Diagnosed with PBC in her late thirties, Colleen Colburn discusses how she has learnt to accept and live with this invisible disease and how having a supportive network of medical professionals, family and friends has been crucial in helping her navigate this RARE journey

My journey started six years ago, at the age of 36, when I was hospitalised with high liver tests and extremely low white blood count after a brief viral illness. I remember telling the nurse I felt “itchy” but not like dry skin or hives, more like bugs crawling under my skin. PBCers will understand this. I was exhausted like never before and battling low grade fevers for weeks. I saw oncologists, internists and infectious disease specialists but no one had answers. After the hospital stay, my liver enzymes; ALT (alanine aminotransferase) and AST (aspartate aminotransferase), remained elevated for over six weeks and we began to look into the possibility of primary biliary cholangitis (PBC).

PBC is a rare progressive autoimmune liver disease that causes inflammation and damages the bile ducts in the liver. There is no “cure”, however due to advances in recent medicine there are now treatments that may slow the progression. These medications do not treat symptoms and not everyone responds well to them. Some symptoms include itching (pruritis), fatigue, dry eyes and mouth, or yellowing of the skin. Symptoms do not always correlate with progressive stages and are unique for each case. The cause is unknown, however genetics, environmental and hormonal factors and other autoimmune diseases contribute to it. It is not an “alcoholic” disease that so many think of when hearing the word “liver and disease” together. It is rather an autoimmune disease where your body’s immune system attacks itself.

I was discharged and referred to a rheumatologist. My mother came with me and brought up the possibility of PBC. At this point, I was still battling symptoms. I was diagnosed with a high ANA (antinuclear antibody) blood test pointing to autoimmune disease. My grandmother had courageously fought this disease 20 years ago so there was also family history. I am grateful to my mother for having the courage that day to ask for the test (AMA blood test). It is something I had on my mind but did not want to say out of fear of the unknown. (Hint: Stay off the search engines. They don’t shed a positive light on PBC). I watched my grandmother go through two liver transplants. Would that happen to me? So often, I wish I could talk to her. What were the symptoms? What was the prognosis? What about my two young boys? How could I have something so rare? What would this mean for me and my family? I was so young.

I got the call that my blood test was positive and I needed to see a specialist. Thankfully, I live near some of the best hospitals in the country and started researching anyone who knew about this disease. I decided then I would only focus on what I could control. There I found Dr Alan Bonder, a hepatologist/gastroenterologist through Beth Israel Hospital, Boston, who dedicated so much of his career to PBC. At my first appointment he reassured me that he would be there to support me through my journey and he has lived up to that to this day. When fear comes over me and I reach out to him with questions he is there for me. He told me I needed to learn how to life with PBC and not worry about dying from it. He told me I needed to develop a strong support system and become a part of the PBC community, where I would find support groups and learn about the latest global updates for the disease. I can never explain the gratitude I have for Dr Bonder, his team and the PBC community. 

Six years later, I have learned so much about living with a rare disease, especially one that cannot be “seen” on the outside.

You can feel invisible at times. People do not always understand something that they cannot even remember how to pronounce.

I urge anyone who finds themselves going through something similar to never give up. Find the answers. Keep digging. Keep researching. Find the doctors who are knowledgeable, who will listen and dig deeper. Trust your gut. And when you find that answer, reach out for help, support and guidance. Find the support groups, even if they are across the country or even the world. Confide in those closest to you and educate them about what you are going through. If I had not been proactive, my outcome could have been different as PBC is a progressive disease that needs to be discovered and treated early for the best possible outcome.

I am grateful for where my health is today and I am well managed through my amazing team. They listen and take each concern I have seriously. My recent fibroscan (a test that measures how well your liver function is) showed good results. Yet, I still deal with daily symptoms and that is OK. I learned that you need to be your best advocate. The worst part of the day for many PBCers is mid afternoon. The fatigue can be debilitating. We are not “lazy” or “exaggerating”. There are times our body can simply shut down. I listen to the signs and rest without guilt, accepting it’s all part of living with the disease and not dying from the disease.

I’ve accepted that I am part of the zebra club (rare disease) and proudly wear my stripes. I have vowed to help others and do what I can to increase advocacy, research and awareness. This race for me is a marathon and I’m in it to win it.

Lastly, I want to thank my own family and friends who have been there for me. Especially my husband who never hesitates to come to every doctor’s appointment driving for over an hour each way. My children who never judge me or make me feel less of a mother when they see me on the couch. My family and friends who are always checking in on me, especially after the many doctors’ appointments. And my team of doctors who provide me with exceptional care around the secondary aspects of the disease. I am also thankful to outlets like RARE Revolution Magazine for giving me a voice. You are all a part of my success.

Colleen Colburn

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