A Massachusetts family's push to research a rare disease is helping doctors get one step closer to a cure.
NBC10 Boston first featured Talia Duff of Ipswich in 2017, after she diagnosed with Charcot Marie Tooth Type 4J, or CMT4J. It is an extremely rare neurodegenerative disease and has qualities similar to ALS. Every day, Duff, now 13, is getting weaker.
"She went from walking to a walker to a wheelchair in a few short years," said Jocelyn Duff, Talia's mother.
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There are only 30 known cases in the world.
Instead of accepting the fact that there was no cure or treatment, Duff's parents got to work. They gathered top researchers and set a goal of raising $1 million to help get a clinical trial off the ground.
Through road races, bake sales and a viral social media campaign, they were able to achieve their goal. Donations came pouring in not only from the Ipswich community, but from countries all over the world.
"It was unbelievable," Jocelyn Duff said.
The family's effort on behalf of patients like Talia Duff helped advance the research enough that a natural history study is now underway. Doctors at the University of Texas Southwestern Medical Center in Dallas are now in the process of collecting data from as many patients as they can. This will help researchers compare the data once a gene therapy trial happens, hopefully sometime in 2020.
"It's a huge step forward. It really is. It's not the clinical trial yet, but it's a step we have to take in order to get to the trial," Jocelyn Duff said.
Talia and her family traveled to Texas in July to take part in the study. With her disease progressing, they know it is a race against time, but they are hopeful that they will be able to help their daughter and others. Above all, they said they are grateful to the community for helping them get this far.
"We wouldn't be here now without the support and generosity." Jocelyn Duff said. "And the message that spread around the world of hope."
To learn more about CMT4J and the Duff family's mission to spread awareness, visit their website.