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Health and Wellness

My Story On Living With An Orphan Diease

I may not look sick, but turn my body inside out, and it will tell a different story.

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My Story On Living With An Orphan Diease
Alexis Shears

As a child, I was sick. I had everything possible you could think of that a child could get. It never changed. I was in six grade, on the rock wall in gym class when I first noticed something was wrong. I started to feel dizzy and I saw that narrow black tunnel with the static white dots when I tried to mumble the words " I don't feel well" to my gym teacher; I passed out before I would finish the sentence. The Cardiologist told me I would grow out of it but increase my salt intake and water. I never grew out of it. It only became worse, with consistent fainting. I then became diagnosed with IBS by one of the best gastrointestinal specialist around.

Fast forward a couple years later; I was getting worse with more symptoms that didn't add up to cardio or gastrointestinal problems.I got infection after infection, and every time I went to the doctor, they said there was absolutely nothing wrong. He had his laboratory tests, which always came back normal. All I had were my symptoms, which I could describe, but no one else can see. I know it sounds silly, but you have to find a way to explain things like this to yourself especially when your parents started to believe there was nothing wrong with you. And so I thought maybe I was just going through changes in my body. Maybe this is what it's like to becoming a women.

Then the neurological symptoms started. I started to get these shock like zaps in my head and sometimes I would find that I couldn't even tell you what a color was or say a simple word to you. I saw every kind of specialist: infectious disease doctors,dermatologists,endocrinologist, several different cardiologists, and even hematology/ oncology doctors when my blood test was red flagged with leukemia and lymphoma but simply cleared up on its own three weeks later. And every time they brought in the psych unit because they all thought I was making it up because nothing showed up on EEGs,EMGs, Blood tests, or scans except the table tilt test and heart monitors, showing that I now had POTS (Postural Orthostatic tachycardia Syndrome).

Those shocks started to become worse. Little spasms in my fingers or toes that would make them twitch uncontrollably.Which then started to happen on the side of my face, making it look like I had a stroke. They were so painful I would scream and cry, all I could do was hold wherever it was happening at and hope it would go away. Not one doctor ever saw me have these shock like spasms except for one. The one doctor who believed me. She knew that I had something biologically wrong, but she couldn't pin point it. I then had my first heart procedure done; Seven hours later, they couldn't fix it. He said that I have more than just a heart problem and I was being sent to a Electrophysiologst / Autonomic Disorder doctor out of state. My life changed while waiting to get in.

I started to have seizures that would leave me paralyzed for hours or days.Having to each myself how to walk all over again every time it happened. Shocks that would go down my spine or left arm making it seem like I was having a heart attack. But the EEGs never showed that my seizures were coming from my brain. I couldn't attend school at this point, which forced me to become a homebound student. I lost function of my left hand, therefore I could not write or draw anymore like the artist I was. I lost the majority of the friends that I had. When you make plans with people and have to cancel over and over again, it begins to dwell on that friendship because they don't understand what it is like to be this ill.

If you're a women, you are told that you are exaggerating your symptoms and you are just simply faking it, but if you're a guy, you're told to be strong, to buck up. And men may even have a more difficult time getting diagnosed. I finally got diagnosed after many years of Doctors telling me nothing is wrong with you or the simple statement of "I don't know" with something so rare and incurable, that my heart sank but I was a little relieved to finally put a name to this .I was not only diagnosed with Dysautonomia but Aggressive Systemic Mastocytosis.

It is called an Orphan disease as the global prevalence is estimated in the order between 1/400,000 and 1/250,000. It is an abnormal accumulations of mast cells (cancer cells but different DNA) in the skin, bone marrow, internal organs ( liver, spleen, gastrointestinal tract, lymph nodes, etc) They simply multiply and then "explode" or divide creating more mast cells in your body. They have only recently started to begin research but they found that the genetic alterations (mutations) resulting in the over-activation of the receptor for mast cell growth factor (KIT) have been identified in the abnormal mast cells in most cases. The most common c-kit mutation in mastocytosis is D816V and is believed to cause the abnormal proliferation and accumulation of mast cells in tissues. These mutations are somatic in nature and therefore are not passed on to the next generation in most patients.

The release of mediators produced by mast cells, such as histamine, heparine, chemokines, cytokines, leukotrienes and prostaglandin D2 among so many other cellular mediators, result in episodes. Histamine is a natural chemical, which is in literally almost everything, especially food. Only recently in the past couple years I have become highly allergic to tomatoes because it has histamines in it, but if another person has masto they could eat tomatoes perfectly fine. Light, sound, weather, smells, fabrics, shampoo, makeup, drinks, food, even medication can cause me to go into what I call a masto attack.And that's not even half of it. Every patient is different and everyday day is different.

Urticaria pigmentosa lesions, which mine look like I was burned by a cigarette and starts to expand day by day into what it looks like to be ring worm on my upper thigh then simply vanishes. The intense release of mediators including syncope, recurrent flushing, gastro symptoms, pain, organomegaly and organ dysfunction, impairment of hematopoietic function (which is why my red flagged blood test cleared up weeks later), bone pain that can turn into the form of osteoporosis with the risk of easy fractures and malabsorption. The list can go on and go. I constantly have headaches, but it isn't a headache in the back of my head. It is what is called a coat-hanger. The lack of oxygen and blood flow to my brain. The most serious complication, fatal anaphylactic shock which I have become very close to this. This Christmas was an almost fatal shock because of a little tomato paste that I didn't know was in the food I ate.

My brain is not what it used to be. My life is not what use to be. I have to watch what I eat, I cannot have the majority of medications, even Advil, Caffeinated drinks make my body become as if I was drunk, making me go into a masto attack. If a woman had to much perfume on, I could go into a masto attack. Every time I go out its a risk, a fatal risk, but I cannot let it make me stay inside.

Here's the good part: despite everything, I still have hope. So many diseases were once though of as psychological until science uncovered their biological mechanisms. Patients with epilepsy could be forcibly institutionalized until the EEG was able to measure abnormal electrical activity in the brain. Even recently, we used to think that stomach ulcers were just caused by stress, until it was discovered that H. pylori was the culprit. SM has never benefited from the kind of science that other diseases have had, but that's starting to change.

What also gives me hope is the resilience of patients. Online we came together, and we shared out stores. We devoured what research there was. We experimented on ourselves. We became our own scientists and our own doctors because we had to be. And slowly, I became to somewhat understand what my body was rejecting and what to stay away from. And if I have a flare up; what to do. I still to this day have to make ridiculous choices: Will I take a shower today and take a nap after or go out and have fun for hours knowing it will cause me to be bedridden for a couple of days after. But it gave me hope. I had a sick body; that was all. And with the right kind of help, maybe one day I could get better.

I have filled the void with something wonderful, but it is not enough. I still don't know if I will ever be able to run again like I used to, or do any kinetic things that I now only get to do in my dreams.I don't even know how long I have, but here I am today,with you, and that is a miracle. I am so grateful for how far I have come, even though I have had some terrible days, some to close to comfort. Progress is slow, and it is up and it is down, but I am getting a little better each day. I have not let this take over my life, I have simply learned how to work with it, around it. This is only a fraction of my story and I am going on year three trying to get into one of the best doctors who focuses in hematology, especially mast cell disease; there is only a few who do. I have finally decided to share some of my life with you after years of keeping it somewhat a secret,in case you are struggling with the same or something similar. Do not give up, because you are not alone. I may look like a healthy but very tired girl in her 20's but my body is sick; that's all.

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This article has not been reviewed by Odyssey HQ and solely reflects the ideas and opinions of the creator.
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