“Several years ago Jacey Mukka reached out to me to ask me if I could save her little sister, Karli,” says Dr. Jan Nolta, researcher at the University of California at Davis (UC Davis) Institute for Regenerative Cures. “We did not have anything to offer her; we were not even close to the adult trials yet. Karli passed away [at the age of 13]. It broke my heart.”
The seed was planted, though, and Nolta never forgot about Jacey’s request.
“While working toward our CIRM-funded clinical trial for adult HD,” Nolta said, “I continued to think about JHD (Juvenile Huntington’s disease) daily, going to JHDkids.com and watching the videos to keep myself working even when I was tired, even through treatment for breast cancer (I am okay now). With this motivation, we have continued to work quietly but intently on our strategies that could be used to treat JHD, which is far more aggressive and quickly progressing than adult HD, over the past years.”
The more Nolta thought about JHD, and the more she watched the videos of kids with JHD, the more determined she became that something had to be done.
“Joining Facebook one year ago, over the holiday break,” Nolta said, “I connected on a more personal level with many families and wonderful kids who are affected by JHD. I do not have time to log in every day, but when I do, I get a huge dose of renewed inspiration and then go back to work. Posts from the families and the young people themselves who are affected (like Jacey) help me understand the ravages of JHD, and my commitment has grown to be even more intense through these interactions. I share things with my lab members, and they are equally motivated. We also have several young lab members who are at risk, and who we love, and this provides motivation as well.”
Enter Katie Jackson, president of Help 4 HD International Inc., a 501(c)(3) organization, and ardent stem cell advocate. As the wife of a man with Huntington’s disease and the mother of three children at risk for JHD or HD, Jackson began to fear for her children. She also realized that JHD was almost never talked about at the many conferences she attended.
“It’s my worst fear,” Jackson said. “I just can’t imagine what these moms [of kids with JHD] are living through. These are our babies. They need help.”
Jackson called Nolta one night and shared her fear about her children, especially with her husband’s CAG repeat being so high. She asked Nolta if there were any way Nolta could start doing JHD research in the lab at UC Davis. Nolta told her that they’d already started, so Jackson made a commitment to raise money and raise awareness. She said she’d write letters to philanthropists who give money just to children’s causes and also decided to host a JHD walk to help the JHD/HD community come together, to give them hope, and to raise awareness among the general public.
This inaugural walk, Saturday, June 13, 2015, 8:30 a.m.-1 p.m., at McKinley Park in Sacramento, California, has already had a phenomenal response. According to Jackson, monetary donations from sponsors and individuals have already reached over $7,000. Every penny of net proceeds will go to support Nolta’s JHD Initiative, the first ever clinical research for Juvenile Huntington’s disease. “In-kind” donations (raffle prizes and silent auction items) are coming in daily.
According to Nolta, under ten percent of HD cases are in people under 18, but, she says, “We are not sure how accurate that is. JHD is caused by the same CAG repeats in the DNA (often, but not always, a longer stretch of repeats) and is different, with seizures and other problems that are unique. We don’t know exactly how the two diseases (HD and JHD) differ, and more study is needed.”
The JHD Initiative at the University of Iowa is collecting data to better understand the disease, and Nolta is hopeful that this data will help her lab in developing stem cell and gene therapies to treat or even cure JHD.
“We are developing strategies that will actually modify the DNA or shut down the mutant gene,” said Nolta. “This would help with adult HD as well.”
Honoring her commitment, Jackson has been working on the JHD Kids Walk for six months. With sponsors Teva CNS, Auspex, Raptor, and Wal-Mart covering most of the cost of the walk, Jackson emphasizes that every penny of net proceeds will go to support Nolta’s research. Items donated by community businesses and organizations for a raffle and a silent auction will raise additional money for the research. Registration, which is $25, includes a T-shirt, lunch, and entry into the raffles. Thirteen-year-old Cameron Brown, who suffers from JHD, is this year’s official honoree and Poster Child for the Juvenile Huntington’s Disease Kids Walk, the first JHD event ever held in the United States.
Currently, Nolta’s lab is working on two different strategies, a gene therapy/interference study and a gene editing study. Although Nolta is not certain when the research will translate into clinical trials, she says, “Our proposed studies will be accomplished and translated into a clinical trial for Juvenile HD as rapidly as possible. For JHD, we know that every hour counts.”
One of the most exciting aspects of the walk, for Jackson, is that JHD moms will be meeting each other for the first time in person. Thanks to a generous donation from an anonymous source, moms from as far away as Iowa, Georgia, and Florida, moms who have been each other’s lifelines through social media, are flying to Sacramento, where they will meet face to face, participate in the walk, and even get a personal tour of Nolta’s lab.
“The JHD trials are important to me,” says Denise Hudgell, from Iowa, “because I have a nine-year-old son, Aidan, who has JHD. A trial would mean that there is a chance to stop this disease from taking more and more away from him, a chance at doing things that his friends can do that he can’t. I would be willing to have Aidan participate in the trial. I believe that it would be his best chance at defeating this monster. Our family wants our little boy to have the best chance at a long, happy, pain-free life.”
The trials offer the first hope ever to many who have lived for years without hope.
“My son Cory is 20 years old and in the last stages of this disease,” says Stacey Sargent, from Georgia. “IF he were able to participate, and just receive some comfort from the dystonia and have more quality of life, we would be first in line. Cory was a misdiagnosed child (autism, cerebral palsy) for years prior to the JHD diagnosis when he was 15 years old.”
Even if you cannot attend the walk, donations are encouraged and welcomed. “We appreciate any donation and will put each dollar to good use,” Nolta said. “We do not like to take money from the families suffering from this disease. I would wish that those funds could be used instead to make the kids happy or their lives easier. But sometimes friends will want to help in some way.”
Katie Jackson is passionate when she says, “These children deserve a voice. Even though JHD is rare, that doesn’t mean they don’t deserve a voice. These children haven’t even had a chance to live. With [CAG] expansion, I think we’re going to see more and more cases of JHD. These are our babies. This monster has to stop.”