The story of Jessica
I have always heard your teenage years are the hardest. If I had only known how horrific they would soon become for me I would have enjoyed the little moments we all take for granted, just a little more. Like the family gatherings, favorite movies with friends & family or just times I could run, jump and play like a normal child. Most of all I would have spent a lot less time worrying about things I had no control over and just lived, more than just existed, lived. I would have worn my favorite outfit without fear of ridicule and I would have picked my favorite color without influence from peers, taken that second cookie or ran one more time through the yard catching lighting bugs while I still had the strength to do it. With any disease the shock after diagnosis can be mind boggling but when it’s a rare disease people have never heard of, it can be difficult to explain and people often accuse you of exaggeration. There is no need for exaggerating, the symptoms of my disease are horrific enough as it is. It’s important to remember that every patient is different and the disease progresses differently for each person as well. Sometimes telling your story helps you feel “not so alone”. It gives you a voice often unheard or genuinely understood otherwise. One of the happiest moments in your life is when you find the courage to let go of what you cannot change. I cannot change my diagnosis, I can’t “just get better” but I can raise my voice and be heard for that small chance someone just like me needs to know, that they are not alone.
My rare disease affects less than 3000 people in the US. It abruptly occurs before age 15 and I was right on schedule! Many trips to the ER with no answers, test after test, a miss diagnosis and then ending up in critical condition before I got a referral to a specialist. After first being diagnosed by a local Dr. and then an Endocrine Doctor in Toledo Ohio, Nationwide Children’s Hospital in Columbus Ohio gave me my third and Fourth diagnosis. It was official, I had a definite, unmistakable diagnosis. I have a rare neuromuscular disease called Hypokalemic Periodic Paralysis. One person in every 100,000 people will have my disease. So support from my friends and family is vital. Sometimes people don’t understand what I actually go through and it can be difficult to educate people about my rare disease. People often make the comment that “I look fine” so I must not be sick…but being just a child, I guess my only question is “What does sick look like?” The condition is caused by a defect in the CNA4A gene. It is congenital, which means it is present from birth. I have regular bouts of tachycardia with my heart rate nearing or over 200 beats per minute. My legs will shake uncontrollably from weakness as my potassium levels drop. My potassium has been as low as 2.1 during an attack and it causes nausea and vomiting. I have been placed in Critical Care while in the hospital to get my attack under control. There is nothing minor or pleasant about it. The ability to use my muscles becomes hindered during and after an attack. It’s a weakness like no other. No amount of rest seems to cure the weakness this disease leaves behind. My muscles will continue to remain weak for days after an attack has subsided. Heart arrhythmia is possible from the loss of potassium as well as the need for intubation should the diaphragm become paralyzed during an attack. Any muscle in my body can become paralyzed due to the lack of potassium in the blood. Attacks cause severe weakness as well as severe paralysis that usually lasts many hours but can also last for days. These attacks come out of nowhere with usually no warning other than a headache for me and the symptoms linger like a black shadow in my everyday life waiting to make its attack on my body once again. It is possible to wake up in the morning completely unable to move or even open your eyes but you can hear everything around you. You’re essentially trapped.
A genetic defect causing my potassium to be “sucked into” my muscles and out of my blood stream quickly, sends my heart racing. The defect in muscle ion channels leaves my muscles stiff, swollen and unable to move once the potassium has entered. Although not much can be done to prevent further attacks including taking potassium supplements daily (but I still take them, treat them as if they where rare diamonds, always have an emergency dose with me to prevent my heart from stopping ) and there is no cure for my disease at this time, it’s nice to have a diagnosis, a plan and to know that I will not travel this road alone. Karate is a constant in my life. A therapy not only for my aching, weak muscles but my mind. Even when I can’t do what I once could, or train as hard as I should be, I turn to it to lead me through the darkness. It’s the one thing I could not give up.
I continue to struggle daily and I recently had another attack which also resulted in injury for the first time. I have woke up unable to move my arm and I have had days when I could no longer wiggle my toes. My right side is becoming weaker and slower and my right arm shakes when I try and use it. You see the more times you have an attack the muscles can be left with eventual permanent weakness that is not reversible. The muscles in my legs, hips and back ache without end but I will not give up. Paralysis can only be compared to “being a prisoner in your own body.” My legs swell and I’m completely and totally exhausted. I have had to limit my activity and learn to pace myself. I am still attending school and plan to keep going and trying to be as normal as I can until I can no longer tolerate it. I am on a new medicine which is high dose and so far the only side effect is This isn’t how I imagined my first days or months of being 15 years old but I will fight like a girl and proudly say “I am a zebra.” I have hope for a bright future and I wear my disease proudly! My parents and sisters have been my biggest supporters. I have a great group of friends and classmates who understand and are right there with me as my family and I travel this road I call Jessi’s Journey.