My name is Stephanie Chicas. I am 29 years old. This is the story of how recurrent lung infections and one traumatic day prompted me to start taking life one breath at a time. I was born full-term and showed no signs of distress or abnormalities, yet as I grew, holding my head up and crawling came with great difficulty. As I started walking and used more physical energy, I lost weight easily. I had difficulty chewing, swallowing, keeping on weight, and running. I fell a lot. In grade school, the family doctor hassled my mom about not feeding me enough or not focusing enough on my development. The pressure from them to eat more was the beginning of my stress. I felt anxious, worried about my body. I couldn’t understand why my efforts to get better weren’t working. My mom fed me whatever she could get me to eat, along with nutrition drinks. I was bullied in school when I couldn't keep up with the kids in gym class. I was hard on myself, often questioning myself. No one believed how hard I tried or what I physically felt.
It wasn’t until age 10, when I began to experience occasional shortness of breath, fatigue, and daily headaches when I woke up, that I got my first medical diagnosis: scoliosis and kyphosis. Many people think a diagnosis will give you a doomsday feeling, but I was relieved. I attended physical therapy, but the S- and C-curves started to progress. It was then at 12 years old that I was fitted for a back brace which I used for a few hours each day. It was very uncomfortable; its a hard shell pressing against my small frame which had very little body fat, squeezing my bones and making me itchy. It was the orthopedic doctor's suggestion that I start to wear the back brace at night, which was the trigger to the traumatic day to come.
One Saturday morning I woke up with vertigo and dizziness. I was pale and couldn’t breathe. I knew something was wrong, but after so many years of feeling bad, and being accustomed to people not believing me, I thought the feeling would just go away. I showered only to find myself more exhausted, and symptoms worse. My body grew cold and my fingers started turning blue.
My parents rushed me to the car. Sitting in the passenger seat, I leaned against the window trying hard to breathe deeply, but all I could do was take fast shallow breaths. I was anxious, but too weak to talk. Any movement made me feel dizzy. I looked up at the clouds asking God to help me breathe and get help soon.
I was taken to the trauma center. When you grow up not getting the help you deserve, it’s a relief to be there, even under these circumstances. The last sight I remember was being on the hospital bed in an emergency room and the oxygen mask being placed over my mouth. Unbeknownst to me, this was the start of a two-month stay in patient care.
I woke up to a breathing tube down my throat, IVs, and other wires that consistently checked my body's stats. Over the next several weeks, I was diagnosed with pneumonia, had the breathing tube removed, struggled to breathe again, was subject to sedatives, antibiotics, got appendicitis and subsequent appendectomy, and then got tests for muscle function and immune disorders. On October 27th—two days before my thirteenth birthday—I underwent my third operation. I came out of the surgery with a hole in my neck, a trach tube, and connected to a breathing ventilator. Unable to speak from the intubation, lack of energy, and now the tube directly in my neck, I communicated by writing in a notebook. I expressed the pain, anger, sadness, confusion, and joy that I was feeling.
All I remember is the first steps after that surgery like it was yesterday. They were the hardest of my life, requiring a team of people: One to maneuver the wires and tubes attached to me, another two to lift me, and my mom to motivate me. My whole body felt heavy, and while in my mind I knew how to walk and move, my body wasn’t cooperating like I wanted it to. That walk was worth it because it was the first time in months I got to hug my little brother. Over the next two months, I regained the ability to talk, eat, drink, and walk. The tracheotomy was extremely painful and I required 24/7 breathing assistance, but I was cleared to go home, where medical supplies, new equipment, and round-the-clock assistance would welcome me to a new life.
Home looked the same, but I felt completely different. My room was now on the first floor and filled with all the things I needed for my medical care. I had nurses helping, frequent doctor and therapy appointments. I started homeschooling which continued for the rest of seventh grade.
And finally, another two months later, we received a diagnosis for the cause of the decreased respiratory function and muscle weakness: Muscular Dystrophy. Four years later, we learned the specific gene mutation: SEPN1-congenital myopathy [now called SELENON]. And while it feels good to know what caused all this, it also raised more questions and confusion. Being diagnosed with a rare disease comes with confused doctors, little research, no treatments, and no cure.
Sixteen years after my diagnosis, I have a life that I did not imagine. My symptoms now include fatigue almost every day that does not go away with a good sleep schedule. I experience migraines that can be so painful that I'm crying the pain away. Muscle pains that have changed my lifestyle. Digestive issues have made me change my diet. Shortness of breath which requires more ventilator use. I make sure to complete therapies and check up with doctors every month. It feels like a full time job. It has taken time to adjust and always will be as it goes with rare conditions. There is a lot of curiosity in wondering what the possibilities of my conditions hold. I could be bedridden one day in pain or I could go for a long walk outdoors. I never know how my day will go so I take it one breath at a time.