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Building a Bridge Between Rare Disease Patients and the Technologies that Could Help Them

June 4, 2024

In recent years, whole genome sequencing has made it easier to diagnose rare genetic diseases while scientific advances have put individualized treatments within reach. Yet, the regulatory processes, typically designed for large-scale drug production, are lagging behind. This, combined with limited funding and a lack of awareness, makes it painfully difficult for people with rare diseases to access the life-saving therapies they so desperately need. Julia Vitarello is hoping to change this.

Mila’s story

Ten years ago, Julia had very little knowledge of genetic diseases, she also had no idea how quickly this would have to change. Her daughter Mila was a typical child for the first few years of her life. Growing up in Colorado, she was skiing by the age of two, was very bright, and was always the center of attention.

However, at around four years, old Mila’s parents noticed that she was becoming clumsy, her feet had started turning in, and she was also getting stuck on her words and beginning to have vision problems. What followed was more than two years of appointments with doctors and specialists who said she would grow out it.

Eventually, with Mila’s condition declining rapidly and nowhere else to go, Julia took Mila to the emergency room at Children’s Hospital Colorado. MRI scans showed mild cerebral and cerebellar atrophy and 24-hour electroencephalography revealed subclinical generalized seizures. Laboratory tests for mitochondrial or metabolic diseases all came back negative until a skin biopsy showed abnormal lysosomal inclusions in a swirling fingerprint pattern that is typical of Batten disease.

Image Credit: Jewel Afflerbaugh

Genetic testing then identified a known pathogenic mutation for Batten disease in the CLN7 gene, confirming the diagnosis. “There were twenty-five known cases in the world at the time,” says Julia. “I went from being scared to really scared and then also relieved that there was an answer. It felt like if there was an answer, I could do something about it—a little naive at the time. Then I was levelled once I started learning what Batten disease was and that no kid had ever lived.”

Receiving the diagnosis was only half the story though. Batten disease is an autosomal recessive neurologic condition that needs two mutations to manifest but only one had been found. Julia knew that she had to find the second mutation. “I was very, very driven to figure out what the other mutation was, so I could fully test my son because I was afraid of testing and only getting half of an answer. Every single day I looked at him I thought I was going to lose both of my children,” she says.

Finding the second mutation required whole genome sequencing (WGS), which was not readily available at the time. One laboratory at Harvard had a 5-month wait and a cost of $25,000. Julia was therefore looking for ways to speed up the process. In January 2017, she put a post on her Facebook page asking for help, which was shared to a physician mom’s group and ultimately found its way to Timothy Yu, MD, PhD, a neurologist in the Boston Children’s Hospital Division of Genetics and Genomics. His lab had extensive experience using WGS and a particular interest in looking for mutations that cause neurologic diseases.

Staff, I. (2024, June 4). Building a bridge between rare disease patients and the technologies that could help them. Inside Precision Medicine.



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