This speech was written and read by Liam Kruesi at an event for genetic counseling students at the University of Pennsylvania on September 6, 2023. FARA hosts events like this to share the patient perspective with future healthcare providers.
Unfortunately, I wasn’t debriefed about my having this particular disease before experiencing symptoms, because if so, I would’ve become better at video games as a child. But, having not gotten the memo, I had developed quite the sports career a child could manage. Between basketball, soccer, baseball, football, swimming, and my favorite, wrestling, I had constructed this personality around my being an athlete. As it was what others saw of me, it became what I appreciated out of myself the most. To clarify, this was perfectly healthy––I’m not proposing to you that I had become some kind of an egomaniac in middle school, but it only made what was to come all the more devastating.
In 7th Grade I placed 2nd in the school district wrestling tournament and 2nd in the NJ state wrestling tournament. As you can imagine, the kid in 1st place was a common character and probably my least favorite person ever. And then, like a wave crashing, my symptoms began to prominently reveal themselves. Inevitably as they always would, but the reason was still unbeknownst to me as my diagnosis was still seemingly eons away. My 8th grade wrestling season became something of an inverse highlight reel for me and a broadcast of my newly developed horrible coordination and muscular fatigue. At a certain point, I began to theorize this was the doing of some sort of faceless cabal, some conspiracy set out to humble me like what happened to Ebenezer Scrooge––the ghost of wrestling-seasons past! The legacy I had created as the 2nd best middle school wrestler in New Jersey’s class of 2013 began to wash away, deforming my self-image as the sand fell away.
Despite my attempts to insert humor here, this feeling is so much more demoralizing than being alone or even alone in the pragmatic sense. Because even after I was diagnosed, it was kept hushed and the vicious remarks hurt the same as the innocent ones. Being normal seemed so close yet so far, and as far as the results, my attempts always took the latter. Recalling an essay I had written while lamenting my lot, a suspicion arose, “I [felt] like I [was] dying in front of everyone.” The feeling of all that I am or ever will be, is withering away. It’s a feeling encapsulated perfectly in an excerpt from a poem titles 14 Lines from Love Letters or Suicide Notes by poet Doc Luben:
8. I came home on Tuesday and found all of the chairs that I own stacked in a tower in the center of my kitchen. I don't know how long they had been like that but it can only be me that did it. It's the kind of thing a ghost might do to prove to the living that he is still there. I am haunting my own apartment.
Until this point, my sorrow had been under just my magnifying glass as I watched it metastasize only within me, but my sister, Shaylyn, who was also diagnosed, came to join my pity party. In a conversation, Shaylyn and I would go on to truly define the danger of trekking through life with FA alone. It comes down to the progressive nature of the disease. The way that the symptoms always get worse. It breeds pessimism; tending to see the worst aspects of life the most. It's difficult then to acknowledge any hope and people suffering from FA seem somewhat doomed to nihilism and hopelessness. Only at that stage, we were not alone––we had each other. We participated together in a FARA clinical trial facilitated by the Children’s Hospital of Philadelphia whereby we took two shots daily for 6 months. It’s funny how my existential pain had now just exported itself to the physical dreading of the needles. Now I am not dying in front of everyone…WE are dying in front of everyone! And somehow that was comforting.
Later our sister Tara would too be thwarted by horrible genetics and join the camp Shaylyn and I had established. Just the same as us, the depression leaked in and a FARA study emptied it out. Tara and I participated this summer in the FARA NAD+ exercise study, a study keen on tracking the positive benefits of a certain supplement coupled with exercise on people suffering from FA. The results of the study were immaculate. Immaculate, but not merely in the physical sense, though that would have been our experience––it was the physical aspect’s effect on the mental. These improvements that shouldn’t occur, according to the progressive nature of FA, calm the storm and establish a foundation in hope that was once lost. On display here is the significant impact FARA research has had on the FA community thus far.