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My step daughter Makylea Cook was diagnosed with Wilson’s almost two years ago now. They were fortunate to catch it very early in her situation. So with medicine – she has not had any of the side effects of Wilson’s. Until she was diagnosed I have never heard of Wilson’s nor had anyone in her family.

 

 

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I had a life changing diagnosis of Wilson's disease at the age of 24. I received my official Wilsons Disease diagnosis November 3rd, 2016. It honestly took me a few months to grasp what I had just been diagnosed with; I felt relieved that I finally had an answer as to what was causing my symptoms. If it wasn't for my optometrist, I am not sure I would have ever been diagnosed. He noticed color differences in my eyes that were not normal. My symptoms were severe. I was too scared to go to the doctor as I was struggling to walk, talk and swallow.

Now, I feel ridiculous about avoiding the doctor. As a nurse, I encourage my patients not to ignore their symptoms on a daily basis.

My official diagnosis took only two weeks - how incredible! I had learned about Wilson's disease in nursing school, but never once thought I would be diagnosed.

I want to raise more awareness with this rare disease to save lives and hopefully some day find a cure!

Please come and support me and the Wilson's Disease Organization.

 

 

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For the past seven years, my sweet husband (Constantin, now 34 years old) has been struggling with Wilson Disease (WD).  Constantin's symptoms started when our son Traian was only 3 months old, and we were just learning how to be parents. 
 
Some of Constantin's first symptoms included excess saliva, toe and hand cramps, tongue and body tremors, dystonia, slurred speech, and balance loss. It took us 6 months from the start of his serious symptoms to get a diagnosis. By many measures though, we consider ourselves very fortunate to have gotten a diagnosis within that timeframe, especially when we have heard the plight of others in the WD community. It was quite traumatic at the time though watching the healthiest person I knew, literally fall apart, while I was trying to care for our baby... 
 
Part of the reason Constantin is a survivor is because he was diagnosed “early” enough to catch the fatal onset of the disease (although genetic testing at birth would have been the most ideal solution). However, getting a diagnosis was no easy matter. We ran from doctor to doctor, and every time the doctors were either baffled, told us what Constantin didn’t have, or we were provided a wrong diagnosis. The first diagnosis we received was anxiety and depression, but we never gave up searching for answers because that just didn’t seem correct. I, along with my in-laws, knew that there was something more going on. It wasn't until he took an MRI, and the neurologist saw the "panda eyes" that we were finally on the path toward a diagnosis. The MRI, plus lab and genetic testing, and the discovery of Kayser-Fleischer Rings in his eyes solidified the diagnosis. 
 
Over this period of about 6 to 8 months, the neurological manifestations of WD took my husband suddenly from a very healthy, active lifestyle and holding a full time job in Washington, D.C. to completely debilitating neurological effects of not being able to perform any basic function without assistance. Constantin's symptoms greatly worsened 3 weeks following the start of the chelation therapy medication. The doctors tried to save his liver by getting as much copper out of his body as quickly as possible. As a result, his neurological system was compromised. 
 
Seven years into this WD journey, daily life is still a struggle and Constantin still requires regular assistance from caregivers, family and me.  However, his determination to get better means he attends regular therapy (aquatic, modified yoga, neurofeedback, acupuncture, acupressure, speech, etc.) and his many bumps, cuts and bruises are marks of him pushing his limits to overcome. Even these many years later, we are defying the odds and continue to see improvement, although it’s truly a game of patience.
 
Our hope is to raise awareness for WD, so that we can prevent future generations from the same devastating situation. Early diagnosis and treatment is the key!
 

 

 

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I’m Izzy Hoffman and I was diagnosed with WD when I was 14 years old. I was a perfectly healthy athletic kid, rarely missing a day of school. In February of 2015 I came down with a sinus infection. My mom took me to the doctor and I was prescribed an antibiotic and felt better for a few days, then I became sick with the same symptoms. By March I was really sick and barely able to get out of bed. My doctor thought I had mono and ran labs to verify. When the labs came back the results were negative for mono, what concerned my doctor was my liver function test was extremely high and my white count was low. More test were run and my doctor consulted with a rheumatologist and a hematologist. Both doctors thought whatever I had was viral. Weeks went by and I was getting worse not better. My mom insisted to my doctor that we continue to look for answers. My family started to call me Sleeping Beauty because all I did was sleep.

