After Jeff Carroll got tested to see if he’d die prematurely from a hereditary disease that killed his mother and grandmother, a doctor unfolded the results, checked to see if Carroll still wanted them, then read them aloud.
Carroll was 25 when he learned he had the rare gene mutation that causes Huntington’s disease.
Megan Carroll, his wife, was so shaken she couldn’t find words.
“Jeff asked almost immediately for a job,” she recalled of her husband’s desire to help in some way.
Huntington’s disease is relentless in its attack on brain cells. Still uncurable, it robs people of memory and personality and strikes them with involuntary, jerky movements that only get worse. Carroll’s mother wore socks on her hands in her last days in a nursing home because her thrashing had become so violent. She died at 54.
Deep down it’s Jeff I want to save and I know I’m not alone in that.
Dr. Ed Wild, a London researcher who co-founded HDBuzz.net with Jeff Carroll
“Born smart and stubborn,” according to colleague Dr. Ed Wild, Carroll has responded by immersing himself in the study of Huntington’s in the hope of prolonging lives, including his and those of three younger siblings who also have the mutated gene.
The high-school dropout from Kent and former Army corporal bootstrapped his way through a Ph.D., did postdoctoral research at Harvard Medical School, and became a tenured psychology professor at Western Washington University.
Now, 39, wearing Chuck Taylor high-tops and a nose ring at work, Carroll is a neuroscientist who has attracted $3 million in grants. He was the Huntington’s Disease Society of America’s Researcher of the Year in 2014, along with Wild. And he co-founded the website HDBuzz, which provides patients and families with plain talk about science concerning Huntington’s disease, or HD.
His work energizes others. “Deep down it’s Jeff I want to save and I know I’m not alone in that,” says Wild, a researcher in London and Carroll’s partner in HDBuzz.
The onset of symptoms is expected to hit Carroll in less than a decade.
There’s lab work to do, kids to raise, and hope to convey – “substantive hope,” Carroll calls it, based on rigorous science, not frantic hope, or faith-based hope, or bogus treatments pushed at HD patients such as injecting themselves with live shark cells.
“I’d be lying if I said there weren’t times I’m scared,” Carroll said. “But I find it less damaging to my life to be directly engaging as opposed to running away.”
DIY education on HD
Carroll was born and raised in Kent; his dad was a firefighter and his mom stayed at home to raise six kids. They divorced when he was 12.
Carroll said he recently found one of his junior-high report cards. He got an A in computer programming and an F in English. When his friends jumped on their skateboards, Carroll said, he turned to taking computers apart.
He dropped out of Kentwood High School after 10th grade and took high school and college courses at Green River Community College as part of the state’s Running Start program.
“He was too smart for high school,” said his sister Stacey Carroll, who tested negative for HD and is the oldest of six siblings.
Huntington’s symptoms are described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously.
At a rowdy house party one night, he had a run-in with cops that led to some soul-searching, he said.
“I didn’t have money for college and didn’t have the discipline to know what I wanted to do,” he said. “I thought the most punk-rock thing I could do is join the Army.”
He showed up at a recruiting office, wearing a septum ring in his nose, he said. He weighed 127 pounds.
Just before he was deployed to Kosovo in 1999 as part of a NATO peacekeeping mission, his father told him his mother was showing signs of Huntington’s.
The internet was young. His platoon-mates in Kosovo called him “GC” or “Golden Child,” Carroll said, because he was the only one who could make his sergeant’s email work.
Carroll “built a gnarly hairball of a DIY network,” he said, with pretty good internet access. He started searching.
He learned about Woody Guthrie, the legendary folk singer who died from Huntington’s in 1967 at age 55. He read about the stigma attached to patients, whose jerks and twitches evoked stares, slander and misdiagnoses, including public drunkenness. Called “shakers” by Dr. George Huntington, who first wrote about the disease in 1872, they were later sterilized and murdered by Nazis.
In the U.S., Carroll notes, state laws in the early 20th century allowed sterilization of people with hereditary diseases, and presumably some with HD were targeted.
Huntington’s symptoms are described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously. After the early stages, marked by depression, irritability and loss of coordination, people with Huntington’s are eventually trapped in their bodies, able to perceive their deterioration but unable to communicate. Death often comes 10 to 20 years after diagnosis, from a complication such as choking or an infection.
About 30,000 Americans have symptoms of the disease.
At its root, Carroll learned, was a genetic defect on chromosome 4, where a sequence of nucleotides – or DNA building blocks – repeats more than it should in a sort of molecular stutter. Children have a 50-50 chance of inheriting that gene mutation from a parent with it.
