Families with rare diseases support change

“We know that diagnosing rare diseases is a race against time.”

—Kasey Woleben, patient advocate in McKinney, TX

Will Woleben hit all of his developmental milestones as he entered toddlerhood. He was walking, active, social and curious, says mom Kasey Woleben of McKinney, TX. Then around the age of 2 – for no apparent reason – he started stumbling. One day he collapsed.

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

“It was such a difficult time in our lives because one of my children lost the ability to walk and then the other child learned to walk,” says Woleben, recalling the striking role reversal between her two children.

Read how scientists are using existing drugs to help people with rare diseases.

Like many parents with rare diseases, Kasey and her husband, Doug Woleben, tried to learn everything they could.

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“When you’re diagnosed with this rare disease,” says Kasey, “your life suddenly collapses in front of you. … You need to learn everything you can about your child’s illness. It’s basically like a ‘med school 101’ course.”

Frustrated by the lack of resources, the Woleben family, together with other families, created the Cure Mito foundation, which helps to find a cure or treatment for Leigh syndrome on a voluntary basis.

“Families with rare diseases not only care for their children, but we are 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 will work, but you know what, we’ll try.”

Read about the financial costs of rare diseases on families.

Sophia Zilber is a board member of Cure Mito. She and her husband, Ross Zilber of Newton, Mass., 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 lives” before and after, Zilber says, “and every word and every minute of that time stays with us forever.”

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Targeting his pain, Zilber is applying his professional expertise in statistical programming analysis of clinical trial data to building a globally accessible patient registry for Leigh syndrome. He has volunteered “thousands of hours” to the effort and shared the results already recorded from the registry at conferences attended by researchers, patients and industry professionals from around the world.

Patient registries are important in drug development. Rare diseases have small populations and few clinicians who come into contact with them, so patients and their caregivers have valuable information about the history and course of their disease.

“Our goal,” says Woleben, “is to strengthen families as treatment supporters.

Now 11 years old, Will can no longer walk, talk or eat by mouth. But his condition is stable, and his mental abilities are intact, he notes. His favorite subject is science, as he confirmed in a recent video call by smiling and pointing up.

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

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Source: https://www.webmd.com/children/features/rare-disease-families-advocate-for-change?src=RSS_PUBLIC