James & Sam’s Story: ‘The Survivor, the Hero and the Angel’ ~ Trifunctional Protein Deficiency
The differences were evident beginning January 12, 1999 when James was born. He was my second child. Everything went well with the pregnancy, and I was healthy, so I never imagined the journey that lay before us. James was jaundiced. No big deal we thought, until we were sent straight to a special pediatric hospital. My husband, Jim, and I walked the halls of Children’s Hospital of Philadelphia (CHOP) in disbelief. We met super intelligent people, all who new about our 4-day-old son, and called him by name, “Sweet Baby James.” Test after test…hour after hour.”Rule outs” came from a long list of horrible could-be liver diseases.
James was diagnosed with biliary atresia, a condition that is a result of the malformation of the ducts that carry bile from the liver to the gall bladder. At the age of three weeks, James underwent a surgery to “correct” his condition by connecting a portion of his small intestine directly to his liver that, in theory, would alleviate his “plumbing” issues. (The operation is called a Kasai).
From February to June 1999, James received a lot of medical attention. James got an NG tube for nutrition due to failure to thrive, along with follow-up gastro visits for his liver. We watched his yellow color and monitored his sucking. We held his tiny arms for blood “sticks” and learned about hepatic function, liver panel, and bilirubin. Progress was only adequate.
At the end of July 1999, James underwent a hernia operation, and following, he lost the vast majority of his muscle control. He couldn’t lift his head. He couldn’t suck his bottle. He couldn’t grasp his hands and feet. The medical staff was confused because this hypotonia was not consistent with his “liver-related” issues.
As a result of not bouncing back like he should from the hernia repair, and with elevated liver numbers, the following week, James underwent liver exploratory surgery. The result, the doctors informed us, was that James’ liver was severely scarred and a transplant was imminent. Why hadn’t the Kasai worked? James had no reserve and after a second dose of morphine, he suffered respiratory failure. The feeling of powerlessness overwhelmed me as I watched the medical staff revive my son. There lay my infant boy, limp in the nurse’s arms and all I could do was pray. I hoped that God was with him to give him the strength to stay with us. I hoped that it WAS God’s will. I hoped that James would survive. James survived! Thank the Lord!
Our life of normalcy turned to that of hospital visits, tests, learning medical terminology, and worry beyond compare. We watched our son daily. We learned all his normal behaviors and could sense any dangers. We became pros at placing tubes, drawing meds, working machines. We became night owls…listening and distinguishing the nighttime bells. Our lives had changed.
In October 1999, James was having a bath with his sister, Gabrielle, then 3½ years old. I took James out, changed him, “hooked him up” to his feeding pump and placed him in his swing. (He loved his swing). About 20 minutes later, I heard a cry that seemed odd. I went to James, and grabbed him out of the swing. He looked like he was choking, so I pulled the NG tube from his nose. His breathing didn’t seem right, and as I yelled for my husband, Jim, James’ lips turned purple. James stopped breathing! I laid him on the bed and screamed out “Call 911.” Jim gave the info to the paramedics on the phone. I started giving mouth to mouth. I panicked, but could remember, “Tilt the head, back. Give quick short breaths.” But this was my son, my baby. “My God, please don’t let him die,” I thought.
After half a minute, James started crying, I knew this was a good thing. The rescue squad arrived and took over assessing James, and giving him oxygen. James was transported to CHOP.
This was the first of many hospital transports over the next two years. We became quite attuned to James’ signals. We knew when he was happy. We knew when he was hot (with fever) and not so hot. And we knew when he had to go (to CHOP). And go quickly!
After many more tests, James was diagnosed with a fairly rare metabolic condition. Initially it was thought to be LCHAD, but now we know it is specifically, Tri-functional Protein Deficiency (TFP). It is a Fatty Oxidation Disorder, and gone undetected can cause liver, heart, retinal and muscular damage…even death. Treated with glucose and special diets, the child can live a healthy life. Many states are trying to expand Newborn Screening tests. And many families are trying to spread the word of awareness, since some pediatric doctors are not even knowledgeable about these disorders. And some, although aware, are not familiar with treatments.
