Short Stories Collection

12. The Girl with a Rare Disease (Short-Story)

A girl with an incurable rare disease who overcomes her fears and challenges in life

"When you hear hoofbeats, think of horses, not zebras."

When you hear that quote, you think, "What type of quote is this, or what does it mean?" Well, if you are not familiar with the expression, it means that when a person is searching for an explanation, they should always consider the obvious possibilities before thinking about more unlikely ones. When a patient comes into the doctor's office or even the hospital with many symptoms or signs of an unknown disease, many doctors are taught this quote, which means that doctors should consider the most likely possibility first when thinking of a diagnosis. It has been taught in medical school for many years, and it is still taught today.

What is a rare disease? A rare disease is one that affects less than 5% of the population and is typically chronic or genetic in nature. Did you know there are about 7,000 different types of rare diseases in the world? These diseases can be inherited, caused by a bacterial or viral infection, or even caused by environmental factors such as a person breathing in some type of toxic chemical. Did you know people can be affected at any age by a rare disease, which can be found early in life or later in life?

I am a girl with an incurable disease called Ehlers-Danlos Syndrome, which is a genetic disorder that is a group of hereditary disorders that affect the connective tissues of the body, such that connective tissues provide strength and flexibility to the skin, bones, blood vessels, and other organs. I was diagnosed later in life and wish I had known about it sooner, because knowing I had this rare genetic disease would have made dealing with my current health conditions easier. I would know how to manage my disease with proper treatments, medications, and, most importantly, dealing with my mental health.

My mother knew there was something wrong with me, knowing there was no medical history. She noticed how I began to become injured, with some obvious injuries such as a broken foot or arm. I had multiple unknown bruises and fevers, passed out randomly at times, and many more things that were uncommon for my age. As a child, I participated in multiple sports, such as swimming, soccer, gymnastics, and running. My injuries and health have deteriorated over time. We decided to get checked out because of the long list of symptoms and signs of an unknown health condition. Over the years, many doctors have diagnosed me with mental health problems and said things like "it's in your head" or "you just spend lots of time online looking for an excuse for attention." No doctor or specialist listened to me, so I took it into my own hands and did my own research and found out that I have the same signs and symptoms of Ehlers-Danlos syndrome, such as stretchy skin, easily bruised, headaches, joint pain, disclosing joints, and, of course, doing weird things with my body, easily causing pain.

As an athlete growing up with a rare disease, I learned many things, such as proving to myself that I can do anything that I put my mind to, such as becoming a very talented and fast swimmer. I learned how to take care of myself by having to go to multiple doctor's appointments, treatments, and medications. I learned that people just want to be my friend because I get some perks, like handicapped parking, getting out of class early, having drinks and food in class, and so on. My mental health wasn't so good during my high school years with balancing my health, school, and dealing with people's bullying.

As an adult, I have become an advocate, helping others with health conditions, mental illnesses, and my own rare disease. I decided I wanted to become a special kind of nurse who helps people get proper medications, treatments, and the right doctors. I also wanted to help people advocate for others and themselves. I am a writer and a photographer who brings awareness to chronic illnesses, mental health illnesses, service dogs, and, of course, rare diseases. I use my writing and photography to help people bring awareness through their writing, such as by writing multiple novels, helping people get the answers they need, expressing themselves, and showing the story of their own fight. I want to create an organization to help people with chronic illnesses, mental health illnesses, service dogs, and, of course, rare diseases. I hope someday I will become a Paralympic swimmer, a published author, a professional photographer, and a nurse.