An end to Huntington’s disease

Mr. Yim's body no longer belonged to him. Against the pale pink walls of the convalescent home, his left arm jerked to and fro, a violent whip. Years before, Mr. Yim had been a school principal, but it was hard to imagine him as anything from his present vegetative state. In less than a decade, he had changed – no, he had disappeared, and in his place was this frail man in a wheelchair, a stranger. His neck deflated to one side as I slowly exited the room, an unintelligible murmur escaping from his jaw. No, Mr. Yim was gone.

Combine the cognitive decline of Alzheimer's, muscle spasms of ALS, and emotional irregularities of schizophrenia and you have a rough picture of Huntington's disease, a neurodegenerative disorder in which nerve cells in the brain accumulate toxins and die. The result is a progressive loss of control of both the body and mind, manifesting as involuntary writhing movements called chorea and deteriorating mental abilities. Typically, the first signs of illness appear around age thirty to forty, worsening until patients require full-time care. Some develop depression or unusual behaviors, a by-product of damage in multiple regions of the brain. Others gradually relinquish the ability to speak, no longer able to command their vocal cords. No matter the severity of symptoms, however, all Huntington's patients inevitably die from their disease.

Although less prevalent than cancers and less gruesome than Ebola, few disorders are as heartbreaking as Huntington's. In the hospital, I’ve watched it destroy not only the physical being of a person, but thoughts, memories, and personalities – the things that make us who we are. Losing a loved one is always painful, yet especially for Huntington's patients, death can be drawn out and humiliating. And while victims of the disease undoubtedly suffer, so do the caregivers. Children of parents with Huntington's have a 50% likelihood of inheriting the condition and may spend the rest of their lives in fear, reluctant to start a family of their own or plan a long-term career. With medical testing, those at risk can find out if they will have the disease, but because there is no cure, many prefer to not know. For these unlucky individuals, fate rests on a genetic coin flip. Half of them, free of Huntington's, will have the chance to lead normal lives. The other half, predestined, will endure the horrors of neurological degeneration.

Despite the dismal outcomes of Huntington's, I believe that there is light in the abyss. As an MD-PhD student, I've learned that the disease is caused by a mutation in a single gene, opening the possibility of repairing genetic material from patients through a process called gene therapy. There are still no treatments to stop or slow down the illness, but current research is promising. In particular, recent advances in genome editing and a technology known as site-specific nucleases could make it feasible to replace the faulty gene in Huntington's with a healthy variant, thereby eliminating the toxins potentially responsible for nerve cell death. While I have many years of clinical and graduate training remaining, I hope to one day pursue this topic as a physician-researcher and translate scientific progress on the disease into future medical care.

I stand for an end to Huntington's disease. I am only one person, but I will do everything in my power to promote awareness for patients, make new discoveries in the lab, and ultimately alleviate the suffering of individuals like Mr. Yim. Our generation is closer than ever to finding a cure. I know that we can make it happen.