Living with Wilson Disease

As a chronic illness, Wilson Disease has a significant, lifelong impact on patients, their families and their healthcare providers. Read below or watch a video with personal stories of individuals living with this rare disease.

Jacob – Diagnosed with Wilson Disease at age 15

When I was diagnosed, I was about 15 and a half. I felt relieved, worried, happy, sad, depressed. I just experienced every single emotion imaginable.

The manifestation of my Wilson Disease was neurological. The symptom I first experienced was a sense of drooling. I started losing my ability to speak and I had trouble walking. I went to about half a dozen different doctors. After my diagnosis, I was relieved. It was just very tough for me in the beginning, because at one point no one understood what I was saying, even my own parents, my sisters and my friends and my family.

My experience with Wilson Disease is very, very tough. During the diagnosis process, I missed a whole year of high school, which I had to make up, so I could graduate with my high school class. I did graduate recently.

Wilson Disease has had a huge impact on my life, because I have slurred speech and a very monotone voice. I can’t really sound excited. I can’t really sound sad.

It’s been tough to be able to be around people that don’t know me. That is why I volunteer at a local Animal Control. I’m forcing myself to be understood by people I have just met. I have a tough life, but I’m a very tough person.

The advice I would give to someone diagnosed with the usual symptoms is to get in therapy right away. Go start any services that you need, especially speech therapy and physical therapy and maybe occupational therapy. Because to overcome where you are, you need to do the therapies. I have been to therapy for over two and a half years. I have improved tremendously. But, if you fall off your medication, you’ll just go back to where you were when you first started.

I feel like it is very important that the world have better awareness of Wilson Disease or any rare disease out there. It’s important that we diagnose these diseases, so we can treat them before they actually manifest like mine did. What I want people to understand about Wilson’s disease is that it exists. It is a disorder and it can happen to anyone.

Nicole – Diagnosed with Wilson Disease at age 25

I’m 25 years old and I was just diagnosed with Wilson Disease. I first learned I had Wilson Disease when I was actually a month from getting married. It was very overwhelming trying to balance wedding plans and this disease.

When I was first diagnosed I had slurred speech, my balance was off, I had difficulty walking and I had stiff muscles. I couldn’t sit on the ground. I had to sit on a couch or a sofa. It just hurt too much. I’d just randomly fall over or fall out of the shower.

To me, the diagnosis was kind of a long process. It was frustrating because I went to a bunch of doctors. I was misdiagnosed and I had liver problems. Then the neurological symptoms started.

Wilson Disease has had a huge impact on my life. Everyone experiences it differently but not knowing when you’re not going to be able to speak or when you’re going to fall over…it’s frustrating. I am so lucky to have my husband. He’s a good man and he supports me.

The best advice I can give to someone with Wilson Disease is to be optimistic. Never give up. Hopefully, you have people around you that are there to support you. Just having a good support system is the best. Just have that smile on your face, because I believe smiles are contagious, and if you’re smiling there will be other people smiling back at you. Look at the glass half full because there is hope. Fortunately, with this disease, there’s treatment.

Ron – Diagnosed with Wilson Disease at age 6

My experience with Wilson Disease is a little more unique. I was diagnosed because my brother was diagnosed earlier on — he was diagnosed at age eight and I was diagnosed at age six.

Fortunately, I didn’t have a lot of the symptoms that other patients go through. Growing up with Wilson Disease especially at that age is very challenging. It’s being told that you have to take your medication or follow a strict diet because if you don’t, you could potentially die. It’s very tough to take when you’re that young. It really does give us a different perspective.

My mother was actually one of the founders of the Wilson Disease Association. She took my brother to about six different pediatricians and the first five said it was colitis. My parents really know their kids and my mother was always questioning the diagnosis, as it didn’t really fit with my brother’s personality. She kept digging for more until something made sense.

Then one of the doctors came back from a liver seminar and said it potentially may be Wilson Disease. That’s how my brother was diagnosed. He ended up getting a liver biopsy. My sister and I too – we all had a liver biopsy. I was confirmed as a patient with Wilson Disease. My sister’s a carrier.

To treat and manage my disease, I think it takes due diligence. It’s making sure that you have your medication, your vitamins and you watch your diet. As long as you maintain that level of discipline, you’re going to live a very happy and fulfilled life. Wilson Disease becomes a part of you, but it doesn’t define what you are.

There is no question about the importance of compliance in managing Wilson Disease — you have to be compliant with treatment to control your disease. We don’t have a decision about if we want to have this disease or not. Yet, it’s 100% our choice if we want to manage it and that is through compliance.

What I like to tell the world about Wilson Disease is that it’s there and that most people don’t know about it. If you have it, don’t let it define you.

Stefanie – Diagnosed with Wilson Disease at age 22

When I was first diagnosed with Wilson Disease I had different kinds of symptoms. I would get leg cramps and foot cramps uncontrollably. They were very painful and there was nothing I could do to control it. Then I started to gain a lot of weight in my stomach and in my ankles, and I didn’t know what that weight was.

My skin started turning yellow and I became very jaundiced, and it was clear that my liver was failing. When I finally got to the right doctor, he took a look at my liver test and said that I had a severe case of liver disease. They admitted me to the hospital right away.

It took about two years to diagnose and I went to several doctors. I went to several types of doctors — a gastroenterologist, gynecologist, movement disorder specialist, and internist.

When I first learned my diagnosis, I felt in disbelief that I had something that was so severe and really didn’t realize it, and that so many doctors had missed it. I was thinking more about the people that loved me and that I loved.

I would like to see a lot of improvements in how Wilson Disease is diagnosed and cared for. The main thing is the education of physicians. I think that we’re a long way off from being able to really touch all the physicians.

Living with a chronic disease takes some effort and you need to remember to take your medication. You need to remember to do your testing, and set aside time to do your testing. You need to understand that you’re going to be living with this.

I think there’s a myth that when you’re asymptomatic like I am, that you think “I don’t have the disease anymore.” Even as much as I know about Wilson Disease, there have been times I thought that because I’m so healthy, I’m fine. And that’s not the case. If I stop taking my medication, I’ll die. It’s really important to integrate that into your life and to make sure that you’re doing everything that you need to do to stay healthy.