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We are doing Big Wow Walks in memory of our son Patrick Allen Melvin who passed away from Wilson’s Disease complications on September 29, 2015. We had started taking him to the doctor when he began middle school for various concerns (small symptoms of Wilson’s in looking back). He was not diagnosed until he was 33 and in a very advanced state of Wilsons. We had never heard of the disease and had to really push to get him tested for it when he showed sclerosis and a high copper count. His count was very high and after he was diagnosed they aggressively started kelating with Syprine. At the height of his kelatiing his medication was disrupted due to price hikes from Valeant and the time length necessary to get a grant and continue medication. He went through horrible symptoms during this time believing his clothes were on fire, drooling, slurred speech, inability to sleep, tremors that caused his arms to swing upward and behind his back obvious affects to his brain.

After contacting Mary at the Wilson’s Association we were able to get him back on his treatment although we will always believe due to the severe symptoms he had during that disruption caused damage to the brain that caused his stroke 9 months later.

He was our hero. He was an amazing young man with a huge heart, laugh and family and friends that loved him. He was the kind of guy that people would come to comfort or support him and they would leave with him having lifted them in some way –you always felt better after time with him and full of good spirits and will-he lit up a room and what we miss the most in or home is his beautiful laugh and positive spirit. He left behind brother, parents, nieces and nephews and two year old daughter and many friends all with broken hearts. We miss him horribly

It breaks our heart to look back and remember how many times we took him in stating that something wasn’t right and how it took 22 years to diagnosis the serious and for him fatal disease.

We hope this walk will give us all something to help remember him on the one year anniversary of his death and that awareness of Wilson’s and proper treatment and pricing for the medication will be addressed so the help is there when the disease is diagnosed.

 

 

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Hi. My name is Janice and I'm 57y/o. In 1975, at the age of 15, while in 9th grade, I was diagnosed with Wilson's Disease. I have definitely been one of the lucky ones!!!!

I presented neurologically with symptoms that mimic Parkinson's. At that time, I drooled, had tremors, slurred speech, difficulty with swallowing, was generally uncoordinated, “giddy” per my mom and had illegible hand writing, so much so that my teachers used to give me my papers back saying that they couldn't grade it because they couldn't read it!!

I was on the morning announcement system and there were reports that it was too difficult to understand me because of my slurred speech. I couldn't read the announcements because my arms had such bad tremors that the paper wouldn't stop moving. My gym teacher called my mom to report that she noticed I had become uncoordinated in class. Kids that supposedly were my friends made fun of my slowed movements, and deliberate gait. That continued into my sophomore year which I remember to be very painful emotionally.

Thankfully my mom knew to take me to a pediatric neurologist at Cleveland Clinic as I've heard nightmares about incorrect diagnoses with devastating and even sometimes deadly outcomes. As I said before however, I'm one of the lucky ones!!!! The diagnosis was made by a fellow in training; my Kaiser Fleisher rings were visible to the naked eye, which assisted him in making the correct diagnosis! I was pretty upset! I remember hearing the word brain and freaking out! All I could imagine was that my beautiful long blond locks would need to get cut off for brain surgery!! And no more pizza or chocolate!! No way- they were my favorites of all food on earth!!!! (The thoughts of a 15y/o)‼️‼️

Thank God I was diagnosed early enough so that most of my symptoms reversed themselves over the years with the use of Cuprimine and following a low copper diet.

Years of being on the Cuprimine took a toll on my skin, and I eventually developed two rare side effects; Elastosis Perforans Serpiginosa otherwise known as EPS and what some people just call progeric wrinkling, but my dermatologist calls Elastosis which essentially is loss of elasticity of the skin. It occurs at the neck and at joints mostly.

I have always been extremely self conscious of these wrinkles and the EPS lesions especially when they were super obvious and presented all over my neck. Again, though, I lucked out as my understanding is that 50% of the time Cuprimine can exacerbate neurological symptoms. I thankfully didn't succumb to that one.

Trying to find a doctor to switch me to Syprene, a less toxic drug,presented a whole nother plethora of challenges. That was finally accomplished, and another switch and now I have been on Galzin for approximately 23 years.

I'm an Occupational Therapist, married, and have a son.

