Although I was grateful for the doctors’ urgency and eager for answers, my mind was torn off its tracks. Despite Taking Notes for years and knowing Liam was different; every single idea, hope, dream, fantasy, and preconceived notion I had about this boy and his future was derailing. There wasn’t shit I could do to change it, stop it, or fix it.
Brave Boy
February (2014) rolled around and it was time for surgery on Liam’s tear duct. I was encouraged to go into the O.R. with Liam. He was nonverbal (other than “ma”) and I was his translator to introduce him to the room, equipment, and team. Liam was so brave. He only panicked once, when I fell out of his view on the walk there.
Liam sat up in the bed and for 10 minutes, I translated all his questions and comments for the medical team. “What’s that?” “What’s that?” “Are you a doctor?” “I like your orange shoes.” “I want chocolate milk.”
No one rushed me but I asked if he was ready. He was! They cranked up the sleepy gas and handed me the mask to put over his face. He was out within seconds and as they started an I.V., I was ushered out. It felt like 10 minutes later it was done and Liam was awake.
Trisomy 13 aka Patau Syndrome
March is Trisomy awareness month. It’s also when I had to damn near put Liam in a half nelson to get a blood sample. (Oh my shit! That was traumatizing…for both of us.) While someone, somewhere in a lab analyzed samples; we took our first trip to Disney World with (almost) all the in-laws. Although I was semi-distracted squeezin’ cheeks with princesses, I was also semi-consumed with thoughts that the Magic Kingdom was the calm before the shit-storm.
The Day I Lost Myself
A week or so after getting home, I got a call from the genetic liaison. I locked myself in the office and proceeded to f*cking die. “He has Trisomy 13…” She was kind and patient when I zoned in and out of the conversation a few times. I knew about Trisomy 13. Google told me all about it and that 80% of babies born with Patau Syndrome don’t celebrate their first birthday. She pointed out that Liam was three and set up a genetics appointment to officially become patients, do a physical, and discuss how he’s three. (This is when I upgraded Liam’s medical records from a two-pocket folder to a 10 lb. accordion briefcase…oh my shit!)
Specialist! Assemble!
A week later we were in the geneticist’s office, which turned into a nearly 4-hour visit. Myself, my son, the liaison, geneticists, and a couple other specialists, who were only there because they were interested and put meeting Liam in their schedule, packed into an increasingly tiny exam room. I remember they were all a bit taken back when they were done shuffling and I verified that “this is Liam and I’m Liam’s Mom.” It turns out, Liam has a rare arrangement that is best described as Complete Isodicentric Trisomy 13 Mosaicism affecting over 80% of his blood cells.
Liam was stripped down to his skibies and every detail of him was examined and noted. They measured his head, face, nose, eyes, hands, nipples, fingers, creases in his hands, birthmarks, counted moles, searched his scalp, stretched him, tested reflexes, motor skills… holy shit everything! I had to interrupt the visit to help Liam through sensory issues. My voice was now the only one and Liam and I was having a conversation in sign language. I lifted him off the exam table and out of the room to do sensory diet exercises in the lobby. We walked back in and into a conversation. I vividly remember the geneticist pausing to say “he’s an anomaly amongst the rare.”
Inside Out
Although all that was slightly reassuring, it faded fast when she ordered up full body MRI’s, CTs, X-rays, more blood work, and ultrasounds (including on his balls to check out a hydrocele he got from falling on a step stool the day before). I knew why. If almost nothing is “wrong” with him on the outside, there’s gotta be something inside. After pointing out all Liam’s features that are common in chromosomally enhanced X-Men, she elaborated on what she was hoping not to find. Trisomy 13 is known to cause severe defects, disorders, and conditions including undeveloped and missing bones and organs. (Think back to the “incompatible with life” label.)
Surgeon for Hire- Must Have Experience!
Liam was a rock star throughout all the hospital visits and crazy tests. A week or so later the results were in. Bad news: a scan found a congenital diaphragmatic hernia. Liam needed to be seen by a surgeon immediately. I was warned the hernia likely is causing other damage as well. Liam also has a few ribs that are underdeveloped. Good news: He has all necessary parts with nothing extra and nothing missing (besides the previously known heart defects with missing parts).
Go figure Liam had a rare Congenital Diaphragmatic Hernia, called a Morgagni hernia. Less than 2% of CDHs are Morgagni and so not many surgeons have experience. (Wonderful, right)?
We got clearance to push surgery back one month, to August, and make a pre-surgery summer bucket list. Maybe you’re wondering, how we could push back something so urgent. Remember the “anomaly amongst the rare” comment? That seems to hold up. Scans showed that Liam’s guts were quite comfortably organized in his chest. No evidence of strangulation or necrosis. It’s almost like, Liam’s chest compensated for the extra contents and made room while his little body was being formed, leaving only his lungs with minimal damage.
Surgery Day
The drive to Ann Arbor from Lansing was quick and the first time in history, without a traffic backup. Check-in was simple but the wait was difficult. I had recovered from a scary bout with vertigo a few weeks before and thankfully, I had leftover valium. Without it, I swear, I would have unzipped my skin and jumped out a window.
He rolled into the O.R. without me this time
Liam’s status and the surgeon’s progress was being updated on the text pager they supplied. I made it to the cafeteria but midway through pushing food around my tray, I received a medical text stating surgery was paused and the surgeon is waiting for me on the phone. I needed to get back to the waiting room.
I hauled ass through the cafeteria, lobby, and clawed at elevators, leaving all my belongings behind. Snatching the phone and asked (okay, kinda yelled), “WHAT’S WRONG?” He started with “he’s perfect. I’m actually done, but I was looking around…” The surgeon found 2 more hernias, both inguinal, and offered to immediately fix them and the hydrocele. He warned if I waited, it’d cost thousands more for separate procedures and likely with a different surgeon. With my verbal permission, he fixed my baby (and saved me a ton of money).
A Badge for Each Adventure
Time rolled on and the diagnoses were rolling in. Just before our Disney trip, Liam began seeing a speech pathologist. She confirmed my deductions and then some. Liam was diagnosed with speech apraxia and expressive and receptive language delay. He saw an occupational therapist and was diagnosed with dyspraxia and sensory processing disorder, which drastically affects all 8 senses.
I was torn between the excitement of having answers to move forward with solutions and aching for the days when he was brand new and perfectly put together and I was f*cking clueless. Nevertheless, things were less gray. I had black and white explanations for everything I had been taking notes on. After learning how all these diagnoses manifest in Liam, I was confident and comfortable with him finally getting his official autism badge.
The evaluation team of specialists agreed with all prior diagnoses. Autism spectrum disorder, global developmental delay, social pragmatic communication disorder, oral apraxia, and dysarthria were all added to the list of adventures. Despite typically hating surprises, I’m SO thankful he was my surprise and glad events unfolding the way they did (mostly because I already proved I can handle that.)
Fast Forward
We are on the path to self-awareness, social awareness, self-regulation, and physical and emotional health. Liam made huge progress spring/summer 2017 with a HUGE standout performance, Riding a Bike with Dyspraxia. I still think back to the beginning; surprise pregnancy, miscarriage, high risk, and the unfolding of life. I try not to hang out there long. Although it brings me great perspective, I still feel those emotions as strong as though it were all brand new again.
Your turn! Let me know your thoughts in the comments.