Sonia Vallabh, who lost her mother to a mysterious brain disease, discovers she has a 50-50 chance of inheriting the same genetic mutation. She discusses living with uncertainty, getting test results, and finding comfort in not constantly managing uncertainty.
Sonia Vallabh's journey from losing her mother to a rare genetic brain disease to becoming a leading researcher in pre-on disease.
The power of love, resilience, and scientific curiosity in tackling the uncertainty and devastating impact of genetic diseases.
Deep dives
Sonia's Mother's Deteriorating Health
In 2010, Sonia's mother began experiencing troubling symptoms such as confusion and issues with her vision. Sonia recalls the heartbreaking moments of seeing her mother's cognitive decline, frequent falls, and episodes of paranoia. Despite undergoing numerous tests, a diagnosis remained elusive, prolonging the uncertainty and the agony for Sonia and her family. This period marked a devastating time for Sonia as she witnessed her mother's deteriorating condition.
Sonia's Genetic Risk
Following her mother's passing, Sonia learned that she had a 50% risk of inheriting the genetic mutation responsible for the disease that took her mother's life. This news left Sonia grappling with overwhelming emotions, yet she exhibited remarkable resilience. Determined to gain clarity and free herself from the constant limbo, Sonia decided to pursue genetic testing. The results confirmed that she had indeed inherited the mutation, altering the course of her life.
Finding Purpose and Hope
After receiving her test results, Sonia embarked on a journey fueled by her newfound knowledge and scientific curiosity. She and her husband, Eric, made a bold decision to leave their jobs and pursue a career in research dedicated to finding a treatment for pre-on disease. They enrolled in a PhD program and acquired the necessary qualifications to establish their own pre-on research group. Driven by hope, Sonia and Eric became advocates for themselves and others affected by this rare neurodegenerative disease.
Living with Uncertainty and Embracing the Present
As Sonia and Eric continue their research, their lives are shaped by a delicate balance between pursuing a breakthrough therapy and cherishing their present moments. Parenthood has introduced a new dimension, offering both solace and a distraction from the demands of their work. While uncertainty remains about Sonia's own future health, she finds peace in tackling the disease head-on and ensuring that her family is not defined solely by tragedy. By embracing the power of love and science, Sonia and Eric strive to make a meaningful impact in the fight against pre-on disease.
Sonia Vallabh had just lost her mother to a rapid, mysterious brain disease. And then, she found out that the disease was genetic. Doctors told her there was a 50-50 chance she had inherited the same rare genetic mutation that killed her mom. Sonia tells Maya how she managed a torturous state of limbo, and how what followed led her to the cutting edge of science.