Here’s a story that serves as a sobering reminder of how genetic diseases can lay dormant and undetected for years, and how quickly they can come roaring to life… with tragic results.
In 2005, Hilary Lane was an elementary school music teacher leading an active life and preparing for her wedding: She was also preparing for gastric bypass surgery.
Hilary had struggled with her weight all her life, and like the hundreds of thousands of patients who have the surgery each year, she hoped it would help her where diets had failed. At first the surgery seemed to be a rousing success; Hilary started shedding pounds quickly, and she and her husband Randy settled in to enjoy their new life together.
The problem came when Hilary couldn’t stop losing weight. Four years after her surgery, Hilary’s weight had entered dangerously low territory, and her husband and family began noticing changes in her cognitive ability and personality.
Doctors struggled to find a cause, and over the course of several months Hilary sank deeper into pain and confusion as her weight dropped to 88 pounds—before the surgery, she’d weighed over 300 pounds.
Unknown to Hilary or her doctors, the gastric bypass surgery had triggered a genetic disorder that had been lying dormant in her DNA: acquired urea cycle failure.
Because gastric bypass surgery decreases fat absorption, the digestive tract ends up getting “rewired” in a sense.
Vitamin D has to be dissolved in fat before it’s absorbed into the body—with less fat being absorbed, there’s less Vitamin D going in, which can have a cascading effect.
In Hilary’s case, that meant her body was no longer converting ammonia—naturally produced from the breakdown of protein—into urea, so instead of being flushed harmlessly out of her body, the ammonia was poisoning her.
Taking in more protein just caused her ammonia levels to spike, but when she didn’t take in protein, her body started to break down lean muscle mass.
By the time doctors discovered the cause, it was too late for Hilary; she died in April 2012.
While this kind of complication from gastric bypass is very low—fewer than 10 have been recorded in the surgeries conducted since 2007—it nonetheless illustrates that we have a long way to go in our understanding of the complex genetic interplay taking place in our bodies every day.
Hopefully we can learn from cases like this and lower the risks for future gastric bypass patients.
Saving others’ lives would make a fitting tribute to the life of Hilary Lane.