Amanda Baerwaldt first knew something was wrong when she began experiencing stomach virus symptoms. But unlike a stomach virus, her symptoms kept returning every two to six weeks. In an attempt to feel better, she changed her diet and became more physically active, but she kept experiencing the debilitating symptoms.
A year after her attacks began, she found herself in the ER with a diagnosis of pancreatitis.
“That first ER trip, it was assumed I had OD'd on something. I was yelled at and scoffed at and humiliated,” she recalled. “I remember being terrified, in the most severe pain and not being taken seriously. The entire mood changed when my labs came back indicating pancreatitis.”
In the ER, Amanda’s doctor assured her the episode of pancreatitis she experienced wouldn’t happen again. However, Amanda found herself again experiencing the familiar attacks of severe pain, nausea and vomiting among other symptoms.
“It kept happening with no known reason. I didn't have any of the risk factors typically associated with pancreatitis,” she said.
Searching for answers, Amanda sought the advice of several specialists and integrative medicine practitioners who subjected her to lengthy and unnecessary testing.
“One specialist continued to run test after test for rare disorders,” she explained. “This took months, and meanwhile I was continuing to have attacks and lose weight and strength."
Fed up with her treatment options and outcomes, Amanda decided to research her condition and identify physicians who could diagnose and appropriately treat her.
“I found Dr. Jeffrey Easler at IU Health in Indianapolis,” she said. “He was kind and thorough. I have stayed with this office since. They have been incredibly supportive and make sure I am being cared for properly.” After finding the right healthcare team, Amanda was diagnosed with recurrent acute and chronic pancreatitis, sphincter of Oddi dysfunction, and CFTR-related pancreatitis, a genetic disease.
Testing with Ariel
Amanda had a sphincterotomy, which helped ease her acute attacks, but she was still suffering from chronic pancreatitis symptoms. To get to the bottom of the cause of her symptoms and provide more targeted treatment, Dr. Easler suggested Amanda be evaluated with Ariel’s PancreasDx® test.
PancreasDx® is a next-generation sequencing panel of 12 genes and 2 regions of interest related to susceptibility to the different subtypes of chronic pancreatitis. The test incorporates information from next-generation genetic sequencing, patient health records and environmental exposures to provide a personalized guide for patient management.
A simple swab of Amanda’s cheek gave her care team the insights needed to improve her care.
“My doctors had a better understanding of why I was as sick as I was. And knowing that there were genetic components made getting a TPIAT [total pancreatectomy with islet autotransplantation] faster and easier,” she said.
Amanda says having the reports from PancreasDx® has helped her mental health.
“I carried around guilt for years,” she said. “I felt I was to blame for my disease because I didn't take care of my body for years. I still sometimes blame myself, but I can look back at my reports and see that this was nothing I did. And that is huge in my mental health — which is often a struggle for patients with varying forms of pancreatitis.”
Amanda recently had a TPIAT and is recovering. She’s now off routine pain medications and she doesn’t need a feeding tube or anti-vomiting medications
“I have healed quite well and quickly. Life is different as I navigate as a diabetic, which is going quite well, and figuring out the right dosage of Creon to make up for my lack of pancreatic enzymes,” she said.
Amanda refers to a total pancreatectomy with islet transplantation (TPIAT), a surgical procedure that can provide significant pain relief for eligible patients. TPIAT is only appropriate for specific patients, and patients being considered for TPIAT should be evaluated in expert centers by a multidisciplinary team. A positive genetic test result is not an indication for TPIAT. In some cases genetic testing may identify a variant associated with an aggressive disease course, and therefore an increased risk for disease progression.