At first, I didn’t want to read about other families’ experiences because their stories were way too scary. Until recently I couldn’t write this blog because writing means processing and I was not ready to do that yet. Sometimes, to survive, you have to keep your head down and just focus on the next step. Looking at the big picture can be overwhelming so you just keep the blinders on and move forward. Sixteen months later I finally feel like I can reflect on what we’ve been through and how we’ve coped. I’m ready now to look forward and make plans. I’ve learned some valuable lessons and have a completely different perspective on life now. And while I’d give my right arm (or part of my liver) for my son to be safe and healthy, I acknowledge that this experience has made me a more thoughtful person, a stronger partner, and a better mother.
We are getting ready to head to Boston tomorrow for a pre-transplant evaluation for our 16 month old son, Porter. It’s taken a lot to get us to this point; where a liver transplant seems like a good idea. Better than the alternative, at least, which is to keep doing what we’ve been doing for the past 16 months.
For me, it all started in August 2015. That’s when we had our 20 week anatomy scan ultrasound for Porter. At that visit we were told that our baby was a little on the small side and had a biomarker called “echogenic bowel.” It could mean nothing or it could mean something bad so I was referred to specialists at UVM Medical Center who I saw weekly for ultrasounds and biophysical profiles of the baby. Despite the findings of those weekly visits being mostly unremarkable I continued to make that trek, it’s about 45 minutes from home and more than enough time for my kidneys to process my morning cup of tea, every Wednesday.
Finally, on December 2nd, I graduated and was allowed to return to the midwifery service I much preferred. By then I had past the 36 week mark and it was deemed safe for me to have the baby at the much smaller Porter Medical Center in Middlebury. I was scheduled to see my midwife on Thursday afternoon, but our little guy had other plans. After an extraordinarily brief labor (think less than 45 minutes) Porter Wheeler Johnstone was born just outside of the Porter Medical Center Emergency Department in the front seat of our new car. Luckily, an ER nurse came out with Chris when he went to get a wheelchair. She “caught” him. Our two year old daughter Katherine (Katie) was in the back seat. You can imagine her surprise when the nurse lifted Porter into my arms. She exclaimed: “A Baby!!” I just hope she’s not too disappointed when she realizes that most babies aren’t delivered by “drive-thru.”
Important note: Porter was NOT named after Porter Medical Center. We chose the name because it is Chris’ maternal grandfather’s surname.
Porter was 6 lbs, 5 oz at birth. Almost a full pound heavier than the previous day’s ultrasound estimate. A perfectly healthy, strong baby.
Fast forward 9 days. Saturday December 12, 2015. It’s the wee hours of the morning and Porter is very fussy. He won’t nurse. Suddenly, he vomits. All I can think is “new born babies don’t throw up. Something is wrong.” Finally, I send Chris into the other room so that at least one of us can get some sleep. But it’s no use. Porter is screaming and neither of us knows what to do. After about an hour he settles back to sleep.
We called our doctor’s office who directed us to take Porter to a Saturday morning clinic. From there we were sent back to the birthing center for lactation support. Everyone seemed to think that he just needed help nursing. But that was weird, because he’d been doing it just fine up until then and I didn’t have any trouble nursing Katie. After a few hours in the birthing center we were sent to the Emergency Department so that they could start I.V. fluids, draw blood and collect urine to check for infection. We were then taken by ambulance to UVM Medical Center where Porter was admitted with “feeding difficulties.” We arrived on the pediatric floor at 9:30 pm.
At this point, Porter had been sleeping all day and not eating. It didn’t take long for the medical team to realize that Porter was not “perking up” the way they expected he would with the IV fluids. They decided to investigate further and around midnight sent more blood and spinal fluid off to the lab. They also put in a catheter to collect his urine and started IV antibiotics. They were fairly confident that he had an infection.
By morning there was no improvement. Porter’s vitals were stable and within normal range but he was lethargic. He would not nurse or take a bottle. The medical team decided to take more spinal fluid. It was hard to watch the first time. Imagine watching someone stick a needle into your new baby’s spinal column. The second time was worse. He didn’t even flinch. Something was really wrong and as far as I could tell nobody had a clue what it was. I was terrified that he would die before we could figure it out.
More blood tests were ordered and I distinctly remember listening to the doctor and the IV nurses in the hallway trying to figure out the minimum amount of blood they needed for each test and the doctor saying “No, I need an ammonia.” Blood was drawn and within the hour we had our answer. Porter’s blood ammonia level was 318. Normal for a baby is <60.
