Brinley’s Medical Journey

Brinley was born in September 2024 and has brought more love and light into our lives than we could have imagined. Not long after birth, we began noticing some developmental concerns, which led to several appointments with specialists. After a series of genetic tests, Brinley was diagnosed with SOX2 syndrome, a rare genetic disorder that affects early development, particularly of the eyes, brain, and pituitary system.

Brinley’s SOX2 disorder has led to several disabilities and medical challenges, including:

Vision impairment: Brinley is blind in her right eye, consistent with microphthalmia (an underdeveloped eye). Hearing loss: She is hard of hearing and wears hearing aids to support her development. Neurological abnormalities: An MRI of her brain revealed multiple structural differences, including abnormalities in the corpus callosum and midline structures, which increase her risk for seizures and developmental delays. Feeding difficulties and reflux: Brinley has experienced feeding challenges since infancy, likely due to a combination of reflux and coordination issues. After a recent episode that looked seizure-like, her neurologist determined it was actually Sandifer syndrome, a reflux-related condition that can cause unusual spasms. An esophagram on June 27 confirmed significant reflux, but fortunately showed no structural issues with her esophagus. Endocrine monitoring: Children with SOX2 disorder often have pituitary hormone deficiencies, so Brinley is being closely followed to monitor her growth and hormone levels over time.

Despite these challenges, Brinley continues to amaze us with her strength, spirit, and progress. She is followed by a multidisciplinary team including genetics, neurology, ophthalmology, audiology, gastroenterology, endocrinology, and early intervention therapists. Every small milestone feels like a victory, and we are so proud of her resilience.

We’re taking things one day at a time and doing everything we can to ensure Brinley has the support she needs to thrive. Your love, encouragement, and presence in our lives continue to make a real difference — we are endlessly grateful.