A Mother’s Intuition: Navigating a Child’s Rare Genetic Condition

Laura Johnson from Chicago faced heartbreak when her daughter, Mila, received a diagnosis for a rare genetic condition despite past reassurances of normal development. Laura recounted to Newsweek that doubts surfaced when Mila was about 5 months old. She wasn’t sitting, wasn’t using her hands the way she should, and just seemed to be falling behind, she said. As her mom, I knew in my heart something was wrong.

Family, friends, and doctors reassured her that children develop at their own pace, suggesting Mila would eventually catch up. Laura, also the mother of Mason, 8, and Maddox, 4, found this frustrating. Even if she occasionally doubted herself, a lingering feeling persisted that something was being missed. She recalled, A mother’s instinct is powerful, and mine was right.

Looking back, the warning signs were more apparent. Mila sometimes lost skills overnight. By 10 months, she had stopped holding her bottle, stopped grabbing toys, and lost head control—a challenge lasting years. Around her first birthday, Mila began to experience infantile spasms.

After an EEG revealed constant seizures, genetic testing identified Mila’s condition as STXBP1. This disorder leads to developmental delays, intellectual disability, movement issues, and seizures. The STXBP1 gene is crucial for nerve cell communication, and its mutation affects one in 26,000 to 30,000 births. Epilepsy is common, with 85 to 90 percent experiencing seizures early in life. There is no cure; treatment focuses on managing symptoms through medication and therapies tailored to each child.

The diagnosis brought sadness but also provided the answers Laura sought. Despite challenges, Mila continues to make progress. Laura shares her journey on social media (@milas_crew), celebrating every achievement. Each milestone represents extensive therapy and determination.

Laura urges other parents to trust their instincts and continue asking questions if something feels wrong. She encourages seeking multiple opinions if needed. She hopes people view beyond Mila’s diagnosis. A child with a disability can still live a beautiful, joyful, meaningful life, Laura said. Mila continues to prove every day that her diagnosis does not define her.

This story was shared with Newsweek editors Charlotte Nisbet and James Debens.