Shortly before Talia Duff of Ipswich, Massachusetts, turned 9, her mother noticed that she was losing mobility. Talia, who has Down syndrome, could no longer use a spoon or give a hug and her arms and legs had become increasingly weak.
Jocelyn Duff, a physician’s assistant, and her husband, John Duff, dean at a community college, took their daughter to the hospital for testing and received devastating news in September 2015: Talia had a rare genetic disease called Charcot-Marie-Tooth Neuropathy Type 4J — a disorder estimated to be shared by only 22 people worldwide. The disease causes profound muscle weakness and eventually affects the capability to breathe.
“It was heartbreaking — we were told there was no hope, no treatment, no cure,” Jocelyn, 50, tells PEOPLE. “There wasn’t much research available about it, and that kept me awake at night. I wanted to do as much as I could.”
Adds John, “It’s a horrible feeling to go to a doctor and be told that there’s nothing that can be done — that the best you can do is try and make your child comfortable and enjoy the time you have together. I learned to cherish moments in life that I would otherwise take for granted.”
The Duffs soon realized that to save Talia’s life, they would have to take the search for a cure into their own hands. They created the Cure CMT4J Foundation to raise money for research, and Jocelyn gleaned through every story she could find on the Internet in search of researchers and scientists who knew something about the disease.
When Dr. Jun Li, director of the CBT clinic at Vanderbilt University, told her that gene therapy might help Talia, Jocelyn took her quest one step further: Last September, she asked all of the experts she had found in an online search if they would meet her in Bethesda, Maryland, to discuss working on a cure for CMT4J. Eight researchers showed up, each agreeing to work together to find a way to help Talia Duff.
“It was an incredible moment — hands started going up and people were saying, ‘Let’s get to work,’ ” Jocelyn recalls. “It was so heartwarming and comforting — I felt like I was walking on clouds for days.”
Since that meeting, the Duffs have received some uplifting news: the researchers work to prove gene therapy could have positive and lasting effects for Talia (who is now 11) is going better than anticipated.
The scientific team has been busy conducting preclinical work to attain proof of concept for gene therapy. Once this critical milestone is reached (expected by late summer), Jocelyn will pursue FDA approval for a human clinical trial with the hope that Talia will be among the first to receive gene therapy intravenously.
“We feel hope now,” Jocelyn tells PEOPLE. “People have said to me, ‘This is a lot of work for you,’ and my response is, ‘Hey, you would do this for your child, too.’ I simply can’t stand by and do nothing.”
Community efforts to fund research for the cure have thus far brought in more than $235,000 on the Duffs’ website, with a goal of reaching $1 million by the end of the year.
“Talia has faced such tough monumental challenges, and yet, she smiles through it all and has never complained,” says Marcia Gray, a family friend who helped organize several “Duff Enough” fundraisers. “It’s important to everyone, especially Talia’s school friends, to do what they can.”
Once an active girl who enjoyed dance classes and riding her bicycle, Talia is now too weak to walk or lift up her arms. But her family is hopeful that if gene therapy stops the disease’s progress, her peripheral nerves will heal, allowing her to get back some of her strength.
“The lessons we learn and the technology we develop through helping families like the Duffs will ultimately help us create best practices and treatment for a wide variety of diseases,” says Cathleen Lutz, senior director of the Rare and Orphan Disease Center at the Jackson Laboratory. “Every person with a genetic health condition deserves the chance to lead a healthy, happy life.”
The Duffs, who have another daughter, Teaghan, 14, know that time is their enemy, but they remain hopeful that the voluntary hard work of Talia’s research team will soon add years to her life.
“I’m floored by how far we’ve come in a year,” John tells PEOPLE. “To think that a little over a year ago, we were flying around the country, looking for a sliver of hope, and now we’re working on a cure. We realize that this is science and there is still a lot that can happen, but to get this far in that short amount of time is breathtaking.”
Adds Jocelyn, “We’re so overwhelmed with gratitude for everyone who has gotten us this far. And now Talia is giving other families hope. To every family out there in a similar fight, we want to say, ‘Don’t give up. Anything is possible.’ “