“We know that being diagnosed with a rare disease is a race against time.”
— Patient Advocate Cassie Woolliben of McKinney, Texas
Will Woleben was reaching all stages of his development as he entered the childhood years. He was walkable, active, sociable and inquisitive, says mom Casey Woolliben of McKinney, Texas. Then at about the age of two – for no apparent reason – he set out on the journey. He collapsed one day.
From there, Will’s health deteriorated rapidly. Doctors diagnosed SURF1 deficiency, one of several genetic mutations responsible for a rare mitochondrial disease called Leigh syndrome.
“It was a difficult time in our lives, because one child lost the ability to walk and then the other child learned the ability to walk,” says Woolleben as she recalls her two children’s eye-catching role reversals.
Read about how scientists are repurposing existing drugs to help people with rare diseases.
Like many parents with rare diseases, Casey and her husband, Doug Wolleben, have tried to learn everything they can.
Casey says, “When you get this rare disease diagnosis, all of a sudden your life collapses in front of you. … You have to learn all about your child’s disease. It’s basically like a ‘med school 101’ course.”
Frustrated by the lack of resources, the Wolbens joined with other families to establish the all-charitable Cure Mito Foundation to help find a cure or a cure for Leigh’s syndrome.
“Not only are families with rare diseases caring for their children, but we are also the main advocates for them, we are nurses at night, we are the ones who raise millions of dollars,” says Wolleben. “We don’t even know if it will work, but you know what, we’ll try.”
Read about the huge financial cost to families of a rare disease.
Sophia Zilber is a member of the Cure Mito Board of Directors. She and her husband, Ross Zilber, of Newton, Massachusetts, lost their daughter, Miriam, to Leigh syndrome 6 years ago when she was only a few weeks old. The shock of her sudden and unexpected death, Zilber says, “divides our lives” into before and after, “and every word, every minute of that time remains with us forever.”
Turning her pain into a goal, Zilber applies her professional expertise in statistical programming analysis of clinical trial data to build a globally accessible patient registry for Leigh syndrome. Thousands of hours have been volunteered for the effort and results already obtained from the record have been shared at conferences that attract researchers, patients, and industry professionals from around the world.
Patient records are important in drug development. Rare diseases have small populations and few physicians who experience them, so patients and their caregivers have valuable information about the history and course of their disorder.
“Our goal is to empower families as advocates for treatment,” says Wolpen.
Now 11 years old, her son can no longer walk, speak, or eat by mouth. But she notes that his condition is stable, and his mental skills are intact. His favorite subject is science, he confirmed in a recent video call with a smile and a thumbs up.
Through Cure Mito’s efforts, which have included funding research into gene therapy and drug repurposing, Woolleben says her son will “leave a legacy behind” for diagnosed children in the future.