By Bryan Sater

The urgent race to cure a rare disease that attacks the muscular system does not happen overnight.

Researchers have made significant progress toward saving 11-year-old Talia Duffs life. Duff suffers from CMT4J, a degenerative genetic disease similar to ALS. But plenty of work remains.

While the Duff family pushes the science of gene therapy to save Talia, fundraising efforts in the community continue and local teens have a plan to help Talia with the challenges of her daily life.

Working toward a cure

The potential cure for Talia exists in the form of gene therapy, where a healthy gene replaces the mutated gene (FIG4), which causes CMT4J.

Scientists at Jackson Laboratory, in Bar Harbor, Maine, have harvested a benign virus, like the common cold, stripped some of its DNA, and attached it to a healthy copy of the FIG4 gene.

Called a vector, this manipulated virus delivers the healthy FIG4 gene into the body by infecting cells in a targeted location, such as motor neurons in the spinal cord.

Theoretically, gene therapy not only stops the disease, but could allow peripheral nerves to heal and give Talia back some of her lost strength.

The gene therapy that could save Talias life could also have a wide-reaching effect on how rare disease are treated throughout the world. Potentially, others who suffer from a one-gene mutation defect could benefit by replicating the same sort of find and replace method that gene therapy proscribes.

Currently, research on mice genetically-altered to have CMT4J is being conducted at Jackson Labs. The mice have received the viral vector and are being studied for their response. Results of the experiment have not yet been published, but the Duffs scientific team expects to make an announcement in the coming weeks regarding the status of the test-subject mice.

Fundraising

While gene therapy has been identified as the potential cure for CMT4J, paying for the process is still a major obstacle. The money raised so far covered the cost of the viral vector creation, but as CMT4J advances its assault on Talias respiratory system, the Duffs continue to face increasing urgency in their fundraising efforts.

Pharmaceutical companies are not inclined to pipeline drugs for a disease that affects less than two dozen people worldwide. And normal scientific channels could take more than a decade, time which Talia does not have.

The Duffs did get some help from Jackson Labs, as the facility allocated money it received from a National Institute of Health grant toward some of the pre-clinical trial expenses.

However, the Duffs still need to raise between $1 million and $2 million in the coming year in order to fund a clinical trial in humans. They have raised nearly $300,000 so far and fundraising efforts are ongoing.

On Oct. 20, the Dare to Be Rare Gala will be Cure CMT4Js biggest fundraiser yet. Between sponsorship, ticket sales and live and silent auctions, the organization hopes to raise nearly $100,000.

Local fundraisers continue to chip away as well, including last weeks Tidbits for Talia at the Mayflower restaurant, flower sales at Ipswich Flowers, ongoing sales of brightly-colored shoelaces in the community, and outreach to major donors for significant gifts.

The amazing Ipswich community has contributed so much to our cause both financially and emotionally, said Talias mother, Jocelyn. Their support means so much to our family. It also lends tremendous credibility as we continue to pursue corporate and private donors beyond Ipswich. We hope they will feel compelled to give once they learn of Ipswich's generosity and the incredible work being done by our scientists in the lab."

Robotic arm

A group of high school students is doing what they can to help improve Talias quality of life. As CMT4J has progressed, Talia has lost most use of her extremities, including her arms and legs, compromising her ability to do simple things, such as lift a fork to her mouth or hold a book to read.

Enter the Ipswich High School Robotics Team. The students have established a four-phase plan to develop a robotic arm to help Talia with some of these regular tasks. They have secured a $10,000 Payne Grant to fund the project and have put together an initial prototype for the robotic arm that Talia will be able to use.

The team intends to accomplish two things with this project, said Rick Gadbois, team mentor, who met Jocelyn Duff at a rare disease conference last fall. Students will invent a device that helps Talia with daily activities, and will also publicize the effort to bring attention to CMT4J, to get funding for clinical research, for treatment and for a cure.

Talias health

While CMT4J weakened her limbs to the point where she depends entirely on a wheelchair, it has now begun to attack Talias respiratory system as well. The involuntary muscles that precipitate breathing are weakening, preventing her from coughing or taking deep breaths.

Three times per day, Talia must submit to a cough-assist machine, which, said Jocelyn Duff, forces air down her lungs and then vacuums it right back out in order to clear out any secretions in the lungs.

In addition, Talia now sleeps with a BIPAP machine, which delivers focused pressure to her lungs while she sleeps. The purpose is to maintain the oxygen saturation in her body at night, thus helping her sleep better and providing her more energy during the day.

Throughout it all, Talia continues to fight, and according to her mother, She is still her amazing, resilient, brave self.

Talias summer

Despite her condition, Talia was still able to enjoy summer as much as any 11-year-old. Her family vacationed in Maine, where she got to kayak, one of her favorite activities.

She took in a Red Sox game with a fellow CMT4J patient who visited from Seattle. The pair went onto the field at Fenway for batting practice and met Sox first baseman Mitch Moreland, who chatted with them.

Talia also began preparing for the start of sixth grade next week by going to locker night at the middle school and gathering her back-to-school supplies.

I think she is excited about school starting again this year, seeing her old friends and making some new ones, said Jocelyn Duff.

Visit link:
Ipswich resident Talia Duff's fight for life continues, family hopes to raise funds for research - Wicked Local Ipswich

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