We Asked, “Is This Normal?” But It Wasn’t.

August 23, 2016

On March 8th, 2016, he was born stiff, easily startled and riddled with seizures. It was clear early on that Aiden’s life would be complicated.

We called our hospital’s mommy page and described what was happening to them. Was this normal, we worried? Had they seen this in other infants? Was it some kind of response to a stimulant? They described it as an “immature nervous system.”

The episodes had happened for five days before we decided to take him to the emergency room– we had taken a video of an episode to show at this point. While we had a pediatrician examine Aiden, our baby began to seize in front of us. The doctor said that it did look like a seizure to him though. We were admitted to the PICU.

We were in and out of the hospital for about the first two months of his life. We had done a series of metabolic tests, started—then changed medications, sweet little Aiden had two spinal taps, a series of bloodwork and EEG’s through which the neurologist did confirm that he was having seizures.

He was put on phenobarbital and clobazam. The phenobarbital seemed to be working, but obviously put him to sleep more than the average baby. Results would come up negative so our last series of tests were to do a genetic mitochondrial panel, we waited for nearly two months for the results. When they finally came back we learned of a diagnosis: Hyperekplexia.

We were told that both my husband and I carry that gene. The geneticist did explain to us that it seems that in Aiden’s case it’s the first time that is presented where the gene sequence is different than other patients that have this rare condition, so he did explain that based on other cases with this condition that they think that either he will outgrow this or learn how to control it.

Aiden has shown tremendous improvement thus far with the help of PT, OT & DT along with the proper medication plan (clobazam) and the support of my husband and I. We have a lot or faith and believe that he will be okay. My advice to parents that just found out about their baby having this condition is to have a lot of faith, go with your instincts as parents and fight for them.

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