A Chicago mother, Laura Johnson, experienced heartache when her daughter Mila was diagnosed with a rare genetic condition, despite previous assurances of normal development. Laura began to notice concerns at around 5 months old, observing that Mila wasn’t sitting up or using her hands as expected. As Mila’s mother, Laura felt strongly that something was amiss.

Family and doctors often reassured her, citing individual developmental variations, which left Laura, also mother to Mason, 8, and Maddox, 4, feeling frustrated. Although she sometimes doubted herself, Laura’s instinct persisted. Reflecting back, she now recognizes warning signs that were not immediately apparent. Mila, who had once been able to roll over, lost that skill and others, failing to acquire any new abilities.

The situation worsened around 10 months, with Mila no longer able to hold her bottle or interact as she once did. She lost head control and, just before turning one, began experiencing infantile spasms. Hospital tests revealed frequent brain seizures. Genetic tests diagnosed Mila with STXBP1, a rare neurological disorder that impacts development, intellect, movement, and causes seizures due to changes in the STXBP1 gene, affecting 1 in 26,000 to 30,000 births. Epilepsy is prevalent, with 85 to 90 percent affected, and seizures often start in infancy.

For Laura, the diagnosis, while painful, provided clarity. Mila faces challenges, but continues to progress. Laura documents Mila’s journey on social media (@milas_crew), celebrating milestones achieved through ‘thousands of hours of therapy and determination.’ Her advice to other parents is simple: trust your instincts and persist in seeking answers if something feels wrong.

She urges other parents, ‘Trust your instincts. If something feels off, ask questions, seek additional opinions.’ Laura also advocates for seeing beyond Mila’s diagnosis, asserting that a child with a disability can lead a fulfilling life. ‘Mila shows daily that her diagnosis does not define her.’