Finding Career Motivation in a Rare Disease Diagnosis | Cure Rare Disease
Written by Katie Kuhl; Read the original post here.
My name is Katie Kuhl and I am a junior in high school right now. I am mostly focused on school and am involved in the math team, DECA, pre-med club, student council, and volunteering at my local animal shelter (pre-COVID). I’ve also rediscovered my love of reading lately. Outside of school-related activities, I enjoy doing calligraphy.
In terms of my future, I found the inspiration for my future career in a variety of places. First off, in my eighth and ninth grade science classes, there was a short unit on genetics, which I found so interesting. Additionally, there is a rare genetic condition in my family called Ehlers Danlos Syndrome. It took about two years for me to get a diagnosis but I was diagnosed with hypermobility type Ehlers Danlos Syndrome (hEDS) when I was 13. At the time my symptoms were intense knee and hip pain, breathing/exercise issues, and circulation issues, but we’ve come to realize that a lot more of my medical quirks can be attributed to my EDS and related conditions (POTS, Scoliosis, and Raynaud’s Syndrome). Since my initial diagnosis, we’ve realized that almost everybody who is related by blood to my dad’s side of the family has symptoms of EDS. Of the six cousins, three of us have either been formally diagnosed or are almost 100% sure we have hEDS, two have symptoms of hEDS, and one has symptoms of vascular Ehlers Danlos Syndrome (vEDS). My dad has hEDS and two of his three brothers have symptoms of vEDS. I find it so interesting that a change in DNA can lead to such an array of symptoms that don’t seem to fit together.
In college, I plan to study genetics on a pre-genetic counseling track (both are hard to find at a college so I’ll most likely end up with one or the other) and then go on to get my master’s in Genetic Counseling. My condition definitely influenced this choice for me because I think a genetic counselor could have helped some of my relatives so much and I would love to be that person for another family. The world of genetic conditions can be so confusing and the Internet only serves to exacerbate worry and confusion so I feel like a genetic counselor is kind of the grounding force amid a new diagnosis.
Overall, I’ve been very lucky with my condition because it is manageable with daily physical therapy and drinking a lot of water and I definitely don’t experience the symptoms to the degree that a lot of others with hEDS do. So far the only challenges I’ve really encountered have been physical limitations and the need to speak up a lot more in school when I needed accommodations.
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