Ezra was 9-years-old when he had his first pancreatitis attack. In this story, his parents recount his journey with pancreatitis, how they learned to advocate for their son, and provide advice for caregivers going through the same situation.
It happened suddenly. Very early one morning, I received a phone call from Ezra’s friend’s mom. Ezra had been sleeping over at their house and had started throwing up. I hurried to pick up my son. His symptoms had not improved as he continued to hold his stomach and throw up all the way home. Once home, he couldn’t even manage to crawl into bed. He just laid on the floor, curled up, holding his stomach, only moving to vomit.
At first, I thought it was just a bad stomach bug, however he was in extreme pain and very fatigued. I soon made an appointment with our pediatrician, Dr. Jennifer Adair.
Ezra was nine years old and too big for me to carry into the doctor’s office. He literally stumbled into the office, and I felt helpless watching him struggle just to move. The doctor quickly identified his pain level as too high for a stomach bug and sent us to the hospital. We still didn’t know what it was or that we were to be quickly introduced to a world we knew nothing about.
Hours later the lab results came in, Ezra’s lipase and amylase numbers were astronomical; 80 times higher than normal levels. Pancreatitis was the diagnosis, and we were admitted into the hospital for treatment. He was given pain management and was hooked up to an IV to hydrate. During this time, we as parents read all we could on the topic of childhood pancreatitis. We learned of new diets and potential causes of childhood pancreatitis. We requested imaging of his pancreas but were told that it wouldn’t show anything except that his pancreas was inflamed and that nothing useful would be gained. We were told that 70% of children only get pancreatitis once and it never returns. We were told his condition could be “idiopathic” or it could have been viral, but there was no way to know for sure. We were told that we didn’t need to worry. Years later, we wish we had been able to get that additional imagery of his pancreas at the time or to have gotten additional blood work. Really, we wanted something, anything more than “idiopathic” to guide us in our recovery, treatment, and prevention. We left the hospital with a nurse’s guidance that “if we see each other again, then we’ll know it is something more serious than a virus”.
Within two months, Ezra went again to the hospital with pancreatitis. It wasn’t going to be a one-time event. It was no longer acute pancreatitis, it was now “idiopathic recurrent acute pancreatitis.”
Sitting in the hospital with a sick child gives parents lots of time to worry, wonder and, in our case, research. We wanted to know what had happened, what was the cause of his pancreatitis. We, as parents, read everything we could on childhood pancreatitis. We were shocked that pancreatic diseases, especially in children, have not received much attention. Eventually, this research would bring us to the Facebook page for Childhood Pancreatitis, to Dr. David Whitcomb’s research, to Mission: Cure, to INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In search for a cuRE) and ultimately to Ariel Precision Medicine.
The Ariel Precision Medicine genetic analysis for pancreatitis offered us a far greater potential understanding of our son’s condition; it tested more genes and for more variants within the genes than the chronic pancreatitis test offered by other labs. The results of Ezra’s test and consultation with the Ariel staff helped us discover Ezra’s hereditary pancreatitis – a complex multi-factorial form of pancreatitis. Prominent among the results was that Ezra is heterozygous for the SPINK1, RS17107315 variant. He also has many lesser variants in other genes, that in isolation don’t cause pancreatitis, but may be associated, specifically CFTR and CEL. Unfortunately, he has enough variants in pancreatic genes that his pancreas just doesn’t function perfectly. Ezra has also struggled with a milk protein allergy with no known medical cause. Although other family members carry the SPINK1 variant, he is the only one to ever have had pancreatitis. In the years since his first flare up, we’ve done some genealogy and discovered a variety of pancreatic conditions in our ancestors and extended family; a great-great-grandmother with pancreatic cancer, some male family members with Type 2 diabetes, and a young cousin with type 1 diabetes. We are still trying to figure out how and if these are connected; and this makes us more grateful that we found Ariel Precision Medicine to help us get the information that we needed to get us started on the journey.
We were also helped along by our pediatrician, Dr. Adair, she referred us to other specialists and followed up to make sure we were getting the right treatments. For other parents and caregivers, please find a good medical team that will support you and listen to you. A good medical team can help you get a “medical and school plan” in place so that you can focus on caring for your child during flare ups. Don’t be afraid to ask questions and advocate for your child. You are your child’s best advocate; your child needs your voice to be their voice.
Even in knowing his diagnosis, and what the future might hold for our child, we have hope. Thank you to the many researchers who are working to find better medical therapeutics and a cure.
We are grateful to the National Pancreas Foundation and Rebecca’s Wish for their ongoing advocacy of pancreatic diseases and their partnership for Camp Hope at Flying Horse Farms. This summer, Ezra attended this camp to help him understand his condition better and be able to share his story with other children that can understand his pain.
After picking up our son from Camp Hope, he declared it to be the “BEST CAMP EVER!” He shares his camp experience below:
“It meant a lot to me, to getting to know other kids with my condition, and that I could relate to. I wished it would have lasted longer. My favorite thing to do at the camp was archery. During the scavenger hunt, everyone came together to help each other complete the challenges. The food was amazing! The staff was so kind and friendly. My counselors were the best! I definitely want to go back again.”
As you can see, Ezra thoroughly enjoyed Camp Hope.
Currently, he is a happy video gamer, top-notch student, and golf-loving teen. We let him manage his pain limitations and always encourage him to live his life. We help him and educators that work with Ezra to stay aware of his need to stay hydrated. This has resulted in a school 504 plan to make sure that needed accommodations are made for his pancreatitis during and in between flares.
This journey has taken us a long way since that first early morning phone call. It isn’t always easy, and we don’t know what might be ahead, however, knowing that others are out there, who are also fighting the battle and seeking cures, is a tremendous support.
