Heartbreak and Courage: A Family’s SCA7 Story
Most people have never heard of SCA7. For members of the Balling family, the disease has been a part of their lives for generations.
SCA7 (spinocerebellar ataxia type 7) is a rare, inherited disease characterized by progressive degeneration of the brain’s coordination center and destruction of the rods and cones in the retina. People with SCA7 experience difficulty walking, swallowing and speaking. Vision at the eye’s center declines, resulting in visual impairment and in some people, total blindness. Currently no effective treatment to slow symptoms or cure the disease is available anywhere in the world.
The story of a family with SCA7 is a story of loss. Loss of family members, motor skills, personal dignity. At 32, Mandee Balling Hardie has been dealing with SCA7 symptoms, including decreasing vision, for 10 years, and throughout her life she has watched her loved ones suffer with and die from the disease.
Her mother, Cindee, died from SCA7 two years ago at age 56 after battling the disease for 28 years as it slowly robbed her of her mobility, communications and speech. Mrs. Balling was one of five siblings in her family who had the disease. Her brother died at 6 months of age from SCA7 and a sister at age 2 from the disease.
“My mother started having symptoms when my younger sister, Aubree, was born, and she knew exactly what it was,” Mrs. Hardie says.
In the early ’90s, the Ballings took their five children to the University of Utah to undergo a newly developed genetic test for SCA7. The test showed that Aubree and Mandee had the genetic mutation for the disease, but their three older brothers did not.
Despite the disease’s genetic component, its course is different for every individual. Mrs. Hardie first noticed her vision worsening when she was in college, where she roomed with her cousin who also had SCA7 and has since died. However, Aubree, 28, developed symptoms as a young teenager. Her disease has progressed much more rapidly, and she is wheelchair-bound. “Except for my sister, everybody in my family who had the disease is gone,” Mrs. Hardie adds. “It is a long, drawnout process.”
When Mandee and her husband, David, wanted to start their family, they were determined to do what they could to reduce the risk their children would inherit this horrific disease. The Hardies underwent preimplantation genetic diagnosis and in vitro fertilization, and consider themselves fortunate to have four healthy children, so far with no symptoms of SCA7.
The children, including a set of twins, are the light of Mrs. Hardie’s life. Sadly, she remembers what it is like to have a mother with SCA7. “When she couldn’t do things any more, she just loved us,” she recalls with a catch in her voice. Not knowing what the future holds for her, David and their children, Mrs. Hardie only says she intends to do as much as she can as long as she can.
The Hardies, Aubree and the rest of the Balling family have been walking a difficult road together for many years. “There is no treatment, nothing you can do to help,” Mrs. Hardie says.
But now the family has something important they did not have before – hope, in the form of Albert La Spada, MD, at the University of California, San Diego and a Gund-Harrington Scholar. Mandee and Aubree’s father, Richard Balling, a civil engineering professor at Brigham Young University, came across Dr. La Spada’s name and body of work during his intensive research into SCA7. He was elated to learn that Dr. La Spada is pursuing a promising treatment for the disease.
The family traveled from their home in Utah to California to meet with Dr. La Spada, and for the first time they felt optimistic about the future. “First, just the fact that he is studying our disease is amazing,” Mrs. Hardie says. “And what he has found is amazing. With his drug, he can reverse the disease in mice. It’s so promising.”
Mandee and Aubree are already enrolled in Dr. La Spada’s SCA7 registry. By recording baseline measurements of people who have SCA7 and have symptoms, the registry creates a reference point for the clinical trials the sisters are eagerly anticipating.
“When they start testing Dr. La Spada’s new drug, they will be able to mark our progress against baseline,” Mrs. Hardie explains with a note of excitement in her voice.
“Dr. La Spada has given me hope where before I had none,” she says. “Just the hope of what his drug can do is so amazing.”