Enter Dr. Burke and our PICU team. Porter was transferred to the pediatric intensive care unit where doctor’s put in a central line and administered the drug Ammonul, a nitrogen scavenger, that pulled the harmful ammonia out of Porter’s blood. In less than 24 hours Porter’s ammonia was in a safe range.
We spent the next two weeks learning about Porter’s diagnosis: Ornithine Transcarbamylase Deficiency (OTC). OTC is one of a group of metabolic disorders called Urea Cycle Defects (UCD’s). When protein is broken down in our bodies, some nitrogen containing ammonia is created. This ammonia is usually converted to urea so that it can be excreted in our urine. A person with a UCD is either missing or deficient in one of the enzymes that make the urea cycle work. Instead of converting ammonia into urea, the ammonia builds up in the blood. Ammonia is a neurotoxin and high blood ammonia (hyperammonemia) can lead to brain swelling, coma, and death.
UCD’s are managed with nitrogen scavenger medications, amino acid supplements, specialized formulas, and a low protein diet. Now, “low protein diet” is sort of misleading. Porter cannot eat meat, eggs, seafood, dairy, nuts, seeds, or legumes. That’s more like a no food diet. He does get plenty of protein but most of it comes from his metabolic formula. Older children and adults with UCD’s generally eat relatively small portions of fruits and vegetables and candy. This news was especially difficult for me because I really like food. Not only was I disappointed but I also found that Porter’s food needs challenged my own relationship with foods. Should we become vegetarians since Porter can’t eat meat? I wrestled with the idea, but if we stop eating all the foods Porter can’t eat we will become extremely malnourished. And uber hangry. Not a good idea.
Porter was discharged on December 23rd. The next four months were challenging but mostly just because we had a two year old and a new baby. While Katie was the easiest baby in the history of the world (my brother told me once that she was the decoy baby and would trick us into having another) Porter had to eat and have medication every three hours. Katie slept through the night at three weeks. Porter did not. We settled into a routine and went to UVMMC for blood work every week at first and then graduated to every other week. It was what the metabolic folks like to call The Honeymoon Period.
By mid-April the honeymoon was over. Within his first year Porter was admitted to the PICU 10 times. In April he got a Broviac catheter which is a tunneled central line inserted directly on a major vein. Porter’s emergency medicine has to be administered through a central venous line. Having the line was good for quick access in an emergency and his weekly labs could be drawn off of it. The down-side to the Broviac is that it was a tube hanging out of his chest (try to keep a baby’s hands away from that), it had to stay dry (bathing was infrequent and super stressful), and, naturally, it was an infection risk.
In May Porter had a gastrostomy tube (g-tube, feeding tube) placed. He hadn’t been eating enough on his own. Between his medication suppressing his appetite and his metabolic formula tasting awful the poor guy just decided he’d had enough. When we don’t get enough calories or enough protein our bodies start to break down our tissues to get what they need. This process is called catabolism and it is one of Porter’s worst enemies. Once the process of catabolism starts it is not easily or quickly reversed. Porter’s ammonia levels go up quickly when he is catabolic. The g-tube gives us more control over how much he consumes. Of course, he likes to keep us on our toes and will frequently toss some of that stuff back up leaving us trying to estimate how much we need to make up for. We’ve decided that once we’re through the barfing stage of Porter’s life we’ll buy all new carpets.
A line infection, a misplaced feeding tube (as in formula in his abdominal cavity and three days of morphine), enough emergency department visits that I lost count, and a year’s worth of middle of the night feedings, we made it to Porter’s first birthday. Somewhere along the way someone said that the first year would be the worst and that things should get easier as his growth slows down a bit and we figure out how to manage him. I fiercely held onto that hope. Just get us to a year and things will be better. Another line infection, and a few more admissions. All along we knew that a liver transplant would cure the his OTC deficiency. I had myself convinced, however, that things would get better. We’d have fewer visits, he’d stabilize, and by the time he turned 10 there would be a curative gene therapy. Goodbye OTC, hello normal life. I am willing to admit that I may have been a bit naive, and I also recognize that I needed to be hopeful. Now I know that what we have been doing is not sustainable. We are physically and emotionally exhausted. We spend our days and nights on high alert and it’s not healthy. Porter is at risk for brain damage every time his ammonia goes up. We’re ready to talk to some transplant teams and learn more about the process. We will head to Boston first and then later in April we will head to Pittsburgh for another opinion.
This is a wonderful way to let people know about your journey. Thanks so much for sharing it.
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