Baby B, our Big Bubba, has always been a mystery. On October 21, 2011, I had contractions all day and just stuck it out thinking they'd go away. But when I finally realized I'd be having my babies early the next morning, I wasn't worried. We were 35 weeks along, we'd had a rough road through the pregnancy and were scheduled for induction on the 26th due to a new diagnosis of cholestasis of my liver that could end up being dangerous if our littles stayed in too long. I was excited!
The babies were both doing great, baby A, our little lady, had concerned us a couple times in monitoring, not practicing her breathing and not moving around as much as we'd hoped. But she was looking good by that point, good size and strong. Baby B, Big Bubba, was never a worry. He moved when we wanted, his measurements were great, and he was BIG!
Then they were pulled out by c-section, Gracie first, by the feet, and I heard her cries. It took a minute but I heard them. Then Caleb, feet first as well, and everyone commented on how long he was. I heard his cry and I took a deep breath knowing we were safe.
Then they were weighed and measured. Caleb wasn't long, he was shorter than her. He wasn't big, he was smaller. Significantly. The only reason he looked long was because he was so skinny and he came out completely straight, stretched out instead of curled in fetal position.
But he cried, and he turned pink, and the doctors said he was great. They were great!
Then the feeding issues. They both struggled at first and had their own challenges, but Caleb's didn't resolve. After a hospital stay at 5 weeks for bronchiolitis, his breathing continued to seem labored. His left tear duct was constantly clogged and swollen. He rolled later, sat later, and ended up with plagiocephaly from lying on one side of his head too often. He would pull away from the bottle screaming in pain but then constantly want more. He cried for hours on end and needed to be bounced all the time.
At 8 months old, he got sick. He had high fevers and had short episodes of tremors that sent us to the hospital twice but ended with no answers. Then that fateful night when his cries sounded strange. Some of it's blurry but I remember vividly holding him in our office because he was too hot to leave in his crib. We were googling how high of a temperature is too high when ben read that febrile seizures are something to watch out for. I knew that already from the doctors concerns earlier in the week, but then, I look at Caleb on my left hip and he's shaking on his right side. His head pulls back toward the right and shakes for a few seconds in that direction. I panicked and ask ben if he saw it and once he confirmed, I packed a bag as we called the doctor. I was already in the car when she told us to go to the hospital. I remember when we got there he had a 104.6 fever. I remember them getting him back to a bed immediately and I remember them trying to cath him twice, but still not getting a urine sample. I remember them doing a spinal tap and my heart breaking. Then I remember being admitted. They would be doing an MRI, an EEG, and waiting for blood results. They would eventually try to place an IV eight times and still not succeed. I remember him screaming. I remember crying hot burning tears.
And then I remember calm. I answered their questions, I heard about the blood infection, I saw all of the concern as the infection didn't resolve. I know it was bad, but I also know it was out of my hands and I felt calm.
The blood infection did resolve. The MRI did happen and the results weren't pretty, but they weren't clear either. The first Neuro said it was fairly unremarkable, the second said he had a thin corpus callosum and low white matter volume. "He may or may not go to college", he said.
The third Neuro was concerned and followed him intently, worried about his mobility and feeding. He gave Caleb the Cerebral Palsy diagnosis at 10 months, much earlier than normal, because he knew we'd need the services that diagnosis would give him, and we needed them now.
By 11 months we stopped trying to correct his head shape with helmets because his head wasn't growing. They couldn't correct a head that wasn't growing. He got the microcephaly diagnosis much later but we knew back then. By 15 months he was crawling and then his stimming behaviors really showed. We thought he just needed some mobility so the stimming could calm down, but the crawling didn't help. He rocked and flapped as often as he could. He wasn't trying to talk and speech therapy wasn't making much difference. By 18 months I had serious concerns outside of the CP and by 20 months I got him into a developmental psychologist who gave him an autism diagnosis, much earlier than normal, because he knew we'd need the services that diagnosis would give him, and we needed them now.
By 24 months he took his first steps and then walked by 27 months. By around two and a half I noticed a curve in his spine that was progressing. I remember sitting over him in the bathtub while he bent over to reach a toy and the curve looked scary. I got him into the orthopedist and received a neuromuscular scoliosis diagnosis well before he turned 3. I remember calling ben to tell him that it wouldn't be getting better. That it's degenerative and spinal surgery was a certainty in his future.
