My Journey with Wilsons Disease

The story of Nicolette

My name is Nicolette. I am 21 years old and was diagnosed with Wilsons Disease in October 2023. Wilsons disease has not been known to run in my family, so I am the first one to live and experience this in my family.
I wanted to share my story in hopes of spreading awareness of Wilsons disease and hoping that it can be recognized and diagnosed quicker by doctors. Wilsons disease is a rare genetic disease that effects .0003 percent of the population that usually starts becoming symptomatic between the ages 12 to 35. It is caused by the mutated gene ATP7B makes it so the body can not discard copper properly. This makes it so copper accomulates in the bodies organs which can cause damage to the brain, heart, liver, spleen and eyes. Some of the most common symptoms are jaundice, abdominal pain, poor coordination and uncontrollable movements, and fatigue. I started noticing symptoms in January of 2023 which presented as stomach pains. It was mostly on the right and left side underneath my rib cage. I was very concerned because I was attending college at a university for nursing school, so I knew these things were not normal. I experienced tremors, feeling lightheaded, catching myself staring off into space, fatigue, restlessness, swelling in my legs and feet, itchy skin and severe stabbing pains where my liver and spleen are to the point I would cry. I saw 7 different doctors all telling me I was stressed and causing myself to have stomach issues. I kept advocating for myself, but they dismissed me and never ran any tests or even basic blood work. I didn’t have issuance and I had prior stomach issues when I was younger that were assumed to be correlated with stress but up until this point, I was a young, healthy athlete with no other prior medical issues. I had to make the hard decision to move back home from Arizona where I attended college and take a break from school to figure out my medical issues. I had a very scary flare of Wilsons disease before I was officiallyy diagosed that made me very sick. I was very weak, had a fever, vomitting, had severe jaundice that my eyes looked like they were glowing and I slept for an entire day. I wasnt aware nat the time how serious it was and was not educated on very well on what I should do in those situations and assumed it was the flu so I didnt get any medical attention. I now know that I need to get medical attention right away in case I ever have a flare up again because those symptoms an actually indicate liver failure. I will forever be thankful for my team of doctors for listening to me and helping me figure out why I was experiencing these symptoms.
They ran numerous tests including abdominal ultrasound, CT scan with contrast, doppler ultrasound of the portal system, fibroscan, bloodwork almost once a week and a 24-hour urine copper test. I was first diagnosed with autoimmune hepatitis however it was later determined to be Wilsons disease. My liver enzymes were elevated, my ceruloplasmin level was low, my INR was high, my copper levels in my blood were low and my copper levels in my urine were extremely high. All of these things indicate Wilsons disease. Wilsons disease has caused my spleen to be enlarged and my liver to be severely damaged. Unfortunately, the copper build up in my liver is so severe that I am now on the liver transplant list. While I am waiting for a liver transplant, I am taking Penicillamine a chelator that takes the copper out of my body so that my other organs won’t suffer any more damage. I take 3 doses a day and according to my last 24-hour urine copper test, my medication is working. Some days are better than others, but I am starting to feel like my old self again and don’t experience symptoms as intensely anymore.
I am extremely thankful for Swedish and all the medical staff who have helped me manage my disease so that I can enjoy my twenties and all the things that my new look on life has to bring me. I hope to start back into nursing school again soon so I can help others and continue to spread awareness of Wilsons disease. I am also extremely lucky to have such a solid support system like my family and friends who helped me be brave and gave me the strength I needed throughout my entire diagnoses journey. Not only does this disease effect the person living with it, but also the people around who help support and take care of the patient through this journey. I hope my own journey through this disease can help with research to find a cure and help patients and their families have a peace of mind that this disease is manageable and that you can live a very normal life with Wilsons Disease.