Olivia always loved to learn. Meeting all of her developmental milestones early, she had a thirst to understand the world around her. But as she entered school, it all began to change. Remembering things already learned and understanding new concepts became difficult. Her behavior was a challenge, and her teacher was adamant she couldn’t see the board even though Olivia had seen several eye specialists.
Testing began and diagnoses were made, but they were all incorrect. What Olivia really had was juvenile Batten disease. Often misdiagnosed, Batten is a neurodegenerative disease that takes once perfectly healthy children and over time robs them of their vision, motor skills, speech, plaguing them with multiple seizures. Ultimately, this fatal disease leaves them trapped in their own bodies all while remembering what life used to be like.
When Olivia received her diagnosis in 2011 at the age of 7, there was no cure and no treatment, devastating her family. But they knew they couldn’t just sit by and watch the disease take their daughter. They began searching for answers and for hope. They connected with Dr. David Pearce, the president of research at Sanford Health in Sioux Falls, South Dakota. One of the world’s foremost experts on this rare childhood disease, Dr. Pearce began working with Olivia and her family.
Now, the team at Sanford Health has made groundbreaking strides in their knowledge and understanding of this disease. They have produced the world’s first pig models for Batten, which in just six months has led to a clinical trial using gene therapy for another type of Batten disease to try and stem the tide for kids like Olivia. This promising first step has given families who have lost so much unprecedented hope. While Olivia, now 12, is blind and struggles with many challenges, her sense of humor and her love for her family has never left her. And each day her parents and older sister hope that a breakthrough will be made to help give Olivia the big, meaningful life she and all kids with Batten deserve.