At 6 months old, Bella underwent corrective craniosynostosis surgery, followed by strabismus surgery at 14 months. Throughout this time, she experienced failure to thrive and began receiving early intervention services. Shortly after turning 2, she abruptly went into heart failure and was airlifted to UCSF, where she had previously undergone surgeries. She was diagnosed with pulmonary hypertension and, after 3 years of supplemental 24-hour oxygen and 15 daily medications aimed at restructuring her heart, she was cured.

Despite numerous medical appointments and diagnoses, we sought an explanation for her array of symptoms. Genetic testing at UCSF provided answers through genome and exome sequencing, diagnosing her with Arid 1B gene mutations.

In addition to her genetic disorder, Bella is on the autism spectrum, has anxiety, a history of kidney stones, and now faces the need for extensive orthodontic care, including two oral surgeries to correct the impacted teeth and severe underbite.