Austin’s Journey
The story began like many others – the news of our pregnancy brought on a mix of exhilaration and anxiety to us as first-time parents. The angst spiked dramatically at the beginning of the third trimester when some non-standard items were identified– the baby was underweight, was having questionable Nonstress Test responses, and an MRI showed that a portion of his brain called the Corpus Collosum was thinner than average. Despite this, the potential impacts of these things were not known. In drastic cases, this could result in seizures and developmental delays – but there were also instances where babies were born and functioned normally. We had to focus on what we could control – the doctor monitored me very closely and we worked to prepare our home for the baby’s arrival.
Austin was born the morning of August 14, 2020 at 36 weeks and 4 days, what they term “late pre-term.” Scott and I were in awe of our baby boy. We could not believe he was here and that he was so perfect. He was sent to the NICU, and we were at his bedside every three hours for changing and feeding. We cherished the opportunity to touch him and together we discovered how breastfeeding worked, and how to properly bathe and change him. He initially had trouble with jaundice, a high respiratory rate, two early bouts with apnea, some sugar and temperature regulation, and later had trouble regaining weight. Given the prenatal findings, doctors also did another MRI and EEG – none of these tests showed any conclusive issues, and his initial struggles were determined to be related to his prematurity. We were referred to the state’s Birth-to-Three program and a pediatric neurologist to ensure that he was being watched closely. We were finally sent home with our boy after 22 days.
We were ecstatic to have him home, but he was still working very hard to stay warm. We kept him bundled and checked his temperature regularly. We fed him on a strict schedule, working to bulk him up so he could hold his temperature more consistently. Once he started getting a bit bigger, he no longer had issues keeping his temperature. We played “Eye of the Tiger” during Tummy Time and loved to watch him constantly stretch his arms and hands wide, as if he’d just awoken from a winter hibernation. He had a ton of long blond hair and very long, soft fingers. He enjoyed the lullabies I sang to him, his favorite being “Buckaroo,” which was a song passed down from my Grandfather to my mother, and from my mother to me (and now me to Austin). On a weekly basis we went to an outpatient NICU program, run by some staff with whom we’d become very close. They cheered with us as Austin had surpassed a weight milestone after three weeks at home. I was so thrilled that he was finally up to 8 lbs, I remember texting my girlfriends on the way out of the hospital with tears in my eyes - finally feeling the weight of residual concern that there could be a significant underlying issue lift from my shoulders.
The next morning was a check-up with his pediatrician which would include his first round of vaccinations. Austin showed off his tummy-time and did some cooing for the doctor, and we scheduled our next follow-up. The nurse came in to administer the vaccinations into both his thighs. He let out a wail and proceeded to sound unhappy – grunting and grumbling. Scott worked to put him back in the car seat and it was then that I noticed that the coloring had drained from his face. He continued to grunt as his face turned grey – I yelled to get him out of the car seat while running to the hallway screaming for the doctor. The doctor sprinted in, by this time our baby boy was blue. I couldn’t believe what was happening. The doctor’s office called 911, and she started to give Austin mouth-to-mouth. Paramedics filled the office and hallway while we looked on in horror, our bodies trembling in disbelief. One of the EMTs grabbed me by the shoulders and said, “we’re going to do everything we can.”
Austin was stabilized, and we were taken to a nearby hospital and then later transferred to larger Pediatric hospital where Austin would undergo a series of tests to determine the underlying cause of this episode. I rode beside my son in the back of the ambulance, struck by how small he was in the gurney. Because of COVID rules, Scott and I were not able to both be in the hospital, and I felt very alone. Austin was hooked onto the monitors we’d come to know so well during our time in the NICU. I held, fed, and sang to him as usual that night, fighting back the anxiety about what the tests would show.
The next morning, doctors across several specialties came to meet Austin and run their independent analyses, trying to deduce an underlying diagnosis. We met Neurologists, Cardiologists, Pulmonologists, Ophthalmologists, Geneticists, Infectious Disease doctors and probably some more we are forgetting. Given the fact that these doctors would need a lot of family background, the hospital permitted Scott to join Austin and me in our room. The neurology department had ordered another EEG, and the technician worked to place the numerous probes on top of his beautiful hair. The neurologist was examining Austin simultaneously, when I noticed that his oxygen saturation was dropping on the monitor. He thrashed his head from left to right, and the doctor proclaimed, “He’s having a seizure!” I ran to the hallway and made a desperate cry for the staff – his oxygen levels now even lower. People funneled into the room in droves, as I heard the intercom call a Code Red. We again stood in horror as they pulled an oxygen bag off the wall and worked on our son.
He was again able to be stabilized, Austin was moved to the Pediatric Intensive Care Unit (PICU) to be more closely monitored. For the next few hours, Scott and I sat numbly on a plastic green couch in the corner of his room while staff filed in and out of the room. The nurses began to work to get an IV into him, which had been proving difficult given his small veins, and the amount of poking and prodding he’d endured in the last 24 hours. His head began to thrash left and right once again – he was having another episode. His oxygen level dropped, and I again sprinted out into the hallway to gather staff. Though he was once again stabilized, the doctors decided to intubate to ensure his oxygen intake and put in a central line, which provided a port directly near his heart to administer medication and draw bloodwork.
It was around this time that two concurrent paths emerged – the first was the broader analyses occurring across the different specialties to determine the underlying diagnosis. The running assumption was that he was likely having seizures, but the EEGs were not able to conclusively confirm this, and instead they acknowledged a “general slowness” in his brain, as well as some structural abnormalities and “seizure-like episodes.” Frankly this prompted more questions than answers. His bloodwork ruled out Infection Disease, and the Cardiologists found nothing abnormal with his heart functions. The Geneticist ordered bloodwork, and we were told that the results would not come for a few weeks.
