My cousin recently died of Huntington’s disease. To say that he “succumbed” to the disease feels inaccurate, as if his strength and vitality just couldn’t last as he fought the malaise within. That narrative framing is better suited for infection or cancer, where the body has been invaded or betrayed, and the victim must engage the foreign entity in battle. Those with Huntington’s cannot fight the disease. Huntington’s is not a virus, or a mass of cells gone rogue, and therefore it is not a discrete enemy that can be engaged. Rather, the disease is caused by a single genetic error, present since birth in every cell of the body. This error occurs at the moment of conception, rather than over the course of a lifetime, and in that moment a person’s fate is sealed. In the current treatment landscape, there is no escape from Huntington’s.
Huntington’s is the result of a defect in the gene that encodes for the protein huntingtin. The protein's normal function isn't yet known; the name comes only from the identification of its defective form as the cause of the eponymous disease. The huntingtin gene contains a trinucleotide sequence of cytosine-adenine-guanine (CAG) repeated a variable number of times (i.e., …CAGCAGCAG…). The length of this repeat predicts the onset and severity of suffering and the likelihood that one’s children will inherit the disease. The repeat also increases in length with each subsequent generation, and in this way, the mechanism of the disease reflects the emotional burden it places upon a family. In addition to their own suffering, the impact of the disease on the victim is magnified by the suffering of their ancestors. The rest of the family must endure in the face of agony that only grows larger with time.
Reflecting on my cousin’s death leaves me with an array of different emotions: hopelessness and dread, but also a sense of awe and inspiration. The inevitability of his decline and death, and the futility of treatment beyond mitigating symptom severity, rendered the whole experience demoralizing and tragic. At the same time, his descent was mercifully quick, and though the speed at which he lost his mental and physical faculties was staggering, I found myself in awe of his courage and joyful demeanor in the face of such despair. He and his immediate family deservingly received much love and support from his friends in those final months. I must imagine that despite the pain, my cousin died without a single doubt that he was loved. Unfortunately, knowing that his son’s life may be dictated by this same fateful genetic error is even more heartbreaking. If the son has a greater number of repeats than his father, his fate is decided. However, it is equally likely that he will not carry his father’s defective gene and can live as normal a life as can be when a parent has been lost to illness too soon. His future is thus precipitously poised on the thin edge of a genetic coinflip.
My cousin is not the first member of my family with Huntington’s. My uncle endured 20 long and painful years in an advanced stage of the disease before he died. A generation prior, my great uncle also suffered and died from Huntington’s before I could meet him. It was this consistent inheritance pattern, along with the distinctive symptoms of those afflicted, that allowed a young physician by the name of George Huntington to first describe the disease in 1872. A hundred and fifty years later, this inheritance pattern also makes Huntington’s feel like a vengeful specter, haunting the generations of occupants of a forsaken building. As one of those occupants myself, I dread discovering the ghost’s next victim. But at the same time, the ever-looming specter of Huntington’s makes us grateful for the family that is spared and ultimately makes us appreciate one another more.
By now, my uncle’s children have either tested negative for the pathologic gene or have passed the age of symptom onset and do not plan on having children. So, while the disease has brought grief and sadness into our family for generations, most of my relatives are now free from its ancient and greedy grasp. Writing this has helped me to process some of the feelings with which my cousin’s death left me, and has allowed me to gain a greater understanding of the disease that took him. Both processes have helped me to cope, but the sadness still lingers, as it does after all untimely ends. Despite humanity’s apparent mastery over the natural world, it seems we are still powerless against a single loose thread in the very fabric of life. Until the day we exert complete control over our DNA, we will have to carry on loving, caring for, and grieving the loss of one another, just like each generation before us. If that is the treatment required of the human condition, I am honored to administer it.
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