TGen Blog : Aicardi Syndrome: One Family's Story
Main Image

Aicardi Syndrome: One Family's Story

TGen's Center for Rare Childhood Disorders provides a long-sought diagnosis and new hope for Reese's family.

By J.P. Holyoak

When my wife Jen and I found out that we were pregnant in the spring of 2008, we were ecstatic. Everything was normal, until a routine ultrasound in the 28th week. It was a day I'll never forget. The doctor informed us that there was an abnormal, "cyst-like" object in the brain of our little girl.

We began a whirlwind of tests. The doctors ultimately had no idea what the cyst meant or how it would impact the life of our daughter. They told us that many people have undiscovered cysts and that it could be nothing to worry about after all.

On December 4, 2008, Reese was born. She came into the world kicking and screaming and seemed to be the epitome of a healthy baby girl. She was the most beautiful thing I'd ever seen. For the next couple of months, everything seemed perfectly normal with Reese.

One day she started making an irregular, jerking motion. We immediately took Reese to Phoenix Children's Hospital. She was having seizures. We spent the next two weeks at the hospital. Reese was having 25 to 30 seizures per day. Our lives would never be the same.

We started down the long road of finding a diagnosis for Reese's condition. We did every available genetic test. All came back normal. After more than a month, we were told that Reese might have Aicardi Syndrome.

The statistics were grim: We learned that Reese would probably never walk or talk. She would have the development level of a 1-year old, and her expected lifespan would be about eight years. We also didn't know if Reese actually had Aicardi Syndrome, since there was no known genetic marker for the condition.

The uncertainty has made treatment extremely difficult. While there may not be a cure for Reese, we continually seek to manage her symptoms and control her seizures. Perhaps the greatest frustration has been the limited knowledge of Reese's condition.

Reese was selected to participate in a TGen study to look for the genetic marker for Aicardi Syndrome. Reese's genome was mapped as were those of my wife and me. Specifically, TGen was looking for an anomaly in the genetic sequence that would "mark" her condition. TGen found it.

Now that the specific genetic marker has been found, it begs the question: How will this positively impact Reese's life? The short answer is that I don't know. What I do know is that this discovery will lead to more knowledge of specific conditions, allowing physicians to diagnose more accurately and treat these children.

Most parents measure their child's progress in academic, athletic and social achievement. Parents of special-needs children often use different metrics. We measure Reese's progress in smiles and laughs per day.


Media Contact

Blog Archive