“My husband, Alex, and I started dating in 2012 when we were sixteen years old. We got engaged in 2019, bought our first home in 2020, and then found out we were expecting our first baby a couple of months later. At first, I was nervous. It’s almost surreal when you first realize you’re pregnant. I’ve had a pregnancy end in loss, so I had a million worries going through my head. I didn’t want to get my hopes up this time, but after each week went by, I became more and more excited. It was always my dream to be a mom.
My entire pregnancy was more than I could’ve ever hoped for. At 12 weeks we found out we were having a boy! Everything was just perfect. Every test and scan passed with flying colors. I felt great and most importantly, my baby was healthy. On May 2, 2021, at 7:32 a.m., our son was finally born. We named him Benjamin.
He was the most perfect thing I had ever seen in my life. He had brown hair, golden skin, the most beautiful lips, and the chubbiest cheeks. I was so in love. We were in the hospital for three days following his birth and every medical professional we saw told us he was in great health. As we were getting ready to be discharged the final pediatrician came into my room and asked me if I had any questions. I said, ‘No, I don’t think so.’ To which she replied, ‘I really don’t have anything to say to you, he looks perfect.’
Once we arrived home with Ben, it was pretty much your typical life taking care of a newborn. Feed them, change them, rock them to sleep, repeat. On our second night home, Benjamin woke in the middle of the night to feed. After he was fed, I took him into his room to change his diaper. I laid him down and began changing him when all of a sudden, I looked up and noticed a very intense, blank stare on his face. His head was turned all the way to his right and his arms were bent up.
He looked almost frozen. My heart sunk and I immediately picked him up. I remember saying, ‘Are you okay? ‘Are you breathing?’ and then, he was just fine. I woke Alex up and said, ‘Ben just did something weird.’ I had no idea how to explain it, but I knew something wasn’t right. I remember thinking what he did was ‘seizure-like,‘ but I couldn’t bear to say it out loud. Alex went back to sleep and so did Ben, but I stayed up for the rest of the night watching him to make sure he was okay.
After this, everything continued to be quite normal. I didn’t notice him doing anything strange again, and I forgot to bring it up at his check-up. At this point, I convinced myself it was nothing anyways. Until one day, I put Benjamin down for a nap, was watching him on his baby monitor, and saw his arms shoot up. He was doing ‘The Thing’ again. It’s really what I called it, ‘The Thing.’ I ran into his room and picked him up, but once I got there, he looked fine. I was really starting to feel crazy. Over the next few weeks, it happened probably two more times. I tried getting it on video, but it was over by the time I even got my phone out.
At Ben’s two-month check-up, I brought it up to his doctor. I told him I had a couple of videos, but they weren’t the best. I described the movements and showed his doctor the videos and he said, ‘It’s just an exaggerated startle reflex due to gas pains. As long as he doesn’t turn blue or fall asleep afterward, he’s fine.’ We left and I did not feel relieved by the doctor’s response. When we got home, I sat down on my bed and started Googling.
I could not find a single video of an ‘exaggerated startle reflex’ that looked like what Ben was doing. The more I searched, I came across videos of babies having seizures, which led me into a panic. When Alex got home from work, I told him everything. He called the pediatrician’s office back and scheduled another appointment. The next day we actually took Ben to the ER. I explained everything to the ER doctor, and I’ll never forget what he said to me. ‘You’re too far into the trees, I need you to come out of the forest.’ Basically, he called me crazy and told me I need to snap back into reality. He would not look at any videos I had. He told me Benjamin looked perfect. That was it.
The following week at the next pediatrician’s appointment, we saw a different doctor. I told her everything and showed her my videos. She took my hand and said, ‘You’re making yourself nervous. Stop making yourself nervous.’ I got a neurologist referral and left. The wait for the neurologist appointment was six weeks. Over those next six weeks, I drove myself crazy looking for anything I could to convince myself Benjamin was fine like all of those doctors said he was. However, he was doing ‘The Thing’ weekly now. There were really no other red flags. He was your typical three-month-old. But there was no doubt this thing he was doing was getting worse.
September 2, 2021, the day he turned 4 months old, was the day of his neurologist appointment. It was at 9:00 a.m. and in the city, so we had to leave early. Also, our entire area was under severe flooding from Hurricane Ida, which made things even crazier. As we arrived at The Children’s Hospital of Philadelphia, I remember getting out of the car and saying to Alex, ‘I’m starting to get nervous.’ He told me everything was going to be fine and to just relax.
