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Stories of warriors touched by Wilson’s Disease and how they fought back by rallying people they know to walk with them and raise money for the patient registry.

Caleb McNiece warrior

caleb mcniece

Our journey with Wilson’s started before our daughter, Sophie, was born. We underwent genetic screening following two miscarriages and discovered that my wife and I were both carriers of Wilson’s. There was no family history of the disease, and neither one of us had heard about Wilson’s prior to the testing.

Shortly after Sophie was born she was tested and was found to have both of our mutations. Currently (age 18 months), Sophie is managing well on a low copper diet and remains asymptomatic. She is being closely monitored by a hepatologist. Because of the rarity of her early diagnosis, he has been in contact with physicians around the world to discuss her treatment plan.

We are participating in the Big WOW to bring awareness to Wilson’s Disease. We consider it a great blessing that we know her diagnosis now, and we hope to use that knowledge to educate others and raise funds for future research.

 

 

 

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Kelsy Walsh warrior

Kelsy Walsh

In 2009, I was off to Colorado to start a new exciting chapter in life as a Musical Theatre Major at CU Boulder. About 3 weeks in I stayed back one day because I was feeling super run down. That night I woke up in my dorm room and headed to the bathroom, I didn't make it too far as I started blacking out and ran right into a wall. The next day my eyes were highlighter yellow and I kept passing out. This started about a month stay in the hospital and daily tests as we tried to figure out what was wrong. It was finally confirmed I had both Wilsons Disease and Hemochromatosis. Once out, It was a rough go, to try to get back into action and try to get back to a normal college life. Little tasks were exhausting, my singing voice completely changed after all the meds as well as my body from the steroids. It was like everything I had worked for was ripped away and I found myself having to start over and figure out a new path. Not to mention being 18 and going to meetings about liver transplants was terrifying, I was not in a good place.

I am so thankful to have had my sister and parents by my side during the whole process. It took awhile but I finally started getting back into a groove, and began dancing again and finding my way. I met my amazing fiancé and have two beautiful kiddos and now reside in Colorado for good.

Wilson's Disease can feel lonely at times as 1 in 30,000 have it and while I am blessed to say I currently am living a pretty normal life, with each test and all the constant blood work it can be an unsettling reminder of where things could turn at any point.

A couple years ago I attended a Wilson's walk in Chicago surrounded by so much family and it was a great reminder of all the support and love that has surrounded me the last 9 years, and it was a chance to hear other peoples stories and meet others who have been affected as well.

This year I am hosting a walk because I find it is so important to know you're not walking alone on this journey! I hope to raise more awareness, and share/learn more peoples stories and make something positive out of what can feel like an otherwise tough situation.

 

 

 

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The Langa Family warriors

langa family

For the past eight years, Constantin Langa (now 35 years old) has been struggling with Wilson Disease (WD). Constantin's symptoms started when his son Traian was only 3 months old (he is eight now!), and his wife, Nichole, were just learning how to be parents. With their "never give up" attitude, however, Constantin and his wife were blessed with the birth of their second child, a beautiful healthy girl, named Adina in April of this year.

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 him and his family 6 months from the start of his serious symptoms to get a diagnosis. By many measures though, they consider themselves very fortunate to have gotten a diagnosis within that timeframe, especially when others in the WD community were wrongly diagnosed or took even longer to get a diagnosis. It was a very traumatic period for his family, as Constantin, a healthy and successful man, was falling apart, and his wife was taking care of a new baby.

Part of the reason Constantin is a survivor is that 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. His family ran from doctor to doctor, and every time the doctors were either baffled, told them what Constantin didn't have, or they were provided with a wrong diagnosis. The first diagnosis they received was anxiety and depression, but they never gave up searching for answers because that just didn't seem correct. His family knew that there was something more going on. It wasn't until he took an MRI, and the neurologist saw the "panda face" that Constantin was 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 Constantin 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.
Eight years into this WD journey, daily life is still a struggle and Constantin still requires regular assistance from caregivers and family. 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, they are defying the odds and continue to see improvements.

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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Amanda Schrepel warrior2

amanda schrepel 2018

Going 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 anaemic 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 of 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. A 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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