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.”

13 thoughts on “Vanishing White Matter Disease in Children, The Desperate Need for a Cure”

  1. donna says:

    Dear Global Genes ~ Thank you !

  2. Mel says:

    Hi there and Thank You for your work! My niece was diagnosed last autumn and is now in a hospice, she is still fighting but not waking up. Its so heartbreaking and I am blown away by the great courage of my brother and his wife. I am trying to find a support network of fellow parents they could correspond with I wonder do you know if there is one? With very best wishes, Mel

  3. lauren says:

    My 2 1/2 month old cousin was diagnosed this Thursday and passed away today. They need to find a cure for this. Please pray for everyone who is dealing with it in one way or another.

  4. We at CENTRE FOR LIFE SCIENCES, HEALTH and MEDICINE are working with various neurological disorders few of them are Leucodystrophies, SSPE, Autism. etc’
    Please do visit the website http://www.g-therapy.org
    We will be happy to help children.
    Dr. Oswal and Team.
    0091 98220 38464

  5. francia de la cruz says:

    hello, I have a child with this disease, I wonder if there will soon be something to stop the disease, my son is 5 years old, about 1 year and 5 months was diagnosed, thanks.

  6. francia de la cruz says:

    hello, I have my son with this disease, I too would like to know parents of children with this diagnosis, my name is Francia de la Cruz, I live in texas alamo, my email is magali_1009@yahoo.com thanks

  7. Karen says:

    Hi, I have an 11 yr old that has vwm and I hate seeing what it is doing to him 🙁 he’s being teased at school as well

  8. gwen Bullard says:

    Lat year my 7 year old grandson was thought to have this disease. He currently has septo optic dysplasia and Agenisis of the corpus collosum and Demorisey Syndrome. He was hospitalized after a slight concussion and wasn’t really responding to treatment so he was sent to Duke University Hospital and a Neuromuscular surgeon disagreed with this diagnosis, but the Pediatric Neuro Physician suspected differently. Since he improved some for a few months went through PT, but now he has regressed and is no longer walk or able to stand. His feet are pointing almost totally straight down. Now, we are noticing mutiple bruising whithout incidents, throughout both legs. would any of you happen to know the presenting symptoms in the beginning stages. Thanks Concerned Grandmother.

  9. my friend sophie morris has a sister called bella morris she has this desise she also has a website it is http://www.savingbellamorris.com

  10. Paulette wimmer says:

    My son has been diagnosed with this disease at the age of two,he is now 31. As a mother it was and still is hard for me to see him like this. If anyone would like to talk more about it please feel free to email me at alliedangels@gmail.com.

  11. March 9th 2016 I lost my 11 month old little girl to this disease. It was the most pain a father and mother could ever go through, and rocked my world in more ways then one. But if anyone would like to talk. My email is smcbr2288@gmail.com

  12. Daisy Flores says:

    Hi, my sister has two daughters with VWM. My oldest niece was diagnosed at the age of 1 and it wasn’t until she turned two when it started to hit her. Same thing with my younger niece, at the age of two things took a turn even though she was more active and crawling. One day she just wasn’t her anymore. This is so heartbreaking and I can only hope that one day there will be a cure. We live in Chicago so if anyone has any information please let us know.

Comments are closed.