IPSWICH, MASS. (WHDH) - An 11-year-old from Ipswich has become the new face of parent driven research when it comes to rare diseases.

These are kids who are suffering and don’t have time to wait for a cure.

So, their parents step in to find the experts, raise the money, and drive the scientific research to get them the help they need before it’s too late.

For Talia Duff and her parents, early milestones, like her first steps, were hard fought and won.

“I remember coming home the first time she had taken those first steps. Jocelyn had been working with her and working with her… it was amazing,” said Talia’s father, John Duff.

Talia, who is now 11, was born with Down syndrome.

She moves at her own pace, but the feet and legs that once carried her across the dance floor are now braced and wheel chair bound.

“When she was about three and a half she got sick with a virus of some sort. Shortly after that we noticed she got weaker,” said Talia’s mother, Jocelyn Duff.

“She lost the ability to use her arms, in the ways she used to. Be able to high-five her friends at school. She’d give you a hug,” said John.

This loss of ability began the search that would last for years.

Doctors at Boston Children’s Hospital eventually realized it was CMT4J.

CMT4J is also known as Charcot Marie Tooth 4J, and is an extremely rare and potentially deadly neuro-degenerative disease.

It has qualities similar to ALS.

The Duff family is venturing into uncharted territory.

“There are only 22 known cases in the world,” explained Jocelyn. “We spent a good amount of time just being angry and sad.”

“It’s pretty devastating when you land on a diagnosis and you know what you’ve got there’s nothing could be done about it. And you feel pretty alone,” added John.

Back at home in Ipswich, Talia is now in 5th grade, and has learned resilience.

She even has adapted her morning routine to better fit her needs.

“She can’t eat her cereal…so her breakfast is a peanut butter sandwich. It’s just easier to hold in her hand,” said Jocelyn

But this Ipswich family has found hope.

They have studied and found that there is a cure for CMT4J, but developing it would take a minimum of eight to ten years.

That’s time that they don’t have.

So, they started fundraising, and identified and assembled the top experts in the field.

The experts they met with agreed to help, including scientists at the Jackson Laboratory in Bar Harbor, Maine.

“In a way, they’re the pioneers,” said Dr. Cat Lutz at the Jackson Laboratory.

Dr. Lutz says Talia’s disease can be isolated to a single gene mutation.

Scientists believe with gene therapy, a process that replaces abnormal genes, they can stop the disease in its tracks.

Their goal is to fix a specific gene so that it makes a protein Talia’s body no longer makes, using a virus to transport it to cells in her body.

“Yeah, it’s pretty cool,” said Dr.Lutz.

For the team at the Jackson Laboratory, the research is personal.

“It’s not just an experiment. This is Talia’s experiment, and we have to be good stewards of this,” Dr. Lutz told 7News.

The lab began the work tied to Talia with the help of a NIH government grant.

They are hopeful to get approval for clinical trials soon, and they say there’s promise for finding other disease cures as well.

For the Duff family, the fight and the fundraising are no longer a journey made in isolation.

“We had kids out there on the first day of summer vacation holding bake sales and lemonade stands in honor of Talia. And everyone throughout our town and community has really sort of embraced us and have taken this on with us. It doesn’t feel so lonely anymore,” said Jocelyn.

More than 25 scientists and technicians are working on Talia’s case.

They’re hoping to get FDA approval in June that would allow clinical trials in another year.

If you’d like to help out or read more about it, go to their website.

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