Monday, February 24, 2014

HCU Heroes - Jessica's Story

The following blog post was written by Jessica Karnes about her HCU journey.  I met Jessica in 2011 at the 1st ever HCU Conference in Denver, CO.  Since the conference, she & I have remained in touch as Facebook friends.  She's had a tough road the last few years with broken bones & a terrible fall which resulted in a traumatic brain injury (TBI).  Despite it all, she remains positive, always willing to give advice to anyone about HCU.  I'm thrilled to dedicate one of my Boston Marathon miles to you, Jessica!


The Early Years
 

I was diagnosed with a rare condition called Homocystinuria at the age of 4.5 years old. I don't remember much before I was diagnosed besides I loved chicken. As a child, I was devastated that my life was going to change forever. I soon realized that my life would consist of many doctor appointments and I would be missing a lot of school. I wanted to be normal and did not know how to. 

My diet changed almost immediately. I started taking a formula which had all the amino acids besides methionine. Also I have to eat a low protein diet. As a child, I didn't understand why I was different. Friends would often ask me, "do you want a candy bar?" Until about a year ago, I would quickly respond to this question saying, "I'm allergic." I now explain that my body does not process protein effectively.

When I was about 12 years old, I finally met someone who lived in my state, and also has Homocystinuria. It was very hard to keep in touch because of the distance between us, but I finally realized I was not alone. Around that year, I started going to a PKU Camp in Ohio and realized there are other people who have metabolic disorders, and have to follow a low-protein diet. Throughout the years, between the summers, I often felt like no one understood me. I was constantly explaining myself and answering hundreds of questions. This was overwhelming as a teenager who didn't have a lot of communication with other HCU patients.

When I got to High School, living with Homocystinuria got even more difficult. I soon realized that I could not miss school or I would have to take final exams. I was scared I'd have to miss because of appointments, but lucky for me, a Homocystinuria specialist finally moved to Michigan. I soon realized that I was his only patient, and I did not like the doctor. For the next 4.5 years, I continued to see the doctor who was not very understanding. After High School, my dream was to go college. In the fall of 2009, I enrolled in Spring Arbor University. 

The College Years

Right before my 21st birthday I switched doctors to Detroit Medical Center. I now have a doctor who is understanding, and a great listener. During these years, I had to face many challenges but I am proud to say that I have overcome a lot. My college years taught me that I am learning what it means to be healthy for a patient with a chronic illness. Some of my friends would think you have been dealing with this since you were 4.5 years old, and you're now 22 years old, you should know how to be healthy. I feel so often we get caught up in the motions of our crazy lives and forget to take care of ourselves because we would rather take care of others we love. Learning how to live with Homocystinuria can be difficult and challenging but rewarding as well. 

22 Years Old - A Downwod Spiral

Two days after my 22nd birthday, I fell down a flight of concrete stairs, and 8 months later I was diagnosed with a Traumatic Brain Injury (TBI). Each day was a constant struggle to get up and fight, but I learned how to fight without others questioning that I had a TBI. Back in December 2012, I was struggling with staying within my daily protein allowance, and was constantly hungry. I often felt like I was very ill, and in intolerable amounts of pain. While I was living in Las Vegas, Nevada I had more energy to take care of myself. I was supposed to be drinking 4 HCU Coolers a day, no more than 10 grams of protein a day, and do monthly B12 injections. My time in Vegas was short lived. I was so much better with complying with my dietary restrictions, and did not even crave food I was not supposed to have. I have noticed the days that I have high grams of protein; I often feel like crap and have no motivations. The days I follow my dietary restrictions, I have more joy, I feel that my hunger is satisfied and I feel way better.

Lesson Learned - I Have To Be The Educator

I feel like living with Homocystinuria is interesting. I feel as someone who has Homocystinuria, we are called to overcome and educate the world. Homocystinuria affects 1 in every 400,000 people in the United States. People often stereotype other individuals who have rare conditions because they feel so lonely and feel like they do not have anyone. 

The Support Center Is Key!

Having Homocystinuria doesn't mean you can't live a normal life. It's the power of choosing to live a normal life. I was very lucky to have a great supportive family who encouraged me to live my life to the best of my ability. My best piece of advice is to get involved. Ever since I was a little girl, I was very active in sports and school activities. Here is a journey through some of the most influential people of my life who are my support system. The best piece of advice I can give you is that the most influential people in your life would care about every aspect of your life.

 My Mom is truly one of a kind! She's been the most supportive women in my whole life. 


My Dad is the one who definitely shows me the ropes of living life with a condition. My dad is my superhero. The things that he faced has showed me that I am capable of living a normal life.


Richelle is my best friend forever! She has been there since the very early stages of my diagnosis and loved me through all of my challenges. 


My Spring Arbor Friends Mean The World To Me! They accepted me as me and I would never trade anyone of them for the friendships we have.


If you'd like to make a donation to NORD's HCU restricted research fund in honor of Jessica, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon: 

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