Ashley Wibberly’s son Levi was born in September of 2013 and lived for just 20 months with Krabbe disease. Ashley couldn’t have seen it coming. Now, however, a new test from Genepath makes it possible to screen for over 60 genetic disorders at birth. The test costs under $1000 and only requires a mouth swab. As a result of her time with Levi, Ashley strongly supports the new test as a way to save more and more children. Keep reading to learn more about Ashley, Levi, and the NextGen screening, or follow the original story here for more information.
What is Krabbe disease?
Krabbe disease is a rare inherited disorder known for destroying the protective coating that surrounds nerve cells. The destruction of this protective coating, known as myelin, results in severe damage to the brain and nervous system.
Krabbe disease is typically observed in babies before they reach six months of age. The earlier in life the disease begins, the more rapid the progression and more likely it is to be fatal. Most children diagnosed with Krabbe disease do not survive past age two.
Childhood symptoms of Krabbe disease include muscle spasms, extreme irritability, fever absent of infection, and loss of head control. Once onset of symptoms occurs, there is no known cure for Krabbe disease.
Levi was born to Ashley Wibberley in September of 2013. By all appearances he was a healthy baby boy. Everything progressed along standard milestones. When Levi reached six months however, things began to change. Ashley noticed Levi had trouble supporting himself. He stopped moving around as much. He lost interest in his food and wouldn’t eat.
Irritability was the next major indicator something wasn’t right. Ashley and her husband Ben would make emergency trips to hospital with Levi on five different occasions in a span of about eight weeks. After the first time, Ashley says, Levi screamed for three days. Every time they rushed to the hospital they were dismissed. Doctors described Levi has only having severe reflux and dismissed Ashley as just another inexperienced first-time mother.
Ashley and her husband decided to take a different approach. They paid out of pocket to see a private specialist. It wasn’t long after that they received an accurate diagnosis. Levi had Krabbe disease.
It’s impossible to predict the future with 100% accuracy. Still, if Levi’s diagnosis had been found sooner, there’s a chance an effective treatment would have saved his life. He might still be here today. That’s the kind of thing that makes Ashley certain that if she had been offered the type of screening NextGen provides that she’d have taken it.
The NextGen screening has been designed by Sydney-based Genepath. The goal was to supplement the traditional tests given to newