MCAS Q&A -

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MCD Q&A How do you define MCD? The term Mast Cell Disease (MCD) is an umbrella term. Under this, it includes two rare, typically progressive diseases, Mastocytosis (cancer of the mast cells) and Mast Cell Activation Syndrome (dysfunction of the mast cells). In both illnesses, you have mirroring symptoms and treatments. I’ve personally been diagnosed with Mast Cell Activation Syndrome… commonly called MCAS. A mast cell is a type of white blood cell that is produced in the bone marrow and is the first line of defense for your body’s immune system. They can be found in the connective tissue throughout your body. They’re most prominent in the bone marrow, skin, gastrointestinal tract, and airway. Mast cells contain granules that hold powerful chemicals called mediators. The mast cells can erroneously release these powerful mediators causing an array of severe and debilitating symptoms. Some of the most common mediators released are prostaglandin, histamine, leukotrienes, and tryptase… but there are literally over 1000. The treatment for MCAS, or mast cell disease, is specific to each person. When the mast cells become broken, they erroneously dump the powerful chemical mediators into the bloodstream. There is often no warning. Sometimes there are known triggers but often it is “idiopathic” or caused by no reason at all. I have Idiopathic Mast Cell Disease. This means I can go into a flare anytime for any unknown reason with little to no warning. These mediators start a cascade of reactions that my body can not stop. I have rescue medications that I have to take immediately but the effects can be very debilitating. Sometimes the meds don’t work. That requires a trip to the ER. Unfortunately this happens often and it’s very unpleasant. They can administer the rescue medications through an IV and stop the flare. This is just a small part of what my life with MCAS looks like and is similar for a lot of people who have it. MCD Q&A How does MCD affect you? Mast Cell Disease has quite literally affected every aspect of my life. I struggle the most with mast cell attacks, as I mentioned above. Unfortunately, this usually happens between 2-4 AM. The attacks typically start with me waking up with an awareness that I am very sick and quickly becoming worse. Excruciating abdominal pain and bone pain starts along with a cascade of cardiac symptoms. Eventually, I lose my vision and my body will go numb. This all happens within a two-minute window and if my rescue medications are not administered fast enough, or if the medications are not effective, there is nothing that can be done but go to the hospital. When I arrive at the hospital they can administer medications intravenously to stop the cascade. Along with MCAS, I developed a secondary condition called Dysautonomia. It is very common to have Dysautonomia if you have a Mast Cell Disease. Dysautonomia is the dysfunction of the autonomic nervous system. The autonomic nervous system controls every bodily function that you don't have to think about. Some examples are; blood pressure, heart rate, consciousness, GI motility, pupil dilation and constriction, sweating, body temperature regulation, coordination, and memory. In my case, all of these functions either don’t work at all or work very poorly. When these symptoms began to present themselves they slowly became worse and worse. At one point I got so sick I couldn’t go to school. I couldn’t even get out of bed without passing out. This started my long journey for a diagnosis. Eventually, my body was no longer able to handle physical activity without landing me in the ER. Day to day, most of my time is spent doing school work and managing and controlling my symptoms. From waking up in the middle of the night sick, to preparing food for my limited MCD Q&A diet, it all revolves around my health and trying to keep me out of the hospital. Managing a chronic illness doesn't end at the diagnosis and the beginning of treatment, it’s a lifelong responsibility. Wherever I go I have to be prepared to manage and anticipate possible problems, this is something that doesn’t become easier. I’ve had attacks while on airplanes, at school, while riding my horse, and hiking in the middle of the mountains. This disease has taken a lot from me and my family but it also caused me to lean on my faith. I found hope and courage to fight this disease. One of the Bible verses which changed my outlook on my situation was Isaiah 41:10, “fear not, for I am with you; do not be dismayed, for I am your God. I will strengthen you; I will uphold you with my righteous right hand.” God has shown me so much grace and has led me through this difficult journey. He has been there in the darkest of moments and provided comfort when I felt lost and alone. He’s walked by my side through all the hospital admissions, ER visits, doctors appointments, and endless testing. He has shown me what it really means to be a Christian; to hold firm in faith even when the ground you walk on is unsteady. It’s easy to ask God “ why me?” But why not me? Everyone carries burdens. Some just look different. Life is full of ups and downs. My story and my journey are unique to me but not to life. I can relate to those who struggle and suffer. My disease has allowed me to understand the complexity of human conditions like severe anxiety, deep physical pain, hopelessness, isolation, emotional pain, exhaustion, and most importantly...the ability to relate to those who also just suffer. This disease has fundamentally changed who I am. Ongoing physical pain does that to a person. I have lost a lot, but I have also gained a lot too. My close friends have rallied around me. They are deeply protective and have walked this path with me. My family has been the most supportive a family could be. My parents always believed me… especially in the beginning when no one knew what was wrong. There were so many misdiagnoses. But my family kept MCD Q&A looking for answers and they always fought for me. They found doctors all over the US and no place was too far. My mom and dad have been right there every step of the way. That’s how I found the help I needed. Rare diseases are hard to diagnose. The average person takes 7 years to get a MCAS diagnosis. I hope to bring awareness and education so others know there is help. What’s an average day for you? No day is ever the same. Each day is unpredictable. Some days are miserable. There are days I have such severe abdominal pain, nausea, and exhaustion that I can hardly get out of bed. My medications have a lot of side effects so it can become tricky to treat my symptoms on bad days. But some days I feel good and life is easier... I am so grateful for those days. I have a lot of doctors and specialists. This means a lot of appointments. I have an Immunologist Dr Anna George here in The Woodlands who is amazing. I get a special injection every two weeks in her office to actively treat my MCAS. She helps to manage my illness day to day in conjunction with the other specialist. I have a Pediatric Gastroenterologist Dr Baraa Alrazzack in Cypress. He listens closely to me and always finds options. I have two pediatric cardiologists, Dr Henry Burkholder in Houston and Dr Amer Suleman in Dallas. Dr Burkholder never gave up on me and encouraged me to hang in there and promised me he would find out what was wrong. And he did. There was a time in the beginning, when multiple doctors were managing me in the hospital, and I was given a lot of diagnoses that turned out to be false. I was even told that I was not really sick. My mom promptly fired all of those doctors, then she called Dr Burkholder. He is the reason I was correctly diagnosed and the reason I never gave up. He always believed me and was dedicated to me as a patient and a person. I owe so much to Dr Burkholder. Dr Amer Suleman specializes in treating people with Dysautonomia, as well as EDS MCD Q&A (Ehlers Danlos Syndrome), Lyme Disease, and vascular disorders, to name a few. He is widely known for managing the debilitating effects of Dysautonomia and bringing people back to full function who have given up and been told there is no hope for recovery. His commitment to this very complex disease is unwavering and he will not stop until there is success. I also have a Neurogastroenterologist in New York City, Dr Julie Khlevner. She is with New York Presbyterian and Columbia Children’s hospital. She is very specialized in the management of the GI dysfunction that can occur with this disease. Last but not least, I have been working with the wonderful and renowned Dr Lawrence Afrin in New York. He is the world’s foremost expert in treatment and research for MCD. He has worked tirelessly to help clinically diagnose me through a lot of testing and multiple trips to NYC. He has developed a treatment plan so that we can stabilize my illness and lead a mostly normal life. Mast Cell Disease can be very hard to diagnose and even harder to treat. We have a long way to go, but we are getting closer. I am getting my life back. And it’s wonderful. After being gone and attending online school throughout this long journey for a diagnosis, I am very excited about returning to school at The Woodlands High School this coming fall, for my Junior year. Some days can be a challenge but I know I have my faith, my friends, my family and an amazing team of doctors who care about me. My future is looking bright and full of hope. I have big dreams and plans for college and a lifelong commitment to helping others along the way. I will fight the fight that I have been given, for those who believe in me and for those who need to believe in themselves. We can do hard things. “God is strength and power: and He makes my way perfect” -2 Samuel 22:33.