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Patient Story: Research Efforts to Combat Pediatric Crohn's Disease

The Future of IBD Treatment | Children's Healthcare of Atlanta

The story of Gabriel "Tripp" Wilson embodies the importance of Precision Medicine provided by CIAG. At the age of 4 years old, Tripp began developing painful perianal abscesses and fistulas in late 2010. He was initially treated with surgical approaches but was referred to see a Pediatric Gastroenterologist when they continued to re-occur. Tripp underwent a colonoscopy, which showed inflammation along his GI tract, and he was subsequently diagnosed with Crohn's Disease in 2011. He was started on steroids to decrease the inflammation and 6-mercaptopurine (6-MP), a medication that suppresses the immune system. Unfortunately, 6-MP was not sufficient to control his IBD, and he was then seen at our Pediatric Inflammatory Bowel Disease Clinic for a second opinion. Tripp was started on a relatively novel class of medication for IBD in children called anti-tumor necrosis factor (anti-TNF). Initially, he exhibited some therapeutic response, but this was short-lived. Over time, his IBD failed to respond to any of the existing treatments available, and he had to undergo multiple surgeries to remove inflamed sections of his colon. With such refractory disease, he underwent additional genetic and immune testing to determine whether a unique immune pathway that was not responsive to standard IBD treatment could be implicated. Indeed, by sequencing his DNA, a pathogenic mutation was detected in the NCF4 gene that plays an essential function in his white blood cells (WBCs) by enabling them to kill bacteria. Standard immune tests failed to detect any defect, but more specific testing of his WBCs in a laboratory setting revealed an inability to kill bacteria. His IBD's genetic and molecular basis was elucidated to be from an underlying global defect with his immune system known as a chronic granulomatous disease (CGD). 

Patients with CGD can develop inflammation in their kidneys lungs, and up to 40% develop CD-like intestinal inflammation that is refractory to standard IBD treatments. Moreover, the successful treatment and cure of CGD have been demonstrated with hematopoietic stem cell transplant (HSCT). In collaboration with our Aflac Bone Marrow Transplant team, Tripp underwent successful HSCT in 2018. After that, his intestinal inflammation resolved along with the perianal abscesses and fistulas, and more, importantly he began to gain weight and grow. Precision Medicine through CIAG identified a unique genetic mutation and immune dysfunction in Tripp, which helped provide the most appropriate treatment. Now his IBD continues to be in remission, and he continues to live a life free of any anti-inflammatory or immunosuppressive medications.

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