We hosted the big Wow in 2015 and 2016 because our youngest son, Alex, was diagnosed in 2010 at the age of 21. Once he was a very active kid and was in Community College at the time, working to transfer to NC State for a degree in Forensics. Alex was diagnosed with Wilson's Disease in July 2010 after several months of neurological decline. In the fall of 2009, he began having issues with speech, drooling and coughing while swallowing that gradually worsened. He had issues with walking and balance and when we looked back, realized the hand tremors we saw over a year ago were probably earlier symptoms.
After a visit to our family doctor, she sent told me that he had a very abnormal neurological exam with cog-wheel rigidity and sent him to Duke Neurology. He had a CT scan which showed basal ganglia infarcts or stroke-like damage. However, it was bilateral, which is not like a stroke. Plus it continued to worsen. The MRI confirmed the damage and the radiologist suggested Wilson's Disease. After much web-surfing, we both had come to that conclusion also and the neurologist decided to do lab testing for Wilson's disease.
All of his lab results confirmed it with a Ceruloplasmin level of 3 (normal is 20-60) and his copper in the blood is paradoxically low since the copper is retained in his tissues and organs like brain and liver.
Alex began de-coppering treatment with Trientine 500 mg, three times a day in August 2010.
He initially declined with treatment and then stabilized, even walking again after spending 8 weeks at Wake Med Rehab. But then he declined even worse possibly due to extremely high levels of urinary copper being released too quickly. We drove 12 hours one night and admitted him to University of Michigan Hospitals Emergency Department and he was admitted to the GI service. Dr. Askari changed his medication to Zinc and he has improved slightly.
Unfortunately the treatment was too late and Alex requires fulltime care for all of his activities of daily living. With constant therapy, he is beginning to walk with the aid of a walker and an assistant and can eat some soft foods. He is happy and we try to include him in many family outings and events.
Our hope is to raise awareness leading to earlier diagnosis and better medications for safer treatments so that others will not suffer the devastating liver and/or neurological effects of this awful disease.
We hope that the video demonstrates to people, not familiar with this disease, how devastating it is. Alex and I are on the right side in the video.
My family and I decided to organize a Big wow walk, Walking on Wilson’s Disease. Wilson’s disease is what I was diagnosed with. It is a rare genetic disorder that approximately 1 in 30,000 people are born with. It is not easy for physicians to pinpoint because they are not aware of what the symptoms might be.
With Wilson’s Disease my liver does not process copper correctly. Anything that Wilson’s patients eat or drink may contain copper and has the potential to accumulate in our organs, including the brain. This is what ultimately happened to me.
I am one of the lucky ones. I was diagnosed soon enough. I am able to live my life, raise my son, be a wife, mother, sister, Auntie M and be a part of the lives of three amazing step-children, their spouses and four grand babies.
Wilson’s patients also battle with insurance companies who are not able to help with payment of claims. This is due to certain pharmaceutical companies that have raised the price of some of the life-saving medicines beyond what is affordable. Some of them have increased over 5,000%. In my case, I was charged $26,000 a month for what was needed to clear my body from toxic levels of copper. Again, I was fortunate. I do not need that particular medicine right now, but so many others do.
Wilson disease does not have a sufficient voice and I believe this walk can raise awareness.
Growing up athletics was a huge part of my life. I played three varsity sports for my high school, and was a competitive swimmer during the summers. In college I focused on lacrosse and became a 4 year starter at San Diego State University. I was always used to being active, and I loved sports.Growing up athletics was a huge part of my life. I played three varsity sports for my high school, and was a competitive swimmer during the summers. In college I focused on lacrosse and became a 4 year starter at San Diego State University. I was always used to being active, and I loved sports.
At the young age of 25, everything dramatically changed for the worse. I had just landed my dream job, took a vacation to Ireland, and then it hit me hard. My hands and feet would twitch uncontrollably, my ability to write diminished, and I became overly exhausted from simple tasks. I told my parents I was going crazy and that I needed to quit my job. This was very unlike me to make such a rash decision without a backup plan, but I knew something in me felt different. My Mom immediately knew this was not right and took me to the doctor. After months of convincing them it was not anxiety, and pleading with her to run more blood work, the results were in. I was rushed to have an MRI scan of my brain immediately after test results showed extremely high levels of copper in my system. I was lucky to then be seen by doctors at University of Colorado (UCH) that had seen similar cases. I was seen by a hepatologist as well as a neurologist to try and determine my exact diagnosis. The hepatologist could see the panic on my family’s faces as he said, “You are lucky that you have a disease which is treatable, but not curable.” After hearing this news he began to explain Wilsons Disease to all of us.
The doctors put me on Syrpine and within the first few days of taking the drug, I could no longer walk, talk, swallow, or do anything on my own. As my health began to rapidly decline, my doctors tell us about a trial drug trial that I may qualify for. We flew to Los Angeles to speak to the experts at UCLA the next day. I was very lucky to qualify for, as there are only 20 patients in the world who were on this new drug. I had to fly to LA every month for a year and now every few months until the FDA hopefully approves it in the next five years. I can honestly say that the trial drug saved my life; otherwise I would have just withered away. Through many sessions of occupational, physical and speech therapy, lots of hard work and good luck, I began to regain some of my motor skills.
I have been blessed beyond belief with great doctors, trainers, family, boyfriend, and friends. My family still wanted me to feel like a “normal” young adult and not let Wilson Disease take over my life but instead to fight hard and beat it! They signed me up for a 5K in June 2016, less than one year after my diagnoses. My goal was to walk the first mile, with two people holding my hands, and I did! A year later I had set a new goal for myself. I was going to run the entire thing averaging 12 minute miles. I achieved my goal once again and averaged 11 minutes per mile. That is where I am at now. I still shake, have difficulty talking, and get tired very easy, but I am just staying positive! My two quotes I live by are “Embrace the power of positivity” and “Use your smile to change the world, don’t let the world change your smile.”
This website is not intended to provide advice on personal medical matters or to substitute for consultation with a physician. The WDA does not accept advertising for this website.
1732 First Avenue #20043. New York, NY. 10128 | 866-961-0533 or 414-961-0533