Hoover family is raising money for IV trial.
Published: October 31, 2017
By: Emily Reed
For Jenny and Ryan Bragg, soaking up the special moments with their two children, Tanner and Clara, is a high priority right now.
The Hoover couple’s three-year-old daughter, Clara, has been living with GM1 gangliosidosis since August 2016, a disease that is similar to Tay-Sachs disease and destroys brain function through an inability to process and break down material in neural cells.
“We have been focusing this summer to just get our family together and enjoy the time we have with each other,” Jenny Bragg says. “We don’t know how long we will have with Clara and we want to spend time making memories together.”
The Braggs started noticing a decline in their seemingly healthy baby at about the age of 14 months when Clara stopped meeting the preferred milestones of not walking independently, not talking and using nonverbal communication.
“We noticed she began to plateau developmentally and began regressing, losing the few words that she had ever gained,” Bragg says. “Our journey began to find the cause of these delays and regression. We went from specialist to specialist for an entire year. Ultimately, Clara was diagnosed by UAB/Hudson Alpha through a research study via a genome sequencing DNA test that determined that both Ryan and myself were carries of GM1 gangliosidosis and she inherited both of our faulty genes.”
Meanwhile, at Auburn University, veterinary medicine professor Doug Martin has been studying GM1, which also occurs naturally in cats, for several years.
Martin developed a gene therapy treatment that was successful in cats and is now ready for a National Institute of Health trial for a similar treatment in humans.
One of the major hurdles with the human trial to begin is about $1.5 million in funding, which prompted the Braggs to begin hosting various events in search of a cure for their daughter.
“Within the last year we have had countless fundraisers to help raise money for a human trial,” Bragg says. “We have had dinner nights, brewed beer in honor of Clara, had a fashion show, a Zumba fundraiser, a birthday celebration fundraiser, a crawfish boil, lemonade stands, and a movie theater fundraiser. It has been a whirlwind of events that have paid off greatly. We feel so blessed that people have responded to our efforts and helped in raising funds for a cure to GM1.”
While there is no definitive date for the trial, Bragg says researchers are still working to make the trial happen in 2018.
Once the trial begins, it would involve a simple IV treatment, taking place at the National Institute of Health, and is a one-time treatment administered through an IV.
Participants would stay at NIH for observation for about one week before being released.
“It is scary to think about allowing Clara to be treated with something that has never been used on humans before, not knowing for certain the outcome,” Bragg says. “However, the path is clear for Clara if she receives no treatment. Without treatment, she will slowly die, likely not living to the age of 10. A human trial treatment is our only shot to saving her life at this point in time.”
Currently, Clara is the only diagnosed case of GM1 in Alabama, according to Bragg, but it is believed that there are many more cases of children with GM1 throughout the country that go misdiagnosed, because the disease is difficult to diagnose. “The genome sequencing that Clara underwent that ultimately led us to her diagnosis is not a test commonly performed and can be rather costly,” Bragg says.
Clara is completely dependent on her parents in every way, often times requiring the Braggs to carry her 35-pound body everywhere. “Even though she can crawl, she is not very stable and a constant threat to herself, unaware of any danger she puts herself in,” Bragg says. “She cannot communicate verbally or with gestures, so we typically must anticipate what she needs and wants. We have learned to understand and read her needs based on her daily schedule and watching her eyes, but she often gets frustrated and has a typical three-year-old break down. Caring for her is a challenge we have learned to embrace, but it is a daily challenge nonetheless.”
The Braggs plan to continue fundraising efforts, and welcome suggestions for various ideas and volunteers. For anyone interested in donating for the trial, tax deductible donations can be made at www.ACureforClara.com. All funds raised or to be raised will go to the Cure GM1 Foundation, a 501c3 organization.
Emily Reed is a freelance writer and stay-at-home mom to her son, Tobias.