Our primary doctor sent us to Dr. Flynn, an infections disease Disease doctor. Dr. Flynn checked my ceruloplasmin which was very low. This was our first link to WD. Dr. Flynn sent us to a Pediatric GI doctor, Dr. Cameron. He decided I needed a liver biopsy. I had a liver biopsy at Bronson Hospital on May 28, 2015. When the results came back he was not able to make a diagnosis and consulted with Cincinnati Children’s Hospital. CCH called my mom and said they could see us the next day. We quickly packed the car and drove 5 hours to Cincinnati. The next day was full of tests and another liver biopsy. I spent the night in the hospital and the next day we drove home.

On June 16, 2015, we received the official diagnosis of WD.

I was relieved to get a diagnosis and start on medication. I thought it would be like being on an antibiotic and within a few days I would feel better. That has not been the case for me and it’s been a long, slow road to regaining my health.

I take Syprine for WD. I was also diagnosed with Ehlers-Danlos Syndrome about 8 months after WD. I have a mild form of Ehlers-Danlos, but because I was sick and inactive for so long with Wilson’s Disease the Ehlers-Danlos caused my blood vessels to become elastic and I have a hard time pumping blood back to my heart. I now get IV infusions to increase the volume of my blood. The IV’s have been very helpful in making me feel better.

I’ve learned to live my life one day at a time. I will not let Wilson’s disease define me! You must be your own advocate and educate people about your disease.

Having an invisible illness is extremely difficult. I get really frustrated by how fatigued I get. I must analyze my week and if I want to do a big activity on Friday then I will need to take it easy on Wednesday and Thursday. It’s frustrating that I can’t lead a life of a normal teenager.

Educate yourself on the symptoms of Wilson’s Disease. Wilson’s specialist feel over ½ of the cases of Wilson’s Disease goes undiagnosed. Through the WDA and The Big WOW we can bring awareness to this disease and save lives.

Not long after I was diagnosed with WD my mom saw the video for The Big WOW. It was the first time we felt people were describing what I was experiencing. When you search the internet for WD the results are rather generic and seem to say take some medication and you will live a normal life. Wilson’s Disease just isn’t that simple, with it being so rare there just isn’t a huge base to say what is normal. So, if you are newly diagnosed I would recommend sharing the video the Simopolisis family put together with your friends and family to help them understand how diverse this disease is. My mom shares this the video and gives a link to the WDA website to my teachers and coaches at the start of each school year.

My goal is to be a doctor. I know this will be extremely difficult as I continue to recover. What I try and focus on is what has been made possible that wouldn’t be possible if I didn’t have Wilson’s. I’ve met many wonderful people in the medical field. I feel as a doctor I will have compassion and a relatability that I wouldn’t have if it weren’t for Wilson’s Disease.

 

 

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Jean P. Perog
Jean P. Perog President
Jean is a retired CPA living in Merritt, British Columbia. She has WD and has a brother with WD. Jean also served as Treasurer of the Wilson Disease Association and is an active volunteer in her community.
Carol Terry
Carol Terry Vice President
Carol was diagnosed in 1973 with WD and is a retired US Government accountant. She helped found the WDA in 1983 and served as its President for ten years. She also served as Vice-President, Treasurer and Secretary.
Mary L. Graper
Mary L. Graper VP Scientific Affairs
Mary has over 25 years experience as a volunteer leader, and is recognized for her creativity, organizational and leadership skills. She holds a B.S. degree in Education from the University of Wisconsin-Milwaukee.
Jeanne A. Friedman
Jeanne A. Friedman Secretary
Jeanne is a Licensed Clinical Social Worker and has WD. She has been with Wilson Disease Association since 2013 and lives in Kew Gardens, New York.
Stephen Walsh
Stephen Walsh Treasurer
Stephen lives in Boulder, Colorado and has a daughter with WD. He went to college at the University of Colorado and graduated with a B.S. in finance.

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