Hope for life

13-year-old Talia Duff has an enthusiasm for life, despite not being able to stand or feed herself because of a very rare neurological disease. With newfound hope, she and her family regularly travel 1,800 miles from Massachusetts to UT Southwestern Medical Center for a potentially life-saving gene therapy treatment.

Transcript

Video open with home video of Talia Duff as a child. She is now 13 years old. Talia’s mother begins talking. 

Jocelyn Duff: “It was a devastating heartbreaking diagnosis.”

Home video continues as Dr. Steven Gray, UT Southwestern Associate Professor of Pediatrics, explains Talia’s condition – one she was diagnosed with at age 10.

Dr. Steven Gray: “What Talia has is this disease called Charcot-Marie-Tooth Disease which has nothing to do with teeth, but she’s got a form of this…where nerves stop functioning properly…so it’s going to be losing the ability to walk, losing the ability to really use her hands and arms really well…and her form of CMT is fatal.” 

Jocelyn Duff: “When they first identified the gene back in 2007, there were 22 known cases throughout the world.” 

“We had sat with the diagnosis for about 9 months and then we traveled around trying to find the researchers that knew the most about CMT4J. And one of them and one of them said, ‘You know. I think there is a possibility of a cure.’ And both of us had to pick our jaws up off the floor.”

“Dr. Gray is amazing. He is one of the pioneers in the world of gene therapy.”

“We talked about the potential of gene therapy and given that CMT4J involves one faulty gene, it makes it an ideal candidate for gene therapy and that’s when we started our foundation to raise the funds and advance the science.”

Dr. Gray: “Now, we’re getting ready to talk to the FDA because we have a treatment that in the lab looks like it’s working pretty well and so we’re trying to move forward now in this rush and this mission of hope to try and bring this treatment to kids as quick as we can.”

“That girl is amazing. She’s got such a sense of humor. She lights up a room, and I didn’t think that we would have to work any harder on this, but meeting her it’s just (strong pause), it’s really got to move quick.”