We got up to the tenth floor and sat in the waiting room for a little while. Benjamin’s name was called, and we followed our technician into our room. She began marking Ben’s head and sticking wires all over it for his first EEG. An EEG is a test used to detect seizures and abnormal brain waves. After about twenty minutes, the test was over, and she took us into another room where Ben’s vitals were taken. Then we waited for the doctor.
This is an encounter I will never forget. Benjamin’s neurologist walked into our room and greeted us. He asked why we were there, and I explained. Without hesitation, this man said to me, ‘So, tell me about his head circumference.’ To which I replied, ‘What do you mean?’ He said, ‘No one ever told you about his head circumference? It’s really small.’ My heart sunk. I turned to Alex with the most terrified look on my face. From there, the neurologist began asking me questions about Benjamin and pointing out things that weren’t right. Then, I showed him the video I had just shown the other doctor. The neurologist confirmed it; Benjamin was having seizures.
We sat down and he told me Ben’s head circumference was in the <1 percentile; Ben had microcephaly. This did not make any sense to me. My baby had seen many pediatricians and they all told me he was healthy. No one ever told me his head wasn’t growing. A million thoughts were running through my mind. The neurologist told us Ben had to be admitted to the hospital for more tests and a brain MRI. He said the cause of Ben’s seizures and microcephaly was likely genetic.
We returned home to briefly pack our things and then we went back to the hospital. Ben was immediately hooked up to an EEG. This one would monitor him while we slept. At this point, I was still very much in shock. However, I was trying to remain positive. I think I was still just ignorant at this point. I had no idea what was to come.
The next morning, we learned Ben had three seizures overnight. This shocked me, as I was only used to seeing maybe one per week. They started him on his first anti-seizure medication and continued to monitor him on EEG. Next, up this day was his brain MRI.
I had no idea what the MRI would show. Truthfully, I didn’t expect it to show anything, so I wasn’t too nervous. I was mostly just nervous for Benjamin to be sedated. I held him while the sedation medicine kicked in, and then I placed his limp little body down on the hospital bed and watched them wheel him away. While we waited for him, Alex and I went to the cafeteria and I tried to eat some lunch. I got a call saying he was all done, so we went back to get him. He was still very sleepy for a while after.
The following day was truly the worst day of my life. The team of doctors was making their rounds and it was our turn. They knocked on the door and came in. The neurologist told us they had Benjamin’s MRI report and asked us to take a seat. I sat down in front of her and the first words that came out of her mouth were, ‘Benjamin was born missing part of his brain.’ I remember just looking at her in shock. She continued, ‘And the rest of his brain has multiple malformations. One half of his brain is actually smaller than the other.’ I couldn’t even speak. I looked over at my perfect baby and I just remember feeling confused and devastated.
The doctor asked me if I wanted her to show me any images. I looked down at the floor and shook my head no. I asked her what his future was going to look like and she said, ‘Kids like Ben can’t walk or talk, and most of them need feeding tubes to eat.’ She also said, ‘They usually live through childhood, but they don’t live until 80 like us.’ I felt like I had been hit by a bus. They left the room. I sat there and just started saying out loud, ‘This isn’t happening.’ ‘This can’t be real.’ ‘I can’t do this.’ ‘This can’t be our life.’ The next few weeks were hard. I cried every day, mourning the life I thought we would have. I had never felt so alone.
Until one day, I started looking up hashtags on Instagram. Microcephaly was the first hashtag I searched for. What I didn’t expect was to find an entire community of moms advocating for their medically complex and disabled children. I jumped right in and started messaging them. They truly saved me. As time went on, the more moms I connected with, the more I began to realize life was not going to be as terrible as it seemed. There will always be the fear of the unknown, but I was no longer alone because of them. I have now had moms of newly diagnosed children reach out to me for advice too. As someone who was in their shoes not long ago, it is so fulfilling to be there for them and be a help to them.
It’s been six months since the first neurology appointment and Benjamin has gained more diagnoses. The genetic testing came back, which gave us the cause for everything. Ben has a mutation of the TUBA1A gene. He is 1 out of only 200 documented cases in the world with this mutation. We also found out Ben has a visual impairment called CVI. He is developmentally delayed, but he is doing great compared to what we expected.
He currently receives PT, vision therapy, and OT feeding. He is sitting on his own, eating solids, and has great communication skills. It’s so easy to make him laugh! The amount of joy Benjamin has brought into our lives is more than I can even describe. He will always need extra help between therapies, appointments, medications, and basic care, but I wouldn’t trade him for the world. He will always be my perfect baby.”
This story was submitted to Love What Matters by Maggie Matthews from Bucks County, Pennsylvania. You can follow her journey on Instagram. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
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