Walk to raise awareness of Huntington’s disease
Sue Teal had always been an early riser.
She would wake, work out and turn to brewing her favorite flavors of coffee before heading out to one of her three jobs she juggled as a single mother of two girls.
But that was 20 years ago. These days, Teal, 61, needs a team of people just to leave her Shelby Township home.
She has Huntington's disease, a fatal genetic disorder that causes the breakdown of nerve cells in the brain. There is no cure for a disease described as having ALS, Parkinson’s and Alzheimer’s, all at the same time.
"To see her now being unable to move or leave the house in such a short time, it's a hard pill to swallow," said her daughter, Krissi Kinney Pautansu, 39.
Pautansu of Utica has been volunteering for more than 20 years with the Huntington's Disease Society of America. She works with the Society's Team Hope Walk Program, a grassroots fundraising campaign, hosting walks to spread awareness of the disease she calls "horrific."
On Sunday, she'll join others in Center Line for the group's walk.
Fundraising couldn't be more important for a disease whose symptoms include physical and mental deterioration during a person's prime working years. Children of a parent with Huntington's has a 50/50 chance of inheriting the faulty gene, researchers say.
About 30,000 Americans have symptoms, and more than 200,000 people are at risk of inheriting the disease, according to the society.
About 1,000 people in Michigan carry the gene, and there are more than 7,000 carriers, including Teal's family, which, like others, is looking to researchers for a cure.
"We’re at the point where blocking the bad gene from expressing itself is a real possibility, and it is happening now in early clinical trials," said Dr. Praveen Dayalu, a neurologist at University of Michigan Medicine. "With luck, we might be able to slow down its progression, or even prevent symptoms altogether in people who carry the mutation, in the future."
Dr. Francis S. Collins described the early days at the University of Michigan of trying to pinpoint the location of the gene that causes Huntington's. That research 26 years ago was "a very intense effort" involving seven labs in Michigan to tackle a disease.
Now, he says, he envisions a day when those with Huntington's "won't even know they have it."
"What took us about 10 years could be done by a pretty good grad student in about a week," said Collins, now the director of the National Institutes of Health in Bethesda, Maryland.
During fiscal year 2018, the institute spent $52 million on research..
"There are lots of efforts to try to understand what is it environmentally or physically that influences the age of onset," said Collins, saying that age differs with each person who has the disease. "If we could delay onset by 50 years, people wouldn't even know they have it."
Pautansu's mother was diagnosed in her early 40's after symptoms emerged. Over time, her mother progressed into using a walker and then a wheelchair.
Many children of those with family members affected by Huntington's disease struggle with getting tested to learn if they carry the gene, said Pautansu, whose grandfather and uncle had the disease.
"It’s a very personal decision and everyone has their own personal beliefs," she said. "It impacts if people want to have children, and changes their outlook on life. Everything they imagine for their timeline, their career, education, family and friends ... could all be turned upside down."
The Huntington Disease Society of America is trying to raise awareness as the Huntington's Disease Parity Act of 2017 is being re-introduced to Congress in May by Reps. Adam Kinzinger and Bill Pascrell Jr.. The bipartisan bill ensures Medicare is made available to people with the disease immediately upon qualification for a disability, cutting a two-year wait time.
"Individuals with Huntington’s disease confront profound challenges, facing emotional and financial obstacles in addition to the health struggles," Pascrell said. "These individuals and their families deserve any relief we can provide as they deal with this devastating disease."
Dayalu said the disease predominantly affects people of European ancestry. More awareness has led to more people being diagnosed early on.
" ... Things are definitely looking brighter, with clinical trials of cutting-edge, gene-based therapy and other novel approaches," Dayalu said.
Gene-based therapies could prevent the disease altogether in the future, he said. Right now, even delaying its onset or slowing down the progression could be a major advance.
One way: using in vitro fertilization to selectively implant a fertilized egg that doesn't carry the gene, Dayalu said. It's an expensive and emotional investment, he said.
"The motto that (Huntington's patients) have is family is everything," Pautansu said.
The Detroit Metro Team Hope Walk begins at 11 a.m. Sunday at Centerline Park in Center Line. Participants have raised $10,000 each year of the walk.
It's a cause that should move even those who don't have family members struck by the disease, said Dayalu.
"Even those of us without Huntington's disease in our families really should care. In the future, our children might have children with someone at risk," Dayalu said. "Genes flow through our diverse population like myriad streams, merging and splitting over time."