Eleven-year-old Talia Duff of Ipswich has never had an easy time of it medically. Diagnosed at birth with Down syndrome, a genetic disorder generally associated with physical growth delays and intellectual disability, she nonetheless led an active life for years, going horseback riding, taking dance lessons, and often riding her bike.
Long an active participant in an inclusive classroom at Winthrop Elementary School, Talia comes across in person as a natural charmer. Her mother, Jocelyn, a physician’s assistant in Salisbury, said her wit and empathy have made her a “magnet for both adults and kids alike.”
Around her 9th birthday in November 2014, her parents noticed that Talia seemed to be losing mobility.
“Talia’s favorite breakfast used to be yogurt with fruit on it,’’ said her mother, “and I think somehow . . . she discovered she couldn’t really use the spoon anymore. I realized that she had changed her go-to breakfast to peanut butter and jelly because it was easier for her to eat.”
In September 2015, the Duffs received devastating news at Boston Children’s Hospital: Talia was diagnosed with another disease caused by a genetic mutation. Known as Charcot-Marie-Tooth Neuropathy Type 4J — CMT4J for short — it is extremely uncommon, with an estimated 20 people diagnosed with it worldwide. CMT4J is clinically similar to ALS, or Lou Gehrig’s disease, in that it produces weakness or paralysis in a patient’s limbs with rapid progression. The disease might ultimately impair the ability to breathe, a potentially fatal consequence.
According to the National Center for Biotechnology Information, CMT4J often develops during early childhood, with patients displaying irregular movements. The Duffs believe Talia’s diagnosis was delayed because doctors long attributed her symptoms to Down syndrome.
Currently, it is a disease with no known cure, though gene therapy is likely to have positive and potentially lasting effects, according to Dr. Jun Li, director of the CMT clinic at Vanderbilt University.
After the diagnosis, Jocelyn Duff and her husband, John, dean of enrollment at North Shore Community College, leapt into action and created a foundation to raise money for a cure. Cure CMT4J aims to procure $3 million as soon as possible to help Talia become part of the first human clinical trial of CMT4J gene therapy.
Dr. Li introduced the Duffs to the gene therapy possibilities in May 2016 and signed on as chairman of the foundation’s scientific advisory board. Following grants from the National Institute of Health and New England BioLabs, preclinical work began at Jackson Labs in Bar Harbor, Maine, in December. The foundation hopes to begin gene therapy trials on mice by April.
“What we’re trying to do is introduce the missing proteins back into the cell,” Li said.
The Duffs, who have another daughter, Teaghan, age 13, are acutely aware of the clock ticking as they wage their campaign. In the 18 months since their daughter’s diagnosis, Talia’s muscles have rapidly weakened, and she’s been forced to cope by modifying her routines.
Before they launched their effort, the Duffs were told it could take 10 to 12 years to achieve gene therapy trials. The foundation has raised $115,000 since last June, a long way from its $3 million goal.
“You have this whole burden, and it’s there with your hope,” John Duff said. “You’re trying to take care of your child and keep a normal life for your kids, and it’s sort of this balancing act.”
Jocelyn Duff hopes to see the creation of a nationwide facility that would make coping with rare diseases easier for families.
“I have this vision,’’ she said, “that someday there’s going to be a gene therapy institute of America which could eliminate the debilitating progression or cost,” she said.
For more information on Cure CMT4J, visit curecmt4j.org/.Samson Amore can be reached at firstname.lastname@example.org.