James was placed on the liver transplant list as a Status One. We stayed in the PICU (pediatric ICU) of CHOP for eight weeks. We waited for James to come off the ventilator. We waited for him to be fever-free. We waited and listened to all the helicopters coming in the night. We waited for a liver! We prayed it would come. We prayed that someone’s misfortune would be our son’s blessing!
December 29, 1999. The day had come! Jim and I left James’ sleepy head to grab a bite in the hospital cafeteria. It was about 12 noon when our nurse came to find us. “James will be getting a liver. They’ve got one. It will be today. We’ve got a lot to do. Yeah!!!”
Oh how the chills ran up our spines.and smiles to our faces. Our miracle will happen. James will be fixed! He will be well again. We raced to the room and everyone prepared James. More blood tests, paperwork, and preparing meds. The nurses worked like a well-tuned machine. Everything was in order.
It was about 11:00 pm when everything was getting underway. The red cooler arrived. The delivery man said “God bless you.” The doctor said”…All looks good. Get rest. It will be a long night.” How could we sleep?! I hugged my baby and gave him kisses. “Mommy loves you. Mommy loves you,” I whispered. “You fight in there. You be strong.” The operating room door shut. And I latched onto Jim and cried in his arms. Will I ever see my baby again? Will he make it? What if there’s a complication? What if…?
The waiting room was cold. We sat in the hard light blue cushioned chairs for hours. Soda and snacks kept us awake. The silence, kept us asleep.in our fears, in our hopes. We waited for the updates. All was going well. And finally about 5:30 am, the doctor came before us. James made it! The new liver was in! “This is it. It’s all over,” I thought. He made it. He’s a survivor!
I surely was wrong that it was over. That day we held our baby’s hand and must have sung, “You are my sunshine” about 300,000 times. He looked miserable like he was beaten. He was puffy. He was weak. He had tubes and more tubes. His bandages covered his torso. But he had his new liver! Right?
Early evening arrived, and with the doctor’s rounds came the blow. “The graft is not functioning,” he said. He repeated it. What the hell does that mean? I couldn’t believe what I was hearing. I didn’t understand. What it meant was that the liver was not working. The liver somehow didn’t survive! Maybe this and maybe that…but what it meant was that James was dying. After all the waiting.after the fight.after all those hours…”The graft is not working,” haunted my thoughts. I’ve got to be dreaming.
We weren’t dreaming! Reality was all but too true. James got placed back on the transplant list again ~ Priority in the country. And we waited, but this time only for hours. By the grace of God, a liver was born. James underwent his second transplant less than 36 hrs from his first. This time it was not an exact blood type match. Will it work? Will he live? Will he survive another surgery?
James survived. And as we slept most of New Year’s Day, we silently thought Happy New Millennium!
One week later, James was in severe rejection, and again underwent surgery. The surgeon needed to be sure the issue wasn’t clogged connections. They were fine. James’ body just was rejecting this foreign object. This foreign object that he needed to live!
On Jan 12, James turned a year old in the hospital bed of the PICU. We celebrated with balloons.with a cake.with a sedated child.and with an unlit candle that brought many tears. James was in pain. Our sweet Baby James lay silent because that was all we could do for him. Make him sedate. And pray. We weren’t sure if James would make it. And if he did, did his brain suffer damage? Would he be our James? The doctors and nurses were our therapy. God was our pillar of strength.and definitely watching us all.
James pulled through again. He was our survivor. Yet, at the end of February, James got a virus, “It’s EBV (Epstein-Barr Virus).like mono. With tiders in the “millions,” they said. The quantitative number didn’t mean much except that it was really bad. “It will make him really weak. It’s like a lymphoma sort of thing.” We were beyond crazy. The tears and horror filled my head for days. I was frozen in time. I was still waiting for Thanksgiving. How could this be? He was supposed to just need a new liver! Right? What could be done? Something has got to be done! I wasn’t ready to lose my son. And James…he wasn’t done fighting.
“We could always get another liver, but we can’t get another body,” the surgeon said. And so we agreed to give up the liver. All anti-rejection drugs were stopped. We prayed for healing. We prayed his body would fight the virus and not the new liver. We waited. We watched. We prayed some more.
During James’ fight with “OKT3” a horrible drug that compromised James’ body, and breathing and life…my body ached with pain. Mentally and physically I was exhausted…I was having contractions…I was having another baby!
