MaverickSequencing Saves Life

His birth was uneventful. His development seemed normal.

From the moment Maverick Coltrin was born, all signs pointed to a healthy and happy life.

But at 6 days old, Maverick stopped eating. His mother, Kara, noticed mild spasms. She called the family’s pediatrician who instructed her to take the tiny baby to the emergency department. When they arrived, it had been nearly eight hours since Maverick had eaten. He was jaundiced, and soon began spitting up blood. He was immediately admitted to Rady Children’s Hospital-San Diego.

Seizures gripped Maverick’s tiny body, stiffening his arms and legs nearly every two minutes. He turned a shade of blue; he was declining rapidly.

In the neonatal intensive care unit, geneticist Kristin Wigby, MD, examined Maverick. “He had jerky movements in his extremities, and was making sucking movements even though he wasn't feeding,” says Dr. Wigby. “He also was having abnormal eye movements and was unresponsive when I was assessing him. It was a very, very abnormal exam for a little baby.”

NICU physicians ordered nearly 30 tests in hopes of saving Maverick’s fragile life. One of those tests included rapid whole genome sequencing as part of a clinical trial through Rady Children’s Institute for Genomic Medicine. The analysis would determine if there was a genetic cause to Maverick’s puzzling symptoms.

Exactly 39 hours later, researchers arrived at a diagnosis—two mutations on Maverick’s ALDH7A1 gene, the gene responsible for causing a rare form of seizures called pyridoxine-dependent epilepsy.

“Because we had also sequenced his parents, we were able to see that Maverick had inherited one of each of those faulty copies of the gene from each of his parents,” Dr. Wigby says. “And because both copies had a faulty change in them, it likely was causing the gene not to function properly, causing intractable seizures.”

Following changes to his treatment protocol to continue vitamin B6, and add dietary modifications, and after about 36 hours post-diagnosis, Maverick was no longer seizing. He was able to be taken off of the ventilator, his parents were able to hold him and he was able to eat. About a week and half later he was able to go home with his parents. “It was a pretty amazing turnaround for this little guy,” Dr. Wigby says.

Maverick’s diagnosis had important information for his parents as well. They are both young and were each found to be carriers for the condition. “If we decide to have more children, I would just have to take a B6 supplement to ensure that it goes through me to the baby,” Kara says. “It’s amazing to see how big he’s gotten and to watch the things that he’s able to do. It’s just been amazing to watch him grow.”