Forum Guidelines: 

This site is not intended to replace the advice of a medical professional, so please do not use the forum to get guidance on clinical, medical issues.  

Please be courteous and do not use obscenity or engage in personal attacks.  This site is overseen by a moderator, and she may delete a comment or restrict your access to the site.  If you have a question, please feel free to send a message  to us and the Leukodystrophy Family Forum moderator will  respond and provide assistance.   We do reserve the right to remove a posting. 

Find a Cure for VWM
Aug 7, 2017

Crowdfunding for Life

0 comments

Edited: Aug 7, 2017

Activist parents propel Tel Aviv University (TAU) scientist to find cure for devastating disease Prof. Orna Elroy-Stein, a cell biologist at 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. About VWM 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.” https://english.tau.ac.il/sites/default/files/media_server/samvwm580.jpg Nick and Allyson Buck with Prof. Orna Elroy-Stein (second from left) and Sam Buck, who was diagnosed with VWM in 2013. Global Mobilization 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. 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.” To donate to Prof. Orna Elroy-Stein's work at TAU, click here. Follow the campaign on Facebook at Find a Cure for VWM.  Originally written and published by TAU: https://english.tau.ac.il/impact/VWM

 

 

New Posts
  • wrwoodar
    Jul 20

    My son will be 3 yo in october and was diagnosed with spastic diplegia/CP about 2 months ago. Peds neuro ordered MRI to look for signs of CP and there turned out to be white matter injury worrisome for metachromatic leukodystrophy. He has always met his milestones aside from gross motor, primarily with balance and unsteady gait when walking. He does not jump or run but he seems to climb well. Fortunately at this point, he has not shown any regression of skills. Genetic tests are pending. If the tests are negative, has anyone ever encountered being told their child has leukodystrophy and it actually turned out to be CP? Thank you for you responses and support and God bless
  • April Garcia
    Jun 3

    I received a phone call 2 weeks ago from the Seating and Mobility Clinic asking if Jackson (our son) needed to make an appointment to have his adaptive stroller refitted. I told the representative that Jackson had Krabbe Disease and that he wasn’t with us anymore, that we had not been able to be with him since October of 2016. The representative apologized and said “I hope he is getting the care he needs” and we ended the call. Once I hung up I realized that due to my brokenness and inability to verbalize exactly where Jackson is I lead the representative to assume due to the Krabbe Disease that we were no longer able or willing to care for Jackson and that he was being cared for by someone else. I immediately called back and luckily got the same representative and explained that Jackson transferred to heaven and even though that information would not change anything within their company that I could not allow any misunderstanding that we ever gave up on Jackson or that we voluntarily let him go. The representative gasped with new understanding and offered heartfelt condolences. I hung up and let loose a silent soul shaking cry for 2 full minutes before returning back to work.
  • Maria Kefalas
    Jul 29, 2018

    Most days, the grueling routine of caring for a child with leukodystrohy takes a toll. But then, there are organizations and people who can make this journey just a little easier by seeing the beauty of kids with leukodystrophy and welcoming families into their home. The Philadelphia Eagles (and the amazing Julie Hirshey, the director of community relations for the Eagles) have been champions for kids with leukodystrophy and the Calliope Joy Foundation from the very start. We are so proud to host our biennial gala in 2019 at Lincoln Financial Field. And, we were thrilled to learn that the Eagles were hosting our friend Kendall, who has metachromatic leukodystrophy, at this year's Eagles training camp. This photo sums up the amazingness that the Eagles make possible for families in our region. We could not be more proud to work with this incredible organization. Thanks to Cindy Williamson for sharing this photo. Yah, that's Super Bowl MVP Nick Foles with our friend Kendall and her mom Cindy and pop-pop Stanley.

Together, We are stronger

© 2017 Leukodystrophy Family Forum . Proudly created by CAZ Media Design