A rare diagnosis at a rare moment in time

Alex had his first seizure right as the world was about to shut down for Covid. His mother, Elizabeth, was feeding him in the wee hours of the morning when she felt his body shake. “I did not know a lot about seizures at that time,” she said. “I knew what I saw in movies, where seizures were very violent. It wasn’t that. It was just a tiny little shake.” She woke her husband and they put a baby sleep monitor on Alex’s foot. Fifteen minutes later, the monitor went off when his oxygen levels dropped and he turned blue. They called 911. 

Alex was their second child, so they were well-prepared parents. “What I did not know is what to do when your four-month-old is having a seizure,” Elizabeth recounted. Off they went to Connecticut Children’s emergency department. After a battery of tests, all of which came back negative, Alex went in for an MRI. The diagnosis was immediately evident. 

Lissencephaly, a rare congenital condition

The MRI revealed that Alex’s brain was smooth, instead of having the normal ridges and bumps. Like many children with lissencephaly, Alex faced other health challenges, as well—including epilepsy, cerebral palsy and cortical visual impairment. Elizabeth remembered Dr. Jennifer Madan Cohen’s eyes getting teary as she delivered the diagnosis. “My heart went out to her,” said Elizabeth. “She has to deliver this news as part of her job, that your child’s life is not going to be what you expect. Your child is not going to be as healthy as you hoped.” 

Dr. Madan Cohen, the medical director at Connecticut Children’s Epilepsy Center and Neurodiagnostics Center, became a vital, proactive partner to Alex and his parents. Medication now has his seizures under better control, and Dr. Madan Cohen worked with Alex’s preschool to get staff trained to respond properly to his seizures. “Had we not had such support from neurology to help get the school comfortable, I don’t know if his school experience would be what it is now,” said Elizabeth. 

“The biggest joy in the tiniest body” 

Today, Alex is four years old and still the happy, smiley kid he’s always been. He continues to have appointments with Dr. Madan Cohen every six months, and Elizabeth checks in with her weekly. He gets physical, occupational, speech and feeding therapy several times a week. He loves playing with any kind of ball and exploring the outdoors in his gait trainer, which enables Alex to walk with assistance. Most of all, he loves his big sister, Whitney. “I don’t even know what he loves more than his sister,” said Elizabeth. “I’m not even going to say Mom and Dad. His sister is absolutely number one.” Getting a difficult diagnosis during the pandemic was a mixed blessing. “It was scary from a services and support perspective,” said Elizabeth. Much of Alex’s early therapy had to be virtual. “But from a family perspective, it allowed us to really come together and be able to support each other more. It forced us to realize that this will be okay.”