Fabry Disease

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Fabry Disease
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    Christie Ray

    How to Explain Fabry Disease to Others

    A friend asked me to explain what it felt like to have Fabry disease. How do you describe a rare genetic disease that impacts each patient differently? I explained that we do not sweat, our extremities have poor circulation, and changes in temperature could trigger extreme pain crisis. Still, these symptoms are just part of what it is like with Fabry’s. When chronic illness is due to a genetic disease that is vascular, walking through your day is different. My children’s days are different too. It’s like walking on a treadmill. In our world, each of us walks on a different treadmill every day. My oldest son’s treadmill is probably the one Olympic athlete trains on. It is on a steep incline and requires a lot of muscle to push through the day. My younger son’s treadmill is less steep — or that is how it appears to me. He is extremely good at pushing that treadmill hard and getting it to move at a running pace. My treadmill is set at a mid-level incline. It changes daily, like all of our treadmills do. Mine is the one that changes the most, depending on the demands of parenthood and on being the parent with a genetic disease. Those are the days when my treadmill is set on a steep incline and I am climbing all day. Of course, there are also days when I don’t have to get on my treadmill at all. Writing or drawing or reading a book does not involve any kind of treadmill. I have had Fabry’s disease for my entire life, and at 51, I have learned how to accommodate and keep myself comfortable. My children do not have the luxury of accommodation. They must go to school and then follow up with homework. They are young and anxious to keep up with their friends in every way they can. The modern world and the internet has helped tremendously with easing their time spent on their treadmills. Awareness and understanding from the adults and friends in their lives has helped lessen their treadmill levels too. Truly, awareness is the key to all of our treadmill levels. The fact that one disease can impact three people so differently is always so startling to me. We are all goal-oriented people. Our bar is set high. We do not let Fabry disease define who we are; instead, we live our lives and try not to let it slow us down anymore than necessary. Like everyone with a chronic disease, we try to live our lives with our treadmill set on “normal.” I am a true believer that with the help of science and medicine, we will achieve that goal one day. I hope it will be in my lifetime. We want to hear your story. Become a Mighty contributor here . Getty Images photo via FedotovAnatoly

    Christie Ray

    What It Feels Like When Your Child Inherits Your Illness

    I thought I was prepared. I knew the odds. I expected that the dice would win. Hold my breath. Pray every moment of every day. Wait for what feels like forever. Dear G-d, please let it be negative. How will I cope if the answer is positive?The answer came to me on the first night of my honeymoon, a night most couples spend in romantic bliss. I cried myself to sleep in the arms of a caring and loving man.He did not blame me. I blamed myself.He was thrilled to be the father of a son. I was sad and terrified at what a positive Fabry diagnosis meant, because I live with it myself. The sun rose the next morning and I was still me. The baby inside of me was the same child that had been there yesterday, only now I knew his future. The tears welled up inside of my heart. I had failed him. I had failed everyone.I was not prepared for these feelings of failure. Seventeen years later, I do not feel failed.I am not failed, neither are my sons. I have rolled the dice twice, and both times the dice won. I am the winner. Fear did not win. The tears you cry because the news is not what you expected — those are fine tears to cry. Cry them. You will need to make room for the strength needed for the hard days that come. The days when your child is in pain or when others do not understand the disease. The days when you fight to keep up or fight to make life normal. The Tough Love days of saying “yes” to the nurse when they ask permission to look for a vein in your child for a third time. Cry the tears now so you have room for the strength you will need to get through the hard days. When you are in those hard days, the marathon days, and there is no finish line in sight, love your child and have a friend or a coach to love you. I cried a thousand tears of pain at what I thought I had done. I understand now that those tears were just making space and building muscle for the strength I would need on the hardest days — the way all mothers need strength on hard days.I am blessed with the perfect boys who were meant for me. I have cried a thousand tears of pain.I have cried a million tears of joy. We want to hear your story. Become a Mighty contributor here .

    Christie Ray

    When You Perceive Me as 'Difficult' Because of My Illness

    I’ve never wanted to be “difficult.” Never. Everyone around me has always had more energy, more “Yes! Lets go do that!” than I have…If a group of people were hiking up a hill, I was the last person to reach the group. The group would be tired of waiting and they would start hiking as soon as I reached them – I never got to rest. Eventually I would say “no” to hikes up mountains, to ski trips and to picnics in the park. I didn’t want to hold people back and I didn’t want to be seen as difficult. I hated saying “no.” I hated being difficult. But as time went by, that was my label: “Christie is difficult.” I once traded Yankee tickets that were on the field over the Yankee dugout for lesser tickets because they were in the shade. I was so grateful to that family for giving me their seats. My boyfriend at the time would not trade his ticket and my family was furious with me for ruining their family baseball outing. They didn’t understand that my children and I could not sit in 85 degree heat and humidity in direct sun. Again, I was being seen as difficult. The thing is, I would never have put my boys or myself in that situation. I would not have gone to that game given the weather, but I didn’t want to be difficult, so I went. Yet, because I had to take care of myself and my children I was dubbed as difficult. The hardest part of having a genetic disease that is invisible is that even your family will forget that you have it. They can understand fear, infusions and medical explanations, but they cannot understand what it is like to live day-to-day with an invisible, chronic illness. They do not understand that when you are being “difficult,” you are really trying to make sure that your children are safe and not in too much pain from heat and sun. People you love do not understand that when you opt out of a picnic on a beautiful day, it is simply because you are afraid of being perceived as difficult. I know that you are reading this and it is probably something that you cannot fully understand. That is OK. Just know that my writing it down for you is my way of explaining that I don’t want to be difficult, I want to be understood. So I leave you with this question – the question that always seems to drive my point home when discussing my boys with their teachers. It isn’t, “How sick are they?” It is, “How is it that they look so well given how sick they are?” For anyone who has ever felt “difficult,” I want you to know I understand that it can be a lonely feeling. There is nothing wrong with taking care of yourself and your children. We simply need to learn how to tell the people who love us that we aren’t difficult, we are just different. We want to hear your story. Become a Mighty contributor here . Gettyimage by: artant

    Christie Ray

    What It's Like to Pass Fabry Disease On to Your Children

    Since before my sons were born, I have carried the guilt of passing Fabry disease on to them. I have cried more tears than I believed possible. I understood that Fabry disease would be hard to live with, but I never planned for the guilt. How could I have prepared for that? When my babies were babies and they would cry like babies often do, I would ask myself, “Are you crying because of Fabry’s or because you’re a baby?” When my 4-year-old son asked if he could wear sandals over sneakers so his feet would only hurt “for one step,” I understood that I had waited too long to start therapy. I held back the tears as I nodded my head, “Yes.” He would have to start enzyme replacement therapy. My baby would have to have infusions from now on, until they found a better way. For every infusion I have prayed to God to please find a better answer. I have also thanked God that an answer exists. I carry my guilt with me wherever I go. It is my constant shadow. Finally, I have decided I must release my guilt. It is a burden that I can stop weighing down on my children. I would not have chosen to give Fabry disease to my children, and I do not want different children. Fabry’s is part of who they are, and they are perfect. Today, I release my guilt. I am not guilty of giving this to them. I did not wrap it in a bow and make it a present. It is simply part of who they are, the way it is part of who I am. I love who I am and I love who they are. Releasing my guilt will take the weight off of their shoulders, as they are constantly letting me know “It’s OK, mom.” It is OK. We are all OK. We are beautiful. We are a family. I release the guilt and look to the future. I am full of hope. We want to hear your story. Become a Mighty contributor here . Getty Images photo via SomeMeans