My later year struggles with WD have mostly been early arthritis requiring the need for bilateral knee replacements, and a few C-spine fusions starting in my thirties. I’ve also struggled with taking the zinc on an empty stomach as I developed Insulin Dependent Diabetes when I was 29 y/o and I sometimes awaken with a low sugar or have one right before bed which of course requires food and that is when I normally take the zinc, of course! I also need to say that I have recently had many issues with balance/falling a lot and memory/ not remembering words. Well, the FIRST thing to come to mind is of course, Wilson's. Could it be rearing it's ugly head AGAIN?? Of course it could, but it wasn't. It was other things causing these problems, thank God again!!

On my last note, I again want to reiterate HOW LUCKY I AM AND HOW BLESSED I FEEL!!!! And it is much more difficult living with the Diabetes than with the WD!!! I still consider myself a Wilson's Warrior however!!

 

 

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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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Change. A word that means so many different things to different people. Change is hard to accept. Change is something most people resist. Change is sometimes out of your control. Change is what I needed to do if I wanted to survive and thrive with Wilson's Disease.

I choose to look at change as something positive. I am a stronger, wiser and more compassionate person because of it. I took control back from Wilson's Disease, something I had no control over, and challenged myself to overcome my physical limitations through sheer determination and stubbornness. I would not let it control me. I would not accept that I would have to "live" with my physical limitations. I believed I could get better. I had faith. Faith that I would be able to fight through it and make the most out of the challenges I faced. Faith in myself. And, most importantly, faith that my God would not forsake me.

I will never give up trying to get better. I will never give up hope that I will beat this disease down to something that does not limit me anymore. This is why I choose to share my personal story and why I am so honored and humbled to be a part of the Big WOW in Los Angeles.

I had no idea that my life would completely change in mid-2014. Over the course of the next year, the physical person I was no longer existed. My confidence, assertiveness and strength also began to fade as my physical limitations progressed. From the moment I noticed a slight change in my otherwise very neat and small handwriting, I knew something was wrong. It did not make sense to me. I also noticed I was feeling more fatigued than usual. At first, I attributed it to my consistently long working hours as a trial attorney. But it was a different kind of fatigue; something no amount of sleep and rest would alleviate. I decided to go to the doctor. Initially, my doctors dismissed my symptoms because they were so slight and because things change with age.

But I know me. I know my capabilities. Over the next few months, I noticed slight tremors in my hands and neck, I was slower at tasks I used to do quickly, my balance was getting worse, I could not focus my eyes, and the fatigue and changes in handwriting got significantly worse. None of my doctors could figure out why my neurological faculties were deteriorating so quickly. Without running more tests or researching my symptoms, they casually and quickly dismissed me. So, I insisted I be referred to a neurologist. I made an appointment with Dr. Saumya Gill and to my relief, she believed me that something was wrong. She told me, "high functioning, intelligent people would notice the slightest change sooner." That statement comforted me because it validated to me that my symptoms were real. Dr. Gill ran multiple blood tests, ordered MRIs and referred me to various specialists. Unfortunately, the specialists did not believe me and told me I had a psychological problem. Those doctors took the easy way out and blamed the problem on the patient. I believe if more doctors were like Dr. Gill, other patients would be diagnosed sooner with Wilson's Disease. She took the time to listen, to care about her patient and believe her patient. It is that belief that allows a patient who is struggling with an unknown illness to continue fighting for the answer.

I continued to deteriorate. So much so, I was staggering around. It was hard to keep my balance. My tremors were worse. Then, my voice and speaking ability changed. It became arduous for me to even communicate the symptoms I was experiencing and what I was feeling. In public, the moment anyone heard my voice, my slow rate of speech, and inability to articulate and say multisyllabic words, they turned to look at the "weird" person. It shocked my conscious that people looked at me like I was less than a whole person. They made assumptions about my intelligence and capabilities. My mind was still working. My internal voice was screaming, "I am still me! I can still think! I am not stupid!" The looks I received were disheartening. This was a novel and frightening experience for me because I was so accustomed to commanding attention when I spoke in a courtroom or at meetings and events.

