The very first genetic support group I attended, even before I was in graduate school for genetic counseling, was for family members of individuals with Huntington disease. I remember how difficult it was to listen to the stories of these brave individuals, and how I could not imagine what they were going through.
Many years later at a continuing education conference, as a former clinician and current laboratory genetic counselor, I again heard a young woman speak first-hand of her experience being at risk for this condition. She shared her story by creating a documentary titled Twitch. We viewed the film, and then had the opportunity to ask the young woman about her experience, and how she uses the documentary to help promote awareness about HD.
Huntington disease is a fatal genetic condition that causes the progressive breakdown of nerve cells in the brain. It is inherited in autosomal dominant fashion, meaning only one copy of the damaged gene is
necessary to cause the disease. Each child of a couple with one affected parent has a 50% chance of inheriting the disease-causing gene. As Huntington disease is one of the many conditions we test for in the laboratory, having the chance to hear more about what it is like being part of a family facing this genetic demon was thrilling and touching, all at once.
Kristen Powers, the filmmaker behind this story, grew up with little memory of her mother. She was only about nine years old when her mother was diagnosed. As the disease progressed, her mother became more difficult to care for, and ultimately was placed in a nursing facility where she could get the proper care that her family could not provide.
Kristen was intelligent, curious, creative, and definitely not your ‘typical’ kid. She threw herself into projects, lived life fully, even as a young teenager, and knew of the risk she faced. At a young age she decided that she wanted to know if she was destined to proceed down the same path as her mother. She knew there would be no way to change the answer once she had it, but she wanted this knowledge. Sharing her story by filming herself and showing footage of her mother, others with HD, and the support of her family and friends during the testing process, allowed a glimpse into something that most of us will never fully understand.
Her ability to share her feelings, the experience, and what it meant to her, while respecting the choices of others who did not want to find out whether they carried the Huntington disease gene showed a level of maturity well beyond her years. I was very pleased that she went through the approved HD protocol for testing. At age 18 she saw a genetic counselor and had the support of friends and family when receiving her results. Her willingness to share her story, answer questions, and help others better understand how a devastating disease affects the entire family, not just the affected individual, is something everyone should take the time to consider. If you want to learn more about HD, please visit www.twitchdocumentary.com and www.hdsa.org.
Meagan Krasner is a Board Certified Genetic Counselor for Quest Diagnostics. You can learn more about genetic services at Quest here: QuestDiagnostics.com/home/physicians/testing-services/condition/genetics. To learn more about the Genetic Counseling profession, visit the National Society of Genetic Counselors website at www.nsgc.org.