Crowdfunding for life
This Rare Diseases Day (February 28, 2017) will be a particularly hopeful one for families of children suffering from Vanishing White Matter (VWM), a rare and fatal brain disease.
Prof. Orna Elroy-Stein, a cell biologist at Tel Aviv University (TAU), recently reached a breakthrough in her research on the disease, identifying several drugs that cured affected cells in lab experiments.
This milestone is the fruit of a unique marriage between Elroy-Stein and a group of unrelenting families from around the world, who accelerated her research through intensive grassroots fundraising and activism.
“This is a very exciting phase,” says Elroy-Stein. “It proves that all of the efforts by the families have helped us. More importantly, it gives all of us hope.”
Yet, the glimmer of optimism comes with a redoubled sense of urgency. Most children with VWM don’t survive their teens, and every advance in Elroy-Stein’s research has the potential to save another member of the global VWM community.
Vanishing White Matter is a genetic neurodegenerative disease, with less than 1,000 cases reported around the world.
The “white matter” is myelin, fatty tissue that insulates and protects nerve fibers in the brain and the cells that produce the tissue itself. Myelin recedes in everyone following physiological stress, such as a virus or head trauma, but in healthy people it regenerates itself, and the body continues to function normally. People with VWM have a genetic mutation that causes myelin to form less accurately and regenerate more slowly. Symptoms usually appear in the toddler years, when regular childhood occurrences, such as the flu or bumps to the head, cause myelin recession, and the children never fully recover. As a result of additional stress events, the clinical symptoms intensify and the nervous system eventually collapses, leading to coma and death.
Prof. Orna Elroy-Stein
Enter Orna Elroy-Stein, a professor in the Department of Cell Research and Immunology at TAU’s George S. Wise Faculty of Life Sciences, who studies the regulation of gene expression and specifically the control of protein synthesis. Failures in tight regulation result in many diseases, including cancer and neurodegenerative diseases like VWM. Fifteen years ago, Elroy-Stein heard about VWM and was intrigued by the fact that EIF2B, an essential factor in protein synthesis in all cell types in the body, affects only the brain.
Around that time, Dr. Raphael Schiffmann, the neurologist who discovered the disease, mentioned Elroy-Stein’s research to Thomas and Patricia O’Brien, a couple from the Boston area, whose adopted daughter Marisol had recently been diagnosed with VWM. O’Brien, whom Elroy-Stein describes as an exceptionally warm and charismatic man, contacted her immediately and came to their first meeting armed with a photo of a smiling Marisol.
“You have to work on this,” he said to Elroy-Stein. That meeting was a fateful one; soon after, Elroy-Stein decided to dedicate her career to understanding and treating Vanishing White Matter disease.
Elroy-Stein created mouse models of VWM using Marisol’s mutation and named them Marisol mice. To this day, she keeps a picture of Marisol, along with other VWM kids, in her office.
Marisol died in 2008 at the age of eight, yet the O’Briens continue to fund Elroy-Stein’s research through a foundation they set up in Marisol’s memory. Elroy-Stein remains in close contact with the O’Brien family.
After the O’Briens, a steady stream of parents from around the world turned to Elroy-Stein seeking information about the disease and her research. In Elroy-Stein, they found a savior, a thread of hope amid their suffering.
“I communicate with them. This in itself encourages them. I tell them that we are doing our maximum to understand the disease.”
Nick and Allyson Buck with Prof. Orna Elroy-Stein (second from left) and Sam Buck, who was diagnosed with VWM in 2013.
With Elroy-Stein as an address for a potential cure, the families have banded together to raise money to accelerate her research. They organize fundraising events at their offices and in their communities and have launched an energetic social media campaign, in partnership with Tel Aviv University and its Friends Associations around the world.
At the head of the current campaign is Donna Skwirut, of Palos Park, Illinois. Skwirut, whom Elroy-Stein describes as an “extraordinary woman,” is the aunt of 11-year-old Isabella, of Romeoville, Illinois, who suffers from VWM. Skwirut and Elroy-Stein are in regular contact.
Other families from around the world, including the UK, Australia and Spain, have mobilized their communities to raise substantial funds to support Elroy-Stein’s work.
“It’s a rare combination of a perplexing scientific conundrum and the very unique personalities of the people involved that came my way,” says Elroy-Stein of the movement that has “swept the VWM world.”
Now that Elroy-Stein’s team found potential drug matches at the molecular level, the next step will be to test them on mouse models.
If the tests are successful, Elroy-Stein will propose the therapies to drug companies for clinical trials, via Ramot, TAU’s technology transfer arm. Drug companies are eager to produce drugs for “orphan” diseases because the Federal Drug Administration (FDA) approval time for such drugs is much shorter than with other medications, she says. Her findings may shed light on other related diseases, she adds.
“I feel that pursuing a VWM cure is my purpose in life. I don’t dare stop and let these people down,” Elroy-Stein says. “I am totally committed to them, emotionally and professionally.”