That’s right, Samuel, our third child was born, February 26, 2000. He lived in his stroller his first couple of months of life. He reveled at the beeps and lights and hissing of oxygen. He was a baby. He was also the recipient of a defective gene. Samuel also had TFP! I would take turns holding each of my boys.
Singing lullabies. Changing diapers. Placing NG tubes. Wondering what was next! Wondering what was God’s plan.wondering if we would all come home.wondering and standing still in time. Was it Spring? I had hardly noticed.
From February to June (of 2000), James (and Sam and I) remained at CHOP with a few interim “welcome home” days. James went through more bouts of rejection, horrible drugs, several viruses and thousands of “procedures.” Sam, on the other hand, was a “healthy” baby thanks to James. He had been tested at birth and treated with IV glucose as a precaution. He was in “preventative mode rather than repair mode like James.”
Finally the EBV titers went down. We were on our way home. James was a survivor. James was a hero.
“The first year is the hardest,” I remember everyone saying. They did warn us, and they were right. In a year the most consecutive time spent home was about 12 days! Imagine that. Two weeks then a hospital stay. We learned the ins and outs. We were regulars. We were a family with a chronically ill child. And in spite of all the chaos, our family made it. We stayed strong. We stayed secure and we stayed sane. (Well, almost.)
Then came February 2001. More hospital stays. Samuel had a scheduled admission for his g-tube placement and James followed him due to a routine cold. “He needs some IV glucose,” we thought, “48 hour rule out!” God had another plan. James had cardiac arrest. For 2 hours, we watched the team “treat” the code blue. Hours went by as doctors pumped drugs into James. The doctors prepared us that evening.”…We don’t think Jimmy will make it this admission.” The words struck like daggers to my ears. The shock and the panic consumed our hearts. “He just had a cold,” I remember shouting in tears. The familiar faces were all a blur. Some strange metabolic phenomenon.unknown causes. Unanswered questions. More worry and more prayers. And unbelievably, more miracles! More chances from God! James survived again.
It is now August 2001. And life is changing again. Our family has endured. And James continues to be a rock. The medical regimen has become our life. Hospital visits have become the norm. Tubes and pumps and therapy and oxygen…all just normal routine. James works hard at getting strong. He has good head control now and tries to bear weight on his arms. He can roll and he can babble. He speaks with his eyes and his smile will brighten any room. He has therapy daily and even takes swimming lessons. He is very proud of his accomplishments. His road ahead is long, but thanks to the miracle of organ donation he has a road to travel. Thanks to genetic research he can be safe for now. He has a chance for a good life.
And Sam has been saved by James. We are grateful for that. Sam is developmentally fine, but also has a nutrition (g-tube) regimen due to the lack of appetite, the inability to fast, and the lack of experience in chewing. He’s our crazy boy, and will surely be James’ best friend.
And Gabrielle. She is the angel in our story. Our outstanding daughter, Gabrielle, now 6, who is really all…survivor, hero and angel. She has fought through her brothers’ hospitalizations. She has fought through mom and dad whisking away almost weekly. She has fought through holidays, birthdays, vacations and celebrations in the hospital. She has learned about “Level 6” and how sick a child can be. She has been versed in medical apparatus that even some adults haven’t understood. Yet she is a happy wonderful child. She is secure and she loves both her brothers, although silently wishes for more attention. She plays “Barbies,” recites “MaryKate and Ashley” and eats…not through a tube. She is mentally and physically healthy. Sometimes she even teaches us, and calms our fears. She is very deserving. She is an angel!
There is a story to be told of organ donation, genetic tests and special needs families with FOD (Fatty Oxidation Disorders). Not to mention family, trust, parenthood and relationship! If I had the eloquent and thorough words of John Irving, I would write a book, but for now, I seek your writers, your editors. Help raise awareness. Help tell the story of Sweet Baby James…and the survivor, the hero and the angel!
“There is memory almost foreign.
There is fear, now routine.
There is hope.
And there is peace in being home.”
~ MaryAnn Raccosta ~
Dear Friends Old and New and those that I haven’t spoken to in a long time ~The BOOK – The long awaited BOOK is now available on Amazon.com ~ The Survivor, the Hero & the Angel!
Let me know if you like it ~ Better yet, send in a review online to Amazon.com
Love you lots
Wish you peace!