"Navigating Genetic Disease Testing: A Personal Story"

“Navigating Genetic Disease Testing: A Personal Story”
TEDX TALK BY SETH ROTBERG

I chose to do my Neuro Note on Huntington’s Disease and I discovered the Ted Talk, “Navigating Genetic Disease Testing: A Personal Story” by Seth Rotberg. During his Ted Talk, Seth spoke about how his mother was diagnosed with Huntington’s disease (HD) when he was just a teenager and was often embarrassed when his mother was around his friends (they’d likely just assume she was a drunkard). He never revealed her diagnosis with his friends. She experienced poor balance, slurred speech, mood swings, and cognitive decline. It was hard for Seth to watch his mother get progressively worse, so he spent most of his time away from home with his school friends. As he got a little older, he began learning more about HD—how it affects people (e.g., a decrease in ability to concentrate and a decrease in decision-making skills). There was also the fact that there is no cure for HD, which hung over his head. The lifespan for someone diagnosed with HD is 10-20 years. By the time Seth reached college, he suspected that he had HD; it seemed inevitable. Before even getting tested for confirmation, he became super active in organizations that promoted Huntington’s Disease awareness. With friends, he launched an event called “Hoops for Huntington”, which allowed him to spread awareness and keep busy. Despite all of this, he still had not gone for testing. Finally, Seth received the confirmation that he knew was coming. He was diagnosed with HD. He started to ask himself questions about what he wanted his future to look like—did he want marriage and a family? What about his future career? He kept his diagnosis a secret for two years. The death of two close friends caused Seth to reconsider. One favorite quote of his deceased friend was, “Live as if you were to die tomorrow and learn as if you were to live forever”, which inspired Seth. His family and friends were extremely supportive once they learned about his diagnosis. From this experience, he stated three things that he learned: (1) if diagnosed, reach out to a genetic counselor or specialist and begin working with them immediately, (2) talk to friends and family from day one, and (3) remember that each day is a new day.

To gain more understanding about Huntington’s Disease, I visited the Mayo Clinic website and learned a few interesting facts about the disease. Huntington's Disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's Disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. HD symptoms can develop at any time, but they often first appear when people are in their 30s or 40s. If the condition develops before age 20, it's called juvenile Huntington's Disease. Also, medications are available to help manage the symptoms of Huntington's Disease, but treatments can't prevent the physical, mental and behavioral decline associated with the condition.

It is frightening to think that someone can be living their life independently with plans for a bright future, to then get hit with this sort of “death sentence”. Like Seth, the best way to go about life afterwards is to embrace it with positivity and a mission to help other young people who have been diagnosed with Huntington’s Disease.

Mayo Foundation for Medical Education and Research. (2020, April 14). Huntington’s Disease. Retrieved July 26, 2020, from https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117

Rotberg, S. (2018, January). Seth Rotberg: Navigating Genetic Disease Testing: A Personal Story [Video]. TED Conferences. https://www.ted.com/talks/seth_rotberg_navigating_genetic_disease_testing_a_personal_story