled with joy, it has also brought unexpected challenges.

Amelia was diagnosed with SYNGAP1 in 2018, a rare genetic disorder that affects fewer than 2,000 people worldwide. The condition is caused by a mutation in a gene vital to brain development, disrupting how neurons communicate. This results in a wide range of challenges, including epilepsy, autism, intellectual disability, motor delays, and sensory processing issues.

Amelia requires full-time care and assistance with daily tasks such as eating, dressing, and hygiene. Though she is curious and active, her limited awareness of danger means she needs constant supervision. Despite these obstacles, Amelia radiates joy. She is resilient, affectionate, and full of life. She loves animals, horseback riding, swimming — and has a quirky passion for wearing latex gloves. Her spirit is unforgettable.

She attends school in a specialized classroom where she approaches learning with enthusiasm. While her progress is slow due to cognitive delays, her determination never falters. Her weekly schedule is filled with essential therapies — including physical, occupational, ABA, art, music, and equine — all of which play a vital role in helping her build communication skills and independence. On weekends, she finds joy in outdoor adventures, especially picnicking by the beach.

Giving back is deeply important to Amelia’s family. They offer guidance, advocacy, and resources to other SYNGAP1 families, particularly those who may feel isolated or overwhelmed after a diagnosis. Sharing what they’ve learned is one way they honor the support they've received.