Dean was born a healthy baby. Around the time he was two to four weeks old, we started to notice some odd movements. They were like a startle reflex (where you hear a loud noise and get startled). But Deans were more exaggerated and repetitive.  They were randomly happening throughout the day.

At the time, we were worried, but we didn’t know what it was. Everyone usually says “they are just normal baby movements.” So, we started looking on the web for a doctor for babies with exaggerated startle reflexes. The one thing that we found in every click we made was infantile spasms. The things that stood out the most was the death rate, catastrophe epilepsy, developmental delays, and other more. Reading all of that just made it even harder to analyze and, in a way, to think that way of our newborn son. Thoughts went through our heads of “What if he does have infantile spasms? What’s going to happen?” 

I, at the time, was in disbelief that my son would have this so I would tell my husband,” Let’s just wait and maybe he will grow out of these odd movements.” Then one night, it was very quiet in our home and Dean was asleep in his rocker. He was about four to five weeks old. We noticed the movements again and that’s when I started freaking out. 

I went to Facebook and looked for infantile spasms and I found some groups. I clicked the first ones that popped up and shared a video of Dean doing these odd movements. And the responses were the same… definitely looks like infantile spasms.

The following day I took him to his pediatrician, showed her the video and explained the situation. She said, “It does look concerning. What I will suggest is taking down the times of these events and capturing more footage and I will put in a request for neurology.” Then she said, “It can take up to six weeks for a referral.”  So, we left and we did what she said. But we noticed that they were happening more frequently and getting stronger so we just rushed to the ER. 

They said the same things we kept hearing… they were just normal baby movements; we will assess him and see. We went into a room and it happens again and that’s when the ER nurses and doctors witnessed what we have been seeing and the look on their faces they were in shock and disbelief and said, “We will get a neurologist out ASAP.”

The Neuro came in, and it happens again, and she said,” We will have to run more tests in the hospital, so Dean will have to stay overnight.” That’s when it got even more real.  

We stayed for a week for the first hospital stay at CHOC. They ran multiple tests that included MRI, genetic testing, metabolic testing, skin testing, EEG, and blood work. When the results came back, the test that showed something came last. The EEG showed that he indeed did have infantile spasms. The MRI showed a right malformation. Genetics showed two mutations, one of them being GRIN2a.  At the time I didn’t know what that meant, but they mentioned that we would have to see a geneticist who would explain more.

After that hospital stay, we did learn a lot about his condition and the treatments. The geneticist explained that the disorder that Dean had, GRIN2a, was rare. They tend to develop epilepsy, a learning disability, speech delays, memory issues, and developmental delays. She did assure us that with therapies, Dean will be as normal as can be. Since then, Dean has been doing lots of therapies. His infantile spasms did turn into epilepsy.

At the moment, he has delays in all areas, but some more than others. He does have speech delays, but he is progressing and does know/ is learning sign language. Dean has always had a curve in his overall learning. He can do/say something new and then he will forget how to do or say it. He does need constant supervision because he doesn’t know or understand how the world works. 

So, we are sharing our story to raise awareness and to find a cure. And with that, maybe Dean will be a little more independent and not need so much care/supervision as he does now. We will always do everything we can to get Dean what he needs.