A Decade-long Mystery

Bruce Dimmig, motivated ALF Advocacy Ambassador and volunteer extraordinaire, has lived with the uncertainties of life with a rare liver disease for over a decade and a half now.

Bruce began his liver disease journey in 2011, though he wouldn’t know it until about one year later. At first, he noticed himself becoming extremely fatigued and assumed it was just the 80+ hours a week he worked as a successful architect. It wasn’t until it began affecting his ability to drive that he made an appointment with his doctor, who suggested they perform a sleep study. Bruce was diagnosed with severe sleep apnea, but “what really began my search for answers was the day I woke up with a major bruise on my right shin and no recollection of how it got there,” he said. Immediately returning to his doctor, blood tests showed Bruce’s platelets were extremely low indicating thrombocytopenia, which could be caused by anything from a blood disorder to liver disease, or both.

Understanding the Puzzle

He spent the next year visiting various medical specialists enduring dozens of tests including elastographies and bone marrow and transjugular liver biopsies to determine the cause of his low platelet count. In 2012, doctors found that the pressure in his portal vein was more than three times higher than normal, indicating portal hypertension, a condition typically caused by liver cirrhosis; however, his biopsy only revealed liver fibrosis and he lacked other classic symptoms of cirrhosis such as ascites and jaundice. It was clear Bruce’s liver was the problem, however, no one could determine why. Each test uncovered a new piece of the puzzle, but nothing revealed the full picture – if anything, it became more of a mystery. Bruce said, “It felt like I received every diagnosis from nonalcoholic fatty liver disease to hemochromatosis, but all they could do was monitor and screen every six months. It was frustrating.”

Bruce’s condition continued to worsen and the lack of a diagnosis and treatment, caused him to develop hepatic encephalopathy (HE), a condition causing worsening of brain function in people with advanced liver disease. Bruce remembers, “That was a tough diagnosis. After I was diagnosed with HE, I was advised against ever driving again and last September marked 10 years since I last drove a car. I really miss being able to go where I want to whenever I want.” He diligently continued searching for answers and thankfully, kept detailed records of past medical visits, tests, procedures, etc. Bruce said, “My search for a diagnosis has gone on for so long and I’ve had so many different doctors in so many different places that I have at least ten binders of medical history, clinical notes and lab test results just so I can review and research things on my own, discuss findings and trends with members of my support group or even bring new ideas and theories to my doctor.” His efforts finally paid off in 2022, when Bruce’s hepatologist brought his complex case to a medical conference for peer review. It was there that doctors were finally able to zero in on a potential cause for Bruce’s history of high blood pressure and hepatic portal hypertension. Bruce said, “Finally, in March of 2022, thanks to that peer review, I received a working diagnosis of nonalcoholic steatohepatitis, a progressed form of nonalcoholic fatty liver disease which causes the liver to swell and become inflamed, and nodular regenerative hyperplasia (NRH), a rare liver disease in which normal liver tissue transforms into multiple, small clusters of replicating liver cells. Unfortunately, due to NRH’s complex biostructure and the fact there is little known about the disease, doctors cannot say for sure, and tests are ongoing. It’s a relief to have a diagnosis to work with, but I know there is still a long road ahead of me.”

Giving Back to Move Forward

Bruce became involved with ALF in 2013 when he attended his first Liver Life Walk in Phoenix, AZ. Bruce said, “I wanted to get involved and do something about my condition. I wasn’t just going to sit on the sidelines and let them tell me there was nothing they could do for me.” Bruce has been an avid ALF advocate for the last five years and is a member of several patient advocacy committees and support groups to help raise awareness about rare and autoimmune liver diseases. Bruce said, “Despite everything, I always tell people they are not alone and there is support out there. Don’t give up in your journey and never take no for an answer – you will always be your best advocate.” We couldn’t agree more, Bruce! Thank you for all that you do for other liver patients and for being such an enduring inspiration to us all.

Last month was Rare Disease month and March is Autoimmune Disease Awareness month. If you or someone you know is struggling with a rare or autoimmune liver disease diagnosis, there is reliable and confidential help waiting. ALF’s new Sharing the Journey, an ALF Support Group for Caregivers and Sharing the Journey, an ALF Support Group for Patients serve as places for those affected by liver disease to connect and exchange shared experiences. For more information and resources about rare and autoimmune liver diseases, visit our website or call our national Helpline at 1-800-GO-LIVER (1-800-465-4837).