Ever since my niece has been diagnosed with Vanishing White Matter Disease (VWM), I have been on a quest to a cure (and feel free to use the hashtag–#findacureforvwm !)
Isabella was just a tiny two years old when my sister noticed, that she seemed to stumble more than other kids her age. Her pediatrician said Isabella would outgrow it. But she didn’t. As she grew, she had trouble skipping and jumping.
When Isabella was four, an orthopedic doctor tested her Babinski reflex and referred her to a neurologist. This was 2009. That’s when we heard “leukodystrophy” for the first time. MRI results were sent to a specialist in the Netherlands, Prof. M.S. (Marjo) Van Der Knaap .
A few months later, she diagnosed Isabella with an incurable, fatal genetic disorder called Vanishing White Matter (VWM).
Currently there is no treatment or cure for VWM. Isabella wears orthotics and struggles to physically keep up with peers. For long distances she uses a wheelchair to move around, especially the airports. In addition to this, she attends physical and occupational therapy and wears protective cap at school. However, she’s as happy as can be and brings laughter to everyone, especially her cousins.
According to the United Leukodystrophy Foundation (www.ulf.org), this disease causes neurological deterioration, and, eventually, coma and death. Fevers and illness can make the deterioration happen even faster.
Children born with this disease appear to be normal. As they grow, symptoms such as muscle spasms, abnormal drowsiness, fevers and loss of muscle coordination appear. There are many different genetic mutations that can lead to this disease. Proffessor Orna Elroy-Stein at Tel Aviv University in Israel is researching a potential drug treatments that could slow the progression of the disease. Many people with this condition do not usually live longer than their 20’s.
Your donations will fund the science that saves the lives of children like Isabella. Please consider donating
via Saving Chloe Saxby or CrowdRise. You can also send a check to: AFTAU, 39 Broadway, Suite 1510, New York, NY 10006
Attn: Joe Huber/Orna VWM research
To learn more about VWM click here.
To read about Prof. Orna Elroy-Stein research click here.
Photo credits ; ~ Joe Changle Sr. — United Leukodystrophy Foundation — 2014 Conference: Baltimore, MD
Written by Isabella’a Aunt Donna Skwirut