“Hi, I’m K, I’m a 19 year-old male, it’s nice to meet you!
I was originally diagnosed with a bunch of stuff as a child after I had a myriad of issues. At 19 months old I got Guillain Barre Syndrome, leading to months of hospitalization. Thankfully, baby me prevailed, and after lots of rehab, I got back to being a kid. I got diagnosed with “Unspecified Spinal Cord Disease” in my late teens, and for years it was a whirlwind of “everything is not working right and we don’t know quite why.” Finally after reviewing genetics I was diagnosed with Adult Mitochondrial Disease Type TK2d. For those who don’t know, TK2d, or mtDNA deletion syndrome, is an enzyme deficiency in the enzyme TK2, which makes and repairs mtDNA. It mainly manifests in muscle weakness to severe degrees, and is most often life threatening, especially in children. I was diagnosed after many rounds of genetic testing, years of wondering and misdiagnoses, and thousands of clinical visits. I was also diagnosed with Ehlers Danlos Syndrome and POTS when I was 16 after a multi-year long waitlist for the UVU Specialist Clinic. My biggest struggles are probably the loss of spinal stability and ability to walk, gradual decrease of my vision and hearing, dysphagia, breathing struggles, and recurrent infections, leading to surgeries, tube placements, line placements, etc. All in all though, it was both a devastating and also liberating thing to have finally known what it was and learn to change my outlook on life, and where I wanted to go with it. Shoutout to my amazing fiancé, who has never not been by my side through the whirlwind years, and shoutout to my friends who helped me leave behind traumas and get back to who I am. Ultimately, I’m proud of who I am becoming as an adult, and I strive to learn to better myself physically, mentally, and emotionally. It’s been a long road, but that’s okay, because I’m learning to appreciate the scenery.”
