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Rare Disease Families Advocate For Change

“We know that a rare disease diagnosis is a race against the clock.” 

– Patient advocate Kasey Woleben of McKinney, TX 

Will Woleben was hitting all his developmental milestones as he entered the toddler years. He was walking, active, social, and curious, says mom Kasey Woleben of McKinney, TX. Then around age 2 – for no clear reason – he started to trip. One day he collapsed.

From there, Will’s health declined rapidly. Doctors diagnosed a SURF1 deficiency, one of the many genetic mutations responsible for a rare mitochondrial disease called Leigh syndrome. 

“It was such a difficult time in our life, because I had one child losing his ability to walk and then the other child learning the ability to walk,” Woleben says as she recalls the striking role reversals of her two children. 

Read about how scientists are repurposing existing drugs to help those with rare disease.

Like many rare disease parents, Kasey and husband Doug Woleben tried to learn all they could. 

“When you get this rare disease diagnosis,” Kasey says, “all of a sudden your life crashes in front of you. … You have to learn everything there is about your child’s disease. It’s basically like a ‘med school 101’ course.”

Frustrated with the lack of resources, the Wolebens joined with other families to establish the all-volunteer Cure Mito Foundation to help find a cure or treatment for Leigh syndrome.

“Not only are rare disease families caring for their children, we are also their main advocates, we are nurses at night, we are the ones raising millions of dollars,” Woleben says. “We don’t even know if it’s gonna work, but you know what, we’re gonna try.”

Read about the crushing financial cost of rare disease to families.

Sophia Zilber is on the board at Cure Mito. She and 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 her sudden and unexpected death “splits our life” to the before and after, Zilber says, “and every word and every minute of that time stays with us forever.”

Channeling her pain into purpose, Zilber applies her professional expertise in statistical programming analysis of clinical trials data to building a globally accessible patient registry for Leigh syndrome. She has volunteered “thousands of hours” toward this effort and has shared results already captured from the registry at conferences drawing 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 with exposure to them, so patients and their caregivers hold valuable information about the history and path of their disorder.

“Our goal,” says Woleben, “is to empower families as treatment advocates.”

Now age 11, her son Will can no longer walk, talk, or eat by mouth. But his condition is stable, and his mental skills are intact, she notes. His favorite subject is science, as he confirmed in a recent video call with a smile and thumbs-up. 

Through Cure Mito’s efforts, which have included funding research for gene therapy and drug repurposing, Woleben says her son “will be leaving a legacy behind” for children diagnosed in the future.

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