Joy in the science
After his discharge from the Army, Carroll applied to the University of British Columbia (UBC). But not with any grand plan in mind, he said. Lacking high-school prerequisites, he had to talk his way into science classes.
Only a small fraction of people in the U.S. from HD families get tested before symptoms emerge, Carroll said. Many would rather not alter their lives obsessing about the disease, he said.
In his second year as an undergraduate, he decided to get tested. Soon he was trying to do his bit to help, working in the UBC lab of Dr. Michael Hayden, one of the world’s pre-eminent Huntington’s researchers.
Carroll spent seven years in Hayden’s lab as he progressed through graduate school. “Initially it was just out of curiosity,” Carroll said. “I definitely wasn’t planning a career in research. I didn’t know you could.”
But he liked lab work. “To do science every day you have to find joy in it. I was really lucky that it lined up for me,” he said. “I’ve met people from HD families who join a lab and it doesn’t work because science isn’t for everyone.”
Carroll hit an existential hurdle, though, on the slog to his Ph.D. Spending so much time in school didn’t make sense to someone with the life span he was looking at. He thought about taking up sheep farming on one of Canada’s Gulf Islands.
Hayden told him to buy a sheep, Carroll recalled, but not to drop out of grad school.
“That was my crisis: What do I really want to do? The honest answer is I’d do this anyway. Of all the career paths available this was the best,” he said.
He never got the sheep.
Tricking the cells
It’s a “crazily exciting time” in HD research, Carroll says.
Gene silencing appears to be the most promising treatment on the horizon. Because Huntington’s results from inheriting a defect in a specific gene, the idea behind gene silencing is to trick cells into shutting off the HD gene and only the HD gene.
The first human clinical trials involving a drug that kills crucial messenger molecules to the HD gene are underway in England and Canada. About 40 volunteers are having the drugs injected into their spinal fluid. As a phase I trial, it is focused on the safety of the treatment.
Carroll’s most recent work, the bulk of which is funded by an $800,000 grant from the CHDI Foundation, occurs on the fifth floor of a university building in Bellingham.
One of Carroll’s concerns is what consequences might come from silencing the HD gene. While waiting for the human trials to conclude, he figured he could help by looking for side effects in the organs of lab mice.
“The question of where else do we need to silence the gene to have the most beneficial and least deleterious effects is an open one,” said Robert Pacifici, chief scientific officer of the nonprofit CHDI Foundation, which is devoted to developing drugs that slow Huntington’s progression.
“His work is a good fit and really good complement to all the other things going on. The fact that it’s not at Harvard doesn’t mean that much to us. No one investigator is going to come up with a cure. It takes a village,” said Pacifici.
Despite Carroll’s optimism about the human trials, he said he doesn’t use the “c” word, or “cure,” about the cutting-edge research. It’s an unrealistic target, he said.
Instead, he hopes gene silencing can help prolong healthy life span, similar to the way HIV treatments have worked.
“Huge dose of hope”
Carroll’s work beyond the lab leads Wild to call him a “triple threat.”
He’s also an educator. Through HDBuzz, he’s on a “quest to take every cool piece of Huntington’s disease research and make it accessible to the families affected by HD,” Wild said. Volunteers translate the website into 13 languages.
And he’s an advocate.
“He’s very open and straightforward sharing his personal trials in a frank and direct way, with a good dose of humor to temper the sadness and a huge dose of hope and determination,” emailed Amber Southwell, a friend and HD researcher at the University of Central Florida.
When he’s on a stage, talking about intimate parts of his life, others realize they’re not alone and helpless, Southwell said.
“He wears each of these hats brilliantly,” said Louise Vetter, CEO of the Huntington’s Disease Society of America, in an email while traveling to the Vatican, where Pope Francis embraced HD patients on May 18 to try to end the stigma some still face.
But Carroll balances work with his family, which includes 11-year-old twins Billie and Elijah. They were conceived through a process that combines genetic screening with in vitro fertilization.
Through this, Carroll and his wife were assured that two cultured embryos were free of the mutated gene.
“It’s a wonderful thing to have kids who are not at risk for genetic disease,” he said, in his office decorated with their drawings.
Carroll has been courted by larger research institutions but has chosen to stay in Bellingham largely for family and quality-of-life reasons, said his sister Stacey.
It’s consistent with his DIY anti-establishment tendencies, she said. “Like building that network in Kosovo, he’s building his own lab at a regional university. It just goes to show you don’t have to come from wealth or an Ivy League school.”
Whenever he’s particularly frustrated with work, Wild said, he thinks of Carroll’s determination and grace.
“That is generally sufficient,” Wild wrote in an email, “to put my London academic neurology hiccups into perspective.”