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Raising awareness about Wilson Disease

Sara Racine, shown here with her children, was very ill and with proper care has gone on to lead a very happy and successful life.

Sara Racine, shown here with her children, was very ill and with proper care has gone on to lead a very happy and successful life.

All of us need some copper to survive, however some people are born with a genetic disorder that eliminates the body’s ability to remove excess copper. This is called Wilson Disease and it affects about 1 in 30,000 people worldwide. If left untreated, copper levels can become dangerously high and cause severe tissue damage in the liver and brain. In some cases, it can be fatal.

Sara Racine, of North Branch, was born with Wilson Disease, but she did not know it until much later as a college student in her 20s.

“My primary doctor had been running some blood work on me for annual physicals, and my liver function levels were always elevated. I started not feeling well. I was tired all the time. I had no energy to really do the daily tasks of going to college. My doctor couldn’t really explain what was going on. My gallbladder had signs of not working well, so they thought that if I had it removed that I would be feeling better.

However, when it came time for the procedure to remove her gallbladder, Sara’s blood work showed that her liver function and enzymes were far from normal and the surgeon would not operate.

“By that time I was feeling defeated and upset because I just wanted to feel better. I remember feeling scared at that time because nobody knew what was going on with me and had no clue how to make it better. With my energy even more depleted, I had to drop out of school because I knew I wasn’t going to be able to function. I had no energy to do anything.”

Catching a Break

Then she went to see a gastroenterologist, and it was there she caught her first break in solving the mystery of what was going on with her body.

“He told my mom and I that he felt that it was Wilson Disease, but it was very rare and wanted to send me to U-M to confirm it. We were feeling a little relieved but still really unsure and worried about what was going to happen.”

The University of Michigan Wilson Disease Clinic is dedicated to improving treatment and quality of life for patients from around the world with both neurologic and liver symptoms of Wilson Disease. Dr. George Brewer started the clinic many years ago through his work with zinc acetate as an effective treatment for safely reducing copper levels in patients with Wilson Disease. Dr. Fred Askari is now the director of the multidisciplinary Wilson Disease Clinic, which is also a designated Center of Excellence by the Wilson Disease Association.

When Dr. Askari met Sara in January 2000, she was quite ill.

Dr. Fred Askari

Dr. Fred Askari

“Sara was acutely jaundiced, along with other liver-related symptoms: fatigue, abdominal swelling and orange-colored urine. We ran diagnositc tests and found that her ceruloplasmin level was low, and she had Kayser-Fleischer rings around her irises, a sign of too much copper. We diagnosed her with Wilson Disease and admitted her to the hospital right away to start her on a combination of copper reduction medicines.”

Sara says, “Everything moved so quickly, it was like a whirlwind. I was in the hospital for about a week.”

Up until her diagnosis, Sara’s family had never heard of Wilson Disease.

“It was very strange and very odd! No one had been diagnosed in my family and nobody had any liver issues in my family up until me. I started reading up on Wilson Disease after I got home from the hospital. I was nervous and scared about how was this going to be for me in the long run.”

On Dr. Askari’s advice, Sara took the following year off as she continued to recover. She returned to school to complete her teaching degree the following year and has been teaching ever since. Now she sees him in the clinic once a year with ultrasound and urine tests done at a local lab every six months.

Improving Quality of Life

Wilson disease symptoms can be managed with proper medical care and diet, like avoiding foods with high levels of copper such as liver, shellfish, mushrooms, nuts and chocolate.

For Sara, this was a small adjustment to make, “I didn’t really have to change my diet. The biggest thing I do every day is taking my medication at a certain time, in addition to making sure I’m following up with the proper care.

Sara Racine and her husband

Sara Racine and her husband

“Right now, life is great. I’m a full-time teacher. I have a great family. I have a great husband and two children. I’m always a little anxious at my next appointment to get the confirmation that my levels are still good, but I feel like I live a very normal life.”

Dr. Askari adds, “One of the things we do is to provide people with encouragement that they can get better. We have to reset people’s expectations and help them understand that Wilson Disease requires a lifelong commitment to treatment and that the improvement takes a while to come to fruition.”

“Sara is a wonderful example of someone who was very ill and has gone on to lead a very happy and successful life. We like to communicate the hope and optimism that goes along with treatment.”

“One of the challenges in having a rare disease is that the patient winds up gaining a lot knowledge about their disease and the physician may have only taken care of 2 or 3 people with that disease, or maybe never even seen a single case. We provide a bridge to these patients for more experience with Wilson Disease.”

Dr. Askari adds that getting screened is key for earlier diagnosis and more effective treatment. “Being aware and thinking about rare diseases when people are sick is most important. The first step to diagnosing a rare disease is to think about it.”

In Sara’s case, both her mom and dad are carriers for Wilson Disease. Her siblings and children have also been screened.

Better Treatments = Hope for a Cure

Dr. Askari has dedicated his research to Wilson Disease because of the patients’ unmet need for more and better treatments, and because more common diseases get more attention.

“Rare diseases collectively are actually quite common. In combination, rare diseases impact 1 out of 7 to 1 out of 9 people. There’s quite a bit of collective energy behind rare diseases, but individually they don’t have the emphasis that something like heart disease or cancer does.”

“We always have our eyes open for other opportunities to improve treatments for Wilson Disease. We obviously hope for earlier diagnosis and better treatment, and ultimately curing the disease would be a wonderful thing. That’s on the horizon.”

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