The War
Aicardi Syndrome is a rare genetic disorder that affects mainly girls, and it is caused by an unknown mutation on the X chromosome. There are only approximately 1000 cases of Aicardi Syndrome in the United States. The three hallmarks of Aicardi Syndrome include:
Absence of the Corpus Callosum, the structure that connects the two hemispheres of the brain;
Seizures called Infantile Spasms, a particularly dangerous type of seizure with onset as an infant;
Malformations of the eyes called Chorioretinal Lacunae. This causes vision deficits, including potential blind spots.
In addition, Aicardi Syndrome is often paired with other medical complications and diagnoses, developmental delays, and more. This impacts the daily life of everyone who has Aicardi Syndrome, and that of everyone involved in their care. Average life expectancy for those with Aicardi Syndrome is approximately 30-40 years, with exceptional cases living into their 50s. For more information about Aicardi Syndrome, you can visit the Aicardi Syndrome Foundation website.
Living with Aicardi Syndrome has been a constant battle for Tilly and our family. It requires ongoing medical care, specialized therapies, and adaptive equipment. Tilly's seizures have been difficult to control, and she has required multiple hospitalizations and daily medical interventions to manage her symptoms.
Tilly’s experience with Aicardi Syndrome has included uncontrollable seizures that have been resistant to treatments and medications. She has been through several different specialized treatment plans that have resulted in mixed results. Ultimately, however, nothing has worked to properly resolve her seizures that happen multiple times a day.
Tilly also experiences significant developmental delays and visual impairment. She is unable to talk or communicate in any effective way. Her ability to socialize with others is extremely limited. However, she does smile, laugh, vocalize happy noises and screeches, and, miraculously, she learned to walk a few months after her 2nd birthday!
Tilly has been and continues to receive specialized therapies to help encourage her growth and development. She has spent time in and out of doctors offices, hospitals, and other treatment facilities so far in her young life, which she is expected to continue to require throughout her lifetime.