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What I Want to Tell Others Fighting This Rare Liver Disease

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I was diagnosed with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease, when I was 4 weeks old. PFIC is an ultra-rare condition that worsens over time and affects about one in every 50,000 to 100,000 live births worldwide. At the time of my diagnosis, there was little research or understanding, and this was very scary. My family watched the gradual onset of pruritus, a hallmark symptom of PFIC that causes insatiable itchiness. As my motor skills developed, my scratching worsened, and I would itch my skin until I bled.

I underwent my first surgical intervention, a biliary diversion, when I was 6 months old. This surgery removes excess bile acids from the liver, which can help improve pruritus, but my severe itch persisted. I couldn’t sleep through the night and relied on a feeding tube for nutrition supplementation.

I am so lucky to have had the support and love of my siblings and mom, but PFIC has significantly impacted their lives. I frequently woke my mom up in the middle of the night to change my bloody bedsheets. My siblings often dragged me out of bed for school, dressed me while I was half asleep and carried me to the bus stop. I would skip class to nap in the nurse’s office. My family was constantly helping me catch up with schoolwork.

As I got older, teachers were less understanding about PFIC and more insistent on keeping me awake in class. For example, I had an aide who would take me to the bathroom to splash cold water on my face. Sometimes, I had to stand at my desk while everyone else was sitting. I was always “different” because I had a backpack attached to a feeding tube and spent so much time in and out of the hospital. I explained to people I had a disease that made me have all these symptoms, but had no cure. It was difficult to accept this was what the rest of my life was going to be like. I almost had a nervous breakdown. My mom was so worried about my ability to cope she made sure to find me a therapist from a very young age, almost as soon as I could talk.

Liver transplant is reserved for people living with severe symptoms of PFIC or those who are at risk of liver failure. I received my liver transplant when I was 10 years old because my liver disease was progressing quickly. Recovery from transplant was not easy, and I was in critical condition at one point during my six-week hospital stay. My body rejected the liver several times and I endured several infections. Additionally, my small intestine stopped working after the surgery and I continue to rely on a feeding tube for fluids and nutrients.

Despite these challenges, I am still grateful because the transplant stopped my pruritus.

The first time I met another teenager living with PFIC — my new friend Laura — was at the PFIC Family Conference in 2019. It was surreal to talk with someone who understood what I had gone through. At the meeting, I participated in a teen panel to answer questions from doctors, researchers and other families affected by rare liver disease. We were asked about different aspects of living with rare disease, such as how to navigate school activities and manage social and family relationships.

Through this experience, I realized teens and young adults with this rare disease need a place to vent, ask questions without judgment and share advice. Laura and I created a Facebook awareness and support page that is affiliated with the PFIC Network, a non-profit that raises awareness through education and provides support for families. We also want to educate others about PFIC, even if they don’t have the disease. My siblings would certainly have benefited from resources explaining PFIC because it took a toll on my whole family. 

PFIC is a complex condition with many unanswered questions. My mother has been my main support and provider my whole life. Now that I am 18, I will need to figure out how to independently manage my disease. I also feel like it is my mission to be a support to those who are feeling hopeless. There are important things young people with PFIC need to know:

I want to tell others they must stay strong, stay alive and keep fighting.

I am a survivor. Others should know it is possible for them, too.

It is important to be involved in advocacy because it can help others get through the hard times and see they aren’t alone.

There are many mental and physical obstacles when living with PFIC. It has not always been easy, but I am stronger for it. Most importantly, I am hopeful in the future, people with PFIC will have more options beyond liver transplant for treatment.

Unsplash image by Max Rovensky

Originally published: April 27, 2020
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