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“We know that the 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, outgoing and curious, says mother Kasey Woleben of McKinney, TX. Then, around age 2, for no clear reason, he started stumbling. One day he collapsed.
From there, Will’s health deteriorated rapidly. Doctors diagnosed a SURF1 deficiency, one of many gene mutations responsible for a rare mitochondrial disease called Leigh syndrome.
“It was a very difficult time in our life, because I had a son who lost the ability to walk and then the other boy learned the ability to walk,” says Woleben, recalling the amazing role reversals of her two sons.
Read about how scientists are repurposing existing medicines to help people with rare diseases.
Like many rare disease parents, Kasey and her husband Doug Woleben tried to learn as much as they could.
“When you’re diagnosed with this rare disease,” says Kasey, “all of a sudden your life collapses in front of you. … You have to learn everything there is about your son’s disease. It’s basically like a ‘medical school 101’ course.”
Frustrated with the lack of resources, the Wolebens joined with other families to establish the volunteer Cure Myth Foundation to help find a cure or treatment for Leigh syndrome.
“Rare disease families don’t just take care of their children, we are also their main advocates, we are nurses at night, we are the ones who raise 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.”
Read about the crushing financial cost of rare diseases for families.
Sophia Zilber is on the board of Cure Mito. She and her husband Ross Zilber of Newton, MA, lost her daughter Miriam to Leigh syndrome 6 years ago when she was just a few weeks old. The trauma of her sudden and unexpected death “splits our life” into a before and after, Zilber says, “and every word and every minute of that time stays with us forever.”
Channeling her pain toward a purpose, Zilber applies her professional experience in statistical programming analysis of clinical trial data to create a globally accessible patient registry for Leigh syndrome. She has volunteered “thousands of hours” for this effort and has shared the results already captured from the record at conferences that attract researchers, patients, and industry professionals from around the world.
Patient registries are important in drug development. Rare diseases have small population groups and few physicians exposed to them, so patients and their caregivers have valuable information about the history and pathway of their disorder.
“Our goal,” says Woleben, “is to empower families as treatment advocates.”
Now 11 years old, his son Will can no longer walk, talk or eat by mouth. But his condition is stable and his mental abilities are intact, he says. His favorite subject is science, as she confirmed on a recent video call with a smile and a thumbs up.
Through Cure Mito’s efforts, which have included funding research for gene therapy and drug repurposing, Woleben says her son will “leave a legacy” for children diagnosed in the future.
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