We Are Wilson’s: Stories

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The Salas Family

We’re the Salas family. We live in Argentina. We have 3 kids, two with WD: Valentino (15) and Lola (9)

Lola was 5 when the disease was discovered on May 31, 2015 and getting a diagnosis was not easy. Lola had no symptoms; she only had to had a pre-surgical analysis done and it stated that her liver enzymes were excessively high. It took us one year to get a diagnosis, with blood tests carried out every 20 or 30 days, until a liver biopsy was finally performed.

Following her diagnosis doctors studied her brothers, and they informed us that Valentino also has the disease. Luckily they’re both without symptons, but it’s very worrying to know that it is a lifelong disease.

Currently they are being medicated with zinc acetate, and we follow a low copper diet.

In our country WD is unknown. There are no statistics and it’s very difficult to find doctors who know about it.

We know that we are lucky because our children are healthy, but we can not stop thinking that if we had not detected the disease on time the story would be very different.

From our roles as parents we try to inform people about Wilson Disease. Knowledge is the best tool to diagnose the disease on time!

Katarina Samardzic

Our daughter Katarina was diagnosed with Wilson’s disease when she was only four years old. We were very fortunate that it was an early diagnosis, and the disease was caught and treated before severe symptoms started occurring.

The doctor that initially diagnosed my daughter has continued to care for her, and she has done an amazing job. Whether it’s staying on top of the latest treatments or discovering new devices that can help monitor and treat my daughters Wilson’s disease, our doctor has done it all from the start, and we are immensely grateful for all the help that she has given us.

We feel that it is our mission to bring awareness that would first lead to earlier diagnosis, then to help raise funds for the research to find safer treatments and finally a cure so that others will not suffer the devastating effects of this not-so-known disease.

We would like to be able to support patients and help their families through their journey.

Katarina just turned 18. This experience of getting diagnosed led to her career interest in health sciences, which she is going to study at Stonehill College starting this fall, September 2018.

Aneta Sajek

I live in Poland, currently studying and working. I was 16 when the first symptoms of the disease appeared. In my case, they were only neurological. I became dependent very quickly. In 2016, after about two years, the diagnosis was made. I get treated, the results, my condition and well-being improve.

The onset of the disease was very difficult for me, a young, so far independent woman, who is becoming more and more dependent on third parties every day – that was the worst. The diagnosis took a long time and my condition was getting worse day by day. Doctors wanted to treat me for mental illness because they didn’t know what was wrong with me. It was the most difficult time in my life, I am glad that I can live independently and enjoy life again.

Amanda Schrepel

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

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 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.

Chris Simopolous And Family

Our family was hit hard in 2013 with 3 of our 4 kids being diagnosed with this deadly, life-altering disease. Since that time, we have had the sacred privilege of hearing story upon story of families that have been affected by WD. It is our deep desire to raise awareness of this rare and orphan disease, connect families that have or have been affected by WD, and of course to raise funds to further research for better medications for the future. My family and I invite anyone that wants to host a Big wow in their city to follow the link on this page for information and fill in the sign up form that will come to me.

Editor’s comment: Chris was the chairperson for the first two Big Wow fundraisers and is chairing again this year. Not only are Chris and his family warriors that are dealing with this disease but Chris is a warrior and champion raising funds for research and helping others do the same. Countless hours have been donated to this effort. Thank you Chris.

Mallory Smith

In memory and honor of Mallory Smith. 

While attending cheerleading camp at age 17, Mallory Smith told her mom that she didn’t feel quite right.  That was a Monday. By the following Monday she received a life-saving liver transplant.  The cause of her sudden liver failure turned out to be Wilson disease. that necessitated a life-saving liver transplant in the summer before her senior year of high school.

Mallory’s donor liver helped her enjoy senior year and graduate high school in 2007. But her mom Lisa says the donor liver wasn’t happy and despite excellent medical care, Mallory had a second liver transplant during her first year in college.

Determined to not let her transplant hold her back, Mallory continued as a college student with plans of becoming a nurse.  Sadly, a series of infections that she couldn’t fight off, took her life in 2011 at age 22.

Her family is grateful for the 4 1/2 additional years that they had with their daughter because of the donor livers.

Mallory was more than a young woman, she was a beacon of hope, a symbol of resilience, and a testament to the power of the human spirit.

In her memory, Mallory’s parents alongside Georgia Transplant Foundation started a scholarship fund called the GTF Mallory Smith Scholarship Fund. Each year, they work to raise $4,000 to provide a scholarship to a young student in the state of Georgia.

Scholarship recipients must be an organ recipient or somehow related to the transplant world  and be pursuing medical studies. To date, 13 scholarships have been awarded, totalling $52,000.  To date the Smiths have raised over $136,000 for Georgia Transplant Foundation.

And they undertake a silly sock drive to benefit Children’s Healthcare of Atlanta. Mallory was known for her love of silly socks. For children in the hospital, a package of silly socks brightens their day and their feet. To date, Team Mal has donated close to 18,000 pairs of socks!

If you’d like to learn more about Mallory and her parents’ amazing work in their daughter’s honor, visit their Facebook page: PayItForward17.

https://www.facebook.com/PayItForward17

For more information about the GTF Mallory Smith Scholarship Fund, visit https://gatransplant.org/mallory-smith-legacy-scholarship-spotlight/?fbclid=IwAR0dO0wSF497hn1Elw3qPXPvro2xxvR0tlpxVfzUtPZ0M5kb6xvP-1NzZ9s

Thank you to Mallory’s mom Lisa for sharing her story and for her incredible work in honor and memory of her daughter. The WDA learned of Mallory and her Wilson disease when Lisa shared her daughter’s story at the GTF annual gala.  We appreciate her raising awareness for Wilson disease so more patients can be diagnosed in time to be helped with treatment.

Mallory’s journey on earth may have ended, but her legacy continues, providing hope and support to so many people.

Mandy Swaner

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.

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As a member, you have the opportunity to communicate your concerns, share your experiences, learn about the most recent advances in Wilson disease treatment and research, and contribute to important decisions that need to be made so the WDA can be a strong patient advocacy group

WILSON DISEASE ASSOCIATION

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