IPSWICH, Mass. - Eleven-year-old Talia Duff of Ipswich is one of only 22 people in the world known to have an ultra rare disease and her family racing against the clock to find a cure.
Boston 25 News Anchor Heather Hegedus sat down with Talia's mom, Jocelyn, whose world was turned upside down when, last year, she received a phone call from a doctor that no parent wants to get.
Talia was diagnosed with "CMT4J" which stands for "Charcot Marie Tooth Type 4J." much like ALS, it is a neurodegenerative disease.
"We were essentially told that we would just have to sort of watch her get weaker and weaker and probably ultimately succumb to a respiratory illness like a pneumonia would be the end," said Jocelyn Duff.
Talia was already dealing with challenges.
She was born with down syndrome, which is unrelated to CMT4J, she just happens to have been dealt with both challenges.
But still, Talia is thriving in the sixth-grade at Ipswich Middle School.
"I like to read any book," Talia told Heather.
The disease's crippling effects have already begun to show. Talia is already losing strength and breathing function.
"Tal has gone from a little walker to a wheelchair in the last couple of years," said Jocelyn. "She's lost much of the use of her arms and she's having respiratory problems as well. She has some use of the muscles from her elbow to her fingers, but really has lost most of the motion of trying to lift anything using these shoulder muscles so she needs a lot of help with eating and brushing her teeth and turning the pages of a book."
Because Talia's disease is so rare, no one was researching a cure, but Talia's parents weren't willing to just watch their daughter slip away. So Talia's mom and dad created their own foundation to look for a cure themselves and recruited the world's experts in gene therapy. And Talia's parents secured an NIH grant to fund research.
Now, scientists at prestigious Jackson Laboratory in Bar Harbor, Maine are replacing faulty genes with healthy ones in lab mice, with the hope the FDA will next approve *human* clinical trials, that eventually lead to a cure for CMT4J.
"The FDA has been really receptive to these rare diseases and gene therapy," said Jocelyn.
At the same time, the tight-knit community of Ipswich wanted to help. Parent Rick Gadbois works for a rare disease software company.
"When I mentioned Talia, and the challenges she was having, to the students, they just kind of started on their own -- they were anxious," said Rick Gadbois.
He gathered members of his son's high school robotics team who came up with the idea of building a device for Talia to wear on her arm.
They're calling it "project deltoid" because the muscle they're aiming to help Talia move is her deltoid.
"So anything like eating or pretty much just lifting anything you need to lift this and it also has to rotate out so those are the kind of two - going up and the rotation - are the two degrees of freedom that we're going for," said Annabelle Platt, an Ipswich High junior.
After visiting Talia at her home and spending time with her to be able to understand and address her needs, the students were able to secure a $10,000 grant to fund a prototype.
They work on the project in their basements, on nights and weekends and Skype with mentors and some recent Ipswich High grads who are now in college, for advice.
As for Talia, she seems excited by the prospect of being able to do more things, like eat, brush her teeth, and turn the pages of a book.
The students are still fine tuning the prototype, but their goal is to have it ready for Talia by December.
As scientists funded by Talia's family's organization work towards a human clinical trial, the family's organization, "Cure CMT4J" needs to raise $1 million by the end of this year and between $1 to 2 million next year.
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