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SHORT VERSION

This will be the first year my family hosts the Big WOW walk in our community. In April 2016 I was diagnosed with Wilson’s Disease. My husband and I have three young children that will need to be tested for WD as it is a genetic disorder. Since I have WD they will be carriers. Also future generations will need to be informed of WD, even if my children do not have it. Our five year old will hopefully have the test done sometime in September. Early detection is key to helping prevent symptoms so we are excited to get the testing done while they are still young.

WD symptoms can vary from mild to deadly, and can get progressively worse without treatment. They are different for everyone, sometimes affecting the liver and sometimes affecting the brain. My symptoms have been primarily neurological resulting in tremors, seizures, movement issues, and bouts of speech issues. I was diagnosis with 5 different health problems over the course of four years before all of it added up to WD. It took the combination of seizures, tremors, and low liver functions for me to ever learn about WD and getting the correct diagnosis. I praise God for a name for my condition and also for getting to experience the reversal of most of the health issues since I’ve started treatment with zinc.

One very interesting thing I’ve learned about copper is that it is used in some barometers. This means that as the air pressure drops, copper mass increases. For me this means whenever temperatures rise really quickly or a storm front is coming through, I will most likely have seizures. There is just enough copper in my brain to be affected by the changing weather. Most days though, when the weather is mild, I am symptom free now that I am taking zinc.

MY STORY

Amanda Schrepel2Going back to the fall of 2012, at age 25 is where my story begins. I had my first baby in March, and the nurses told me I might be anemic for a while. After 6 months I still wasn’t feeling well. I was tired all the time and really light-headed. Blood work revealed a vitamin D deficiency and slight malnutrition; the doctor assured me it was nothing to worry about.

A couple months passed, and I didn’t feel any better. I started falling down a lot in the evenings. I would just be walking across the floor and fall for no reason, and would crawl around afterwards, like I couldn’t remember how to walk. The next morning I would wake up and walk just fine. About that same time I started getting muscle spasms and felt really shaking.

Time went by and I saw my aunt having health issues, shaking hands and head nodding. Her shaking looked like how I was feeling, and I found out her issues are called dystonia. Actually quite a few family members on that side have different types of dystonia. Now I had a clue for my doctor, so he ordered an MRI and EEG and set me to a neurologist for the results. While looking at the MRI, the neurologist paused to point out white spots. He said something like “Hmm, I’ve never seen that before. The machine must have had a glitch.” Since he wasn’t concerned with it, neither was I. (Copper shows up white on an MRI scan. Major indicator of WD!)

A few more months passed and I had medicine for the dystonia. Sometimes it didn’t seem to help and I noticed there were certain buildings I felt instantly sick in and would go outside and feel ok again. By sick I mean they would send me into an instant acute dystonic attack. That basically means my arms and legs would twist and I had really obvious muscle spasms. One of these episodes happened in my hometown and our local RN saw it. She told my mom I needed to go back to the neurologist because it looked like a seizure. So I did some research and found blue polarized sunglasses would help prevent seizures. I also learned reflex epilepsy happens deeper in the brain so it doesn’t usually show up on EEGs. The neurologist said it could be either partial complex seizures or A-typical migraines, such as hemiplegic migraines.

I heard of a doctor who was pretty good at figuring out odd cases, I went to him, and he issued another round of routine blood work. He also gave me some diet tips for seizure patients. I tried the diet tips and before the nurse called with the blood work results I was mentally going nuts. My brain was going a hundred miles an hour and my body was exhausted. She called with the test results and said, “Everything looked good, except low liver function, which is probably malnutrition”. We talked for a little bit and I decided since my liver scores were still low and it had been 4 years, maybe it wouldn’t hurt to research what I should eat to help with the malnutrition.

Before I began searching the web, I shot up a desperate prayer asking God for answers. I remembered reading the book 1000 Gifts and how a name for what was wrong was so much better than the sickness being unnamed, even if it was a bad sickness. That was my prayer, just a name for what was wrong. Within a few moments my fingers were clicking and lower liver function had a link to WD symptoms. There I saw tremors, seizures and low liver function all listed together. A Pinterest search showed a boy with his body twisted and cramped and it was like looking in a mirror. That was the same twisting and cramped posture my body would go into when I had an episode. I spent a few days searching everything I could on it, and found so much relief and fear in how much I could relate. I was so sure I had a name for it now! I asked my chiropractor if she had any zinc and she grabbed my hand to look at my fingernails. She said that there would be white spots on them if I was zinc deficient and I definitely had quite a few of those. She agreed it wouldn’t hurt to try taking zinc. I liked that idea since what I had read on WD said the medication usually prescribed caused severe neurological deterioration during initial treatment. I was just getting ready for tax season to start, so I waited until after tax season to have my blood work done. Five months of taking the zinc, pretty much all of my health issues went away and the doctor confirmed that Wilson’s Disease was the culprit. It was a long journey back to wellness, but I hope my experience can help others be aware, especially my family members who have similar symptoms.

 

 

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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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