The second path was that of Austin’s day-to-day existence. Our boy had undergone so much in those two days, he was sedated and swollen, barely recognizable from the vibrant baby we’d known just the morning before. Over the next 3 weeks, he fought fiercely to regain his strength. He was extubated, but after his airways swelled, needed to be reintubated in a very scary emergency procedure. After he was finally re-extubated successfully, he worked through a collapsed lung and slowly gained his respiratory strength back through a series of varying tubes and gizmos. We were finally able to hold him again after he’d been in the hospital for two weeks. He was encumbered with many tubes and wires, yet I was positive that he felt immediate comfort being in my arms. During these stages, he was fed through tubes but as his strength came back, he was able to eat orally once again – the staff was shocked when he was able to breastfeed again. I was so grateful to continue that connection with him.
During this time, Scott and I were again separated due to COVID 19 rules, and took turns going back and forth from the Ronald McDonald House across the street from the hospital. Our only solace came in the two minutes we clung to each other in the hospital’s lobby as we switched places. We were exhausted and lonely, working fervently to take notes and compare summaries after each interaction with the doctor. Whoever was in the hospital would Facetime the other to ensure we both heard each update immediately. We participated in “rounds” with the staff each morning and night, asking questions and making sure they knew all the information we knew. We felt an immense responsibility to advocate for our boy, as we found that we were often the ones with the best information.
We were given his diagnosis on October 23, 2020. Austin had Combined D2/L2 Hydroxyglutaric Aciduria, a mutation of the SLC25A1 gene. In layman’s terms, this mitochondrial neurometabolic disease affects the cell’s transportation of citrate, and when this is affected, the citrate builds up and ultimately kills the cell. Symptoms include severe seizures and neurological abnormalities, weak muscle tone, and breathing problems. The condition was incredibly rare, as there were only 12-20 reported cases worldwide. The disease was very severe – and resulted in death by early childhood.
To say we were distraught is an understatement – there are no words to describe how immeasurably broken this news left us. Once he received this diagnosis, the goal of the hospital staff was to get us in a position where we could safely be at home. He was doing much better from a day-to-day standpoint, now eating and breathing on his own, but the disease was degenerative, and the assumption was that he may need assistance with these things in the future. At this point, we collectively determined that his episodes seemed to coincide with instances of irritation or pain – something was triggered neurologically that stopped his drive to breathe. We connected with in-home pediatric palliative/hospice care, and worked to get the appropriate monitors, feeding tubes and oxygen support available in our home.
Scott and I were also forced to make determinations that no parent should have to make – what would we do if/when Austin had an acute episode at home? We knew that our goal was for him to feel no more pain, and for the rest of his existence to be one surrounded by comfort and love. Given this, we discussed with the palliative care doctor who helped us work through a Do-Not-Resuscitate (“DNR”) order that would align with this goal. The palliative care staff clarified that we could always change our mind if the time came (this is different in pediatric DNRs than for adults). Scott and I agreed that he would not be intubated again, and that chest compressions could break ribs and thus were out of the question as well. They gave us a small orange bracelet for him to wear to ensure that emergency staff acted in line with our wishes for him.
We finally took him home in early November. We spent three weeks cuddling and loving on him. His grandparents and uncle came to spend time with us, and he met some of our close friends. He liked his rocking swing seat, and still calmed immediately at the sound of the “Buckaroo” lullaby. He was hooked up to a Pulse Oximeter, the alarm for which would go off intermittently due to high heart rate. Scott and I became fluent in understanding our boy’s cues and were focused on keeping him as calm as possible. This, of course, only added to the stress on our side – sometimes babies just cry! But given his episodes were prompted by discomfort, we were on high alert to ensure that he was as comfortable as possible. We administered medicine within his feeds, which meant that he needed to be fed consistently every three hours. We had members of the hospice staff coming in weekly to check vitals and review overall status, and they were available anytime on call. It was high-intensity, stressful parenting, but we did fall into somewhat of a rhythm during that time.
On November 24, 2020, we were putting Austin to bed when I noticed some familiar grunting. I pulled him out of his bassinet as his oxygen monitor started to drop and the alarm began to sound. I worked to manually stimulate his breathing by lightly tapping on his chest, but the numbers kept dropping. Scott ran to grab some of the medication we’d been given, but it was too late, he was having an episode. As the color began to drain from his face, Scott and I found each other’s eyes – we decided to call 911. I laid him across the bed and began to administer rescue breaths, while our parents who had gone to bed an hour so before, filed into the hallway. Scott spoke to the 911 dispatcher on speakerphone while I continued the rescue breaths. My dad stood at the base of the stairway staring out the front door, audibly willing the ambulance to “hurry up, c’mon c’mon get here!”
Soon, paramedics flooded the room and took over with Austin, at this time his oxygen levels had come back up. I pointed out his orange DNR bracelet and screamed through tears that he had a terminal disease. “Rescue breaths only, no intubation, no chest compressions!” I stood in the corner of our bedroom repeating the sentence over and over. When he was momentarily stabilized, one of the EMTs approached Scott and I and told us that we’d reached a decision point, and we needed to decide whether we were going to the hospital. This is something we hadn’t yet contemplated, and for the second time that night, Scott and I searched each other’s eyes for an answer. As if reading our thoughts, the EMT suggested “I don’t think you want anything to happen here. You want to be in a hospital.”
I knew then that we were going to lose him that night. We agreed, and the three of us were guided to the ambulance. As we climbed into the back of the ambulance, the same EMT placed his hand on my shoulder and said, “It’s near the end now.”
Austin died in my arms later that evening, while Scott held us both. I sang “Buckaroo” softly as I felt him drift away.