When Brittany Miller welcomed her daughter Brooke into the world, she had no idea what the next few months would bring. At just a few weeks old, Brooke began having serious and significant seizures—sometimes hundreds each day. Her mother would watch in fear and wonder what this meant for Brooke; would she survive? Be okay? How could she help?

After pursuing care for Brooke, doctors determined that Brooke had a rare genetic neurological disorder called Aicardi syndrome. Only an estimated 1,000 people in the United States, and 4,000 people worldwide, have been diagnosed with Aicardi syndrome. However, the Aicardi Syndrome Foundation notes that this condition may go undiagnosed due to lack of medical access, atypical presentation, or early death.

As reported by Micaela Marshall in Arizona’s Family, Brooke’s epilepsy is drug-resistant, meaning that treatments were relatively ineffective. 13-year-old Brooke and her family have been searching for ways to reduce this burden. In doing so, they found vagus nerve stimulation. Vagus nerve stimulation uses an implantable device that delivers pulses of electrical energy to the brain by stimulating the vagus nerve. It offers a way to prevent seizures and, in some cases, stop them as they are occurring. 

After Brooke began vagus nerve stimulation treatment, her seizures rapidly dropped in frequency; she now has under 10 seizures daily. Her family also says that vagus nerve stimulation has improved Brooke’s quality of life and given her more energy. 

About Aicardi Syndrome

Aicardi syndrome is a rare genetic disorder that predominantly affects females. While doctors do not know the exact cause, they speculate that it results from a spontaneous gene mutation in an X-linked gene. Aicardi syndrome has also been observed in some males, often those with Klinefelter syndrome. There are no disease-specific treatments or cures for Aicardi syndrome; treatment is symptomatic and supportive. 

Characteristics of Aicardi syndrome include infantile spasms, agenesis of the corpus callosum (where the structure that connects the right and left halves of the brain fails to develop normally), and chorioretinal lacunae (small holes in the back of the eye). Additional symptoms and characteristics may include:

• Tonic-clonic seizures and other seizures
• Brain malformations
• Intellectual disability and/or developmental delays
• Fluid-filled brain cysts
• A flatter nose and larger ears
• Difficulty eating
• Diarrhea or constipation
• Hand deformities
• Scoliosis
• Microcephaly (an unusually small head size)
• Abnormally small eyes
• A coloboma (a hole/gap in an eye structure)
• Yellowish spots on the eyes
• Gastroesophageal reflux
• Muscle stiffness and spasticity