Erin’s Story: Finding Answers After Two Decades
Adult Cholestasis: A 20-Year Journey to Diagnosis
What is your diagnosis? And when were you diagnosed?
I was diagnosed with ABCB4 disease (PFIC Type 3) in April 2025, at age 38. After 20 years of unexplained symptoms, I finally have answers.
Think back to the time before you were diagnosed. What symptoms were you experiencing? How did it affect your life?
My symptoms started when I was just 12-14 years old with a severe virus that left me exhausted and anemic. But doctors never really investigated what was happening. At 19, I took Lamisil for a toenail fungus, which caused liver problems. That same year, I developed shingles and was in a car accident. At 24, I lost my gallbladder due to stones in my bile duct.
But things really escalated between 2022 and 2025. After complications from a myomectomy, I became severely anemic and needed two bags of blood. My GGT levels shot up over 800. I lost weight rapidly – dropping from 136 to 112 pounds over 53 weeks. For months, I underwent procedure after procedure trying to find answers: ERCPs, liver biopsy, MRCP, colonoscopy. No one could tell me what was wrong.
How are things different since your diagnosis?
Everything changed when genetic testing identified a heterozygous ABCB4 mutation – actually the fourth variant ever identified, from a 1999 research paper. There are only 8 other genetic donors registered with this mutation. My local provider diagnosed me based on my clinical presentation and genetic results, even though the genetics company marked it as “unknown significance.” I’m now on 1,500mg of Urso daily, and I’ve seen significant improvement.
I also connected with Dr. Catherine Williamson at Imperial College London – she wrote the original research paper on this mutation. She validated my diagnosis and helped me understand the broader disease associations. I’m now under the care of Dr. Vilarinho at Yale, enrolled in genetic studies and signed up for medical research.
How has your diagnosis/condition affected your family?
Understanding my diagnosis has helped me see patterns in my family that make sense now. My grandmother had a liver transplant at 61 and died at 70. Her mother had 18 pregnancies, and half of those babies didn’t survive infancy. All of my grandmother’s adult siblings had their gallbladders removed as teenagers, and most developed liver cancer. I recently found out I have a second cousin with both liver and kidney transplants.
These patterns suggest a genetic component across multiple generations that we never understood before.
Tell us about your treatment journey.
My disease pattern is progressive flares triggered by viruses. Each flare takes months to years to recover from. I’m concerned about the future based on my family history – so many developed liver cancer. But having Dr. Vilarinho’s expertise and being part of research gives me hope that we’re monitoring things carefully.
Where have you found support?
I’ve done extensive research – I’ve read every scientific article on JSTOR about ABCB4. Knowledge has been powerful for me. I’ve also connected with other patients online and found it validating to see others with similar symptoms asking the same questions I had before diagnosis.
Do you believe your condition is well understood?
Not at all – by either the public or many in the medical community. Even my local GI doctor, who is wonderful, now has a whole folder of ABCB4 research articles because this was so new to him. The validation aspect of finally being diagnosed was huge. After years of procedures with no answers, someone finally believed me and could explain what was happening.
What’s one thing you would say to an adult who received a similar diagnosis today?
Don’t give up on getting answers, even when genetic reports say “unknown significance.” If your symptoms match what diagnosed patients experience, keep advocating for yourself. And find doctors who will take the time to really understand – my local GI and Dr. Vilarinho have made all the difference by being willing to learn alongside me.
Erin lives in Georgia with her husband Jay, where she works as a project coordinator for a nonprofit and co-owns a real estate photography business. She is passionate about raising awareness for adult cholestasis and helping others navigate the complexities of genetic testing and diagnosis.