Imagine for a moment that a child you love, perhaps your son,daughter, granddaughter or niece, was unexpectedly diagnosed with one of those “parent’s worst nightmare diseases.”
What would you do?
In this instance, the monster disease is Leukodystrophy called Vanishing White Matter Disease.
Vanishing White Matter disease (VWM), also known as Childhood Ataxia with Central Nervous System Hypomyelination (CACH), is a devastating condition that destroys myelin, the brain’s white matter. Unfortunately, there is no known cure or form of treatment for this disease. Symptoms generally appear in young children who appear to be developing fairly normally. A diagnosis is usually made in the early years of life at around two to six years old. According to the United Leukodystrophy Foundation, What is Leukodystrophy?, it is one of 40 known forms of leukodystrophy.
Like many of you, I was once ignorant about VWM. I never heard of the disease and the thought of it ever affecting my life never even crossed my mind. But then in 2009, my niece was diagnosed with VWM Leukodystrophy, and ever since that moment I’ve been searching the web like crazy, day and night, trying to help my sister save her daughter.
I can still remember clearly the day my sister told me about the MRI results, and how they showed signs of Leukodystrophy. I was devastated, and the more I read about Leukodystrophy the more horrified I would get. My heart sank when in one article I read stated, “These disorders are progressive, meaning that they tend to get worse throughout the life of the patient.”
All Leukodystrophies are a result of problems with the growth or maintenance of the myelin sheath. However, there are many genes that are important in this process. Leukodystrophies also share some common characteristics with Multiple Sclerosis (MS). The symptoms of the individual Leukodystrophies may vary because of the differences in their genetic cause. Whereas Leukodystrophies are generally caused by a defect in one of the genes involved with the growth or maintenance of the myelin, MS is thought to be caused by an attack on the myelin by the body’s own immune system.
VWM/CACH is a recessive genetic disease, which occurs when both parents are carriers and each contributes an allele to the embryo. In other words, the individual diagnosed with it inherited one copy of the ‘bad’ gene from each parent, who also inherited the gene from one of their own parents. There is a 50:50 chance that any carrier will pass on either the good or the bad version to their children. Because the disease is so rare, it means that several people in a family can be carriers without ever knowing it. Once the genetic diagnosis is made, it may be possible to screen family member who wishes to know if they are a carrier.
While there is research currently being conducted, there are no treatment options available for VWM disease. Prof. Orna Elroy-Stein from Tel-Aviv University is one of the few researchers in the world studying VWM disease. She is focused on research surrounding VWM disease and finding a cure for VWM. The process of finding a cure is very tedious and expensive, and consists of several phases. Currently however, there is no major funding dedicated to VWM research. Without funding there is no hope for a cure, which is why I’ve decided to stop waiting for an answer and put matters into my own hands. Last month I began to organize a “Find a Cure for VWM” research fundraiser in the hopes of raising $100,000 by July 21, 2013. We need to help Prof. Elroy-Stein find a cure for VWM disease and save my niece!
You can also follow us on facebook, see the event page “Find a Cure for VWM.”