“We know that a diagnosis of a rare disease is a race against time.”
– Patient advocate Kasey Woleben of McKinney, TX
Will Woleben was reaching all of his developmental milestones as he entered infancy. He was walking, active, social and curious, says his mother Kasey Woleben of McKinney, TX. Then around the age of 2 – for no clear reason – he started tripping. One day he collapsed.
From then on, Will’s health declined rapidly. Doctors have diagnosed SURF1 deficiency, one of several genetic mutations responsible for a rare mitochondrial disease called Leigh syndrome.
“It was such a difficult time in our lives, because I had one child losing his ability to walk and then the other child learning to walk,” Woleben says, recalling the striking role reversals of his two children.
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Like many parents with rare diseases, Kasey and her husband Doug Woleben tried to learn everything they could.
“When you get that rare disease diagnosis,” Kasey says, “all of a sudden your life crumbles in front of you. … You have to learn everything there is to know about your child’s disease. C It’s basically like a med school 101 course.
Frustrated by the lack of resources, the Wolebens joined with other families to create the all-volunteer Cure Mito Foundation to help find a cure or treatment for Leigh Syndrome.
“Families with rare diseases not only look after their children, we are also their main advocates, we are night nurses, we are the ones raising millions of dollars,” says Woleben. “We don’t even know if it’s going to work, but you know what, we’re going to try.”
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Sophia Zilber is a board member of Cure Mito. She and her husband Ross Zilber of Newton, MA lost their daughter Miriam to Leigh Syndrome 6 years ago when she was just a few weeks old. The trauma of his sudden and unexpected death “splits our life” into before and after, Zilber says, “and every word and every minute of that time stays with us forever.”
Channeling his pain toward a purpose, Zilber applies his professional expertise in statistical programming analysis of clinical trial data to create a globally accessible patient registry for Leigh Syndrome. She has dedicated “thousands of hours” to this effort and has shared results already captured from the registry at conferences attracting researchers, patients and industry professionals from around the world.
Patient registries are important in drug development. Rare diseases have tiny population pools and few clinicians are exposed to them, so patients and their caregivers hold valuable information about the history and course of their disease.
“Our goal,” says Woleben, “is to empower families as treatment advocates.”
Now 11, her son Will can no longer walk, talk or eat by mouth. But her condition is stable, and her mental abilities are intact, she notes. His favorite subject is science, as he confirmed on a recent video call with a smile and a thumbs up.
Thanks to Cure Mito’s efforts, which have included funding research for gene therapy and drug redirection, Woleben says his son will “leave a legacy behind” for children diagnosed in the future.