My health reached a tipping point one evening, which sent me to the emergency room. The ER doctors were confounded and diagnosed me with generalized ataxia. I was admitted to the hospital for further testing. The next morning, the head of the neurology department examined me using subjective tests based on his preconceived bias that many neurological symptoms are caused by mental health issues. Without reviewing my medical record and conducting a thorough neurological exam, he diagnosed me with Panic Disorder. It was at that point I realized I had to get proactive and advocate for myself. I had never suffered a panic attack before in my life. I had a high stress career. In fact, I thrived under stressful situations. My experience with this neurologist was the spark that reignited my confidence and allowed me to stand up for myself. I refused to believe the doctors that dismissed me.

After he discharged me with a mental health disorder, I went back to Dr. Gill and she referred me to a movement disorder specialist (within the HMO I was currently insured) and to an outside movement disorder specialist, Dr. Jeff Bronstein, at UCLA. Dr. Gill and the neuroradiologist suspected Wilson's Disease. After meeting with Dr. Bronstein, he confirmed my diagnosis of Wilson's Disease in August 2015.

Dr. Gill put me on a conservative treatment of zinc acetate because my neurological symptoms were so severe. She did not want to risk my neurological symptoms getting worse or becoming permanent on penicillamine or trientine. By this point, I had deteriorated so significantly I was in a wheelchair, bedridden, and unable to control my tremors, feed myself, dress myself, bathe myself and take care of my basic needs. I could barely speak. Other than my immediate family, no one could understand me. My family could see my suffering. They knew me best and knew the person I was -- self-assured, highly motivated, independent and hardworking. At my lowest point, I felt helpless and despondent. I wondered if I would need 24-hour care for the rest of my life. It was hard for me to be completely and utterly dependent on others. I was worried that I would never be able to return to my career that I loved. Would I be able to live the life I was meant to live? Or would I be this helpless person who could not survive alone?
Although my neurological symptoms were debilitating, I found hope. With a proper diagnosis, I had peace of mind that I finally knew what was wrong with me. I found comfort in knowing my illness was treatable. I renewed my commitment to fight this disease. The first step was taking charge and entering a drug study recommended by Dr. Bronstein in December 2015. He is the Director of Movement Disorders and Wilson's Disease Center of Excellence at UCLA. The study was being conducted by Wilson Therapeutics for a new drug, bis-choline tetrathiomolybdate (WTX101), and directed by Dr. Bronstein at UCLA. Initially, my symptoms worsened but over time I noticed changes. I was feeling stronger and less tired. After three months on the drug, I decided I was strong enough to start physical, occupational and speech therapies. It was not easy. I was still in a wheelchair. I still could not do most things for myself. And the 30-minute sessions took everything out of me.

Over the next few months, I noticed that I was getting better. I practiced my therapy "homework" for at least four hours per day. Then one day, I decided I would take a walk around the block. The first time I tried I stopped multiple times, rested my head against walls because of my neck tremors and supported myself on my sister who shares this disease with me (subsequently diagnosed in late 2015). Before I knew it, I could walk around the block without stopping. By November 2016, I was walking 10,000 steps per day! Although I struggled, I could do day-to-day tasks and take care of myself. I started driving again in late December 2016.

Now, I am completely independent. Strangers would never know I had a debilitating neurological disorder. I am very active again like I used to be. I regularly go to Pilates and spin classes, walk/run most days and I am back to weightlifting.

I could not have accomplished this without the support of my loving husband (who married me when I was sick and before my diagnosis), my family, my church family, my friends, Dr. Gill, Dr. Bronstein and the incredibly extraordinary medical team at UCLA. God gave me the strength and will to keep fighting, and have faith that all things are possible with Him. I am humbled by His grace and mercy on me.

I share my story because together we can beat this by inspiring others, encouraging others, supporting others and having collective faith that we will become the best person we can be with Wilson's Disease. The reason why I choose not to show my face in my profile picture is because I want to represent all the faceless people suffering with this disease. We are all one and the same. Nine months ago, I would never have believed I could climb up the stairs at the Baldwin Hills Scenic Overview (almost 300 steps going 950 feet vertically). But I can now. This is me triumphing over Wilson's Disease and reaching the top of the mountain!

 

 

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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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