Our fourth Neuro (insurance change) scheduled a follow up MRI at 27 months and called a week later to tell me Caleb had Periventricular Leukomalacia (PVL), a death of some of the white matter in the brain. Typically seen in micro-premies, not in babies born at 5lbs 7 ounces with no time in the NICU. He said he also had delayed mylenation (the connections in the brain that allow for development) that we'd follow to watch for progress or eventual stalling. The corpus callosum was indeed thin and the brain volume in general was low. It wasn't a good phone call but I had hope that the myelin would progress.
Around 3 we noticed that Caleb was definitely not sweating from anywhere but his feet. I recognized his skin had strange splotching and he would get these bright red patches on his head and face for no apparent reason. At 3.5 he got a fever that lingered for two months (when I finally just stopped checking) with no symptoms. He was admitted, poked, prodded, and tested to no avail. They ended up doing cardiac testing to look for autonomic dysfunction but all came back normal. We still don't know where any of this will lead us.
Caleb's febrile seizure was a single instance as far as we could tell, but he started having strange episodes at 18 months old. One night when he wasn't feeling well, we brought him into our bed to lie down and about ten minutes later, in the dead silence of the night, Caleb started laughing. He laughed for several minutes, uncontrollably and for no reason. Then around 3, the laughing fits started happening at night more regularly. Sometimes he'd laugh in the middle of the day unprovoked but the night times were unexplainable. Then I noticed twitching just before he turned 4. Sometimes one jerk, others it would be several jerking motions in a row, spaced out by 30 seconds or so. Then the paralyzation or spastic episodes started just a couple months ago. Only 3 so far, and none in the last couple of weeks. No answers yet.
I remember hearing so many doctors over the course of Caleb's first couple of years point out specific features on him that looked like slight genetic abnormalities. I wondered how they knew, and then we entered the world of genetics. They tested him for Angelman's Syndrome four times before believing he didn't have it. They tested him for Prader Willi. They got a chromosomal microarray back that proved nothing and then they asked about doing full exome sequencing. We have amazing insurance so it was hardly a question. The first round came back inconclusive. One year later, they found it. TRAPPC9 Gene disorder. Autosomal recessive- he inherited two defects on the gene from both Ben and I. It's been found in, now, 8 families in the world as far as we can tell. Those effected have a spectrum of symptoms, including low white matter volume/ PVL, moderate to severe intellectual disability, communication disorders, autism, cerebral palsy and motion disorders, mild facial dysmorphia, truncal obesity, seizures, and body temperature dis-regulation. Caleb has all but one. This diagnosis was the hardest yet, knowing that there wasn't a magic cure or therapy to "fix" his DNA. Knowing that others never learned to talk. Finally accepting that this was it and we would need to learn to live with it instead of change it.
We've swung through phases of medical complexity and phases of behavioral complexity and right back again. For the past 18 months, the medical complexity has always been punctuated by challenging behavioral issues and recently my focus has turned from figuring Caleb's medical issues out to helping us survive as a family through Caleb's behavioral concerns. He's a big kid, he can get frustrated and aggressive, and he doesn't understand consequences. Pain, both to himself or others, doesn't resonate correctly for Caleb and it was becoming a problem. I feared keeping our two beautiful children under the same roof. It was unspeakable.
Caleb has always been a mystery. The amount of time and work we've put in as a team to help him with these behaviors has been remarkable. The best minds we've found have been stumped on how to manage it. At a doctors appointment just before his fourth birthday I broke down and begged for another option. Surely there had to be something that we hadn't tried. I'd brought it up before but this time I was serious- I think we should try medicating him for his hyperactivity, or attention, or sleep issues, or self injury. They agreed. We started Caleb on low-dose Tennex, a hypertension medication, a week and a half ago. Three days ago, Caleb had his first meltdown-free day in months. Today, he had his third melt-down free day in a row.
Hope is dangerous in cases like Caleb, I truly believe that. I'm very cautious with hope and I guard my heart tightly with focused realism and often pessimism. I need that to feel the small victories. But today, I'm letting some hope creep in for my boy and for our family.
I feel hope that after his neuromuscular scoliosis diagnosis we found an experimental body suit that actually decreased the curve in his spine and has held strong with continuous therapy. I feel hope that his delayed myelinated isn't stalled completely. I feel hope that we have a community to belong to with TRAPPC9 instead of too many diagnoses and no connection. I feel hope that my son might not feel so sad all the time. He might be able to truly watch the world around him, focus in on what catches his eye, and learn. I feel hope that he can feel comfort, peace, and calm.
Caleb has always been a mystery, but I'm not done piecing this beautiful puzzle together.
Eight month old Caleb in his EEG. It feels like a million years ago...
