Bennett’s Story: Birth to Diagnosis

When you find out you’re pregnant for the second time, you are fairly confident that everything will go routinely. You’ve been through this before, you don’t have time to worry about the “what if’s” and you figure that the chances are you’ll have a healthy pregnancy and baby.
My pregnancy with Bennett went fairly smoothly, nothing too concerning or abnormal. After he was born, he was slightly smaller than we anticipated, but again, nothing too concerning. His first few months he struggled to gain weight, but so did his older brother, so we weren’t too worried. At about 3 months, I was looking back at pictures of my oldest at that age and realized he was holding his head up and tracking with his eyes better than Bennett was, so I mentioned it to the pediatrician at his check-up. She agreed that he needed to work on head control, so we started physical therapy by 4 months. At our 6-month check-up, I was growing more concerned because Bennett still wasn’t tracking, responding to his name, sitting up, or having steady head control. When I asked his pediatrician, she said that he was making gains and it’s “hard to know when to start worrying.” As we were leaving, I stopped and said, “Do you think it could be something neurological?” and she agreed to put in a referral for an MRI and to see a neurologist.
Bennett’s MRI results were normal, so we felt instant relief. Maybe he was just going to take longer to meet his milestones! There must not be anything seriously wrong. Maybe he has autism or a learning disability but it’s too soon to diagnose that. I showed up to Bennett’s neurologist appointment without Bennett’s father thinking that she was going to laugh us out of the office saying he’s fine and there’s nothing to worry about. I got the opposite. After examining him for a good 45 minutes, I asked her what she thought. She responded gravely, “I have a list of possible concerns.” We left that night with blood and urine tests ordered for infections and a myriad of questions and concerns. What was wrong with my precious baby???
About a month later, when Bennett was 7 months old, we were at a birthday party and Bennett was sleeping in his car seat next to me. All of a sudden, I looked down and Bennett had his arms and legs extended stiffly straight out in front of him, his face was turning from red to purple, his eyes were bulging out of his head, and he wasn’t breathing. I pulled him out frantically, calling his name and, as the thought, “My baby is going to die right here, right now” went through my head, I laid him on a table to start CPR when he finally took a gasping breath. A friend called 911 and we took an ambulance to the ER to get him checked out.
At the hospital, the doctors said he looked “fine” and he “probably had a febrile seizure, which is not a concern.” The problem with that theory is that he wasn’t sick and didn’t have a fever. I pointed that out, so the doctor scheduled an EEG for 3 weeks away “just as a precaution.” He had three more of these terrifying episodes before his scheduled EEG. Each time, I was scared I would lose him.
After the EEG, the neurologist called to tell us that he had been diagnosed with Epilepsy and she wanted to start him on an anti-epileptic drug, Keppra. I felt relief that maybe this would work and we could go back to our normal, happy lives. Wishful thinking.
Bennett’s “big” seizures stopped after starting the Keppra, but we started noticing weird startle movements when he was old enough to not really have an intense startle reflex anymore. Then, they started to come in clusters, over, and over, and over again. I called the neurologist and she said that babies do that and it’s probably normal, but she’ll schedule a follow-up EEG just in case it’s not.
Two hours after our follow-up EEG, we received a phone call from a doctor who reviewed Bennett’s results saying that Bennett had something called Infantile Spasmsand chaotic brain waves called hypsarrhythmia. The doctor went on to say not to Google it and that it was a “very scary disorder.” He instructed us to head to the pharmacy immediately to pick up a steroid, Prednisolone, which was “supposed to” stop the spasms forever after a week or two. That night, after his first dose, our son who doesn’t cry, cried for three hours straight. After 6 (!) weeks of the torture that is Prednisolone, Bennett’s spasms and hypsarrhythmia were still there. We were devastated and scared. What’s the next step for a rare form of epilepsy that doesn’t respond to treatment??
After Bennett’s Infantile Spasms diagnosis, his neurologist was able to narrow down possible disorders that may be causing his global delays and seizures. He took a blood panel test which tested for over a hundred rare disorders. My stomach lurched as I turned in the paperwork that read “intellectual disability”, “Infantile Spasms”, and “global delay.” It’s difficult to read those things about your beautiful, innocent child. Six long weeks later, when Bennett was 11 months old, I received a phone call that would change my family’s lives forever.
“Hello?”
It was Bennett’s neurologist.
We have the, uh, results of Bennett’s test. We now, uh, know what is causing all of his issues.” She could barely get it out and was making my head spin at this point. I laid down on the bed and did some deep breathing so I wouldn’t pass out. I knew it was not going to be positive news, but I never imagined that it was as bad as it actually was. She told me that he was missing a protein essential for brain development and that she would email me a link to the foundation website and a Facebook parent support group. I had no idea what it was called or what “missing a protein” meant, but the fact that she referred me to a support group meant that it was bad. REALLY BAD. She also told me that we needed to “adjust our expectations” in terms of having control of Bennett’s seizures and spasms. Those words still haunt me now.
Bennett’s dad, Jeff, looked it up as soon as I told him and his reaction told me all I needed to know. I couldn’t bring myself to look up the links until the next morning. My eyes swam in tears when I actually read the words “CDKL5”, “most never walk, talk, or feed themselves”, “difficult to control seizures”, “wheelchair bound”, “Cortical Vision Impairment”, “Feeding Tubes”, “Rare”, and the list went on.
I tried to go to the gym later that morning, but couldn’t stop the tears long enough to make it into class. I wanted to get out of my house so that I didn’t just lay in bed and cry all day, holding my baby. I ended up taking Bennett for a long walk to try to process everything I had just learned. He was still my precious boy. That had not changed. What HAD changed were my hopes and dreams for his future. What about his college fund we already started for him? What about all the toys we saved for him that he will never be able to play with? No sports, no dates, no prom, no marriage, no kids… I now had to grieve MY dreams for him and accept new ones.
I actually couldn’t bring myself to join the support group for about a month. I thought it would be too difficult to see what Bennett’s future will look like through the other families. When I was finally strong enough to handle it, I started by searching one CDKL5 family on Facebook and when I saw their adorable 3-year-old boy, I immediately felt a sense of familiarity and hope. His mannerisms, his look in his eyes, everything, reminded me of Bennett. These kids are Bennett’s extended family, I realized. I ventured into the group even more and befriended several families who had boys and girls around Bennett’s age and it felt great to not feel so alone. A diagnosis of rare, devastating disorder can feel very lonely and isolating without any support.
Bennett’s first year was the hardest year in my life. It has changed me forever in many ways, good and bad. I can honestly say that I don’t grieve for Bennett the way I did in the beginning. Yes, when his seizures are rough or he’s sick, it’s really difficult to not to go down that route, but on a normal day when he’s happy and healthy, I enjoy my sweet, cuddly angel and appreciate him for being HIM. I no longer wish for him to be someone different who can experience a different life. He’s happy living his best life and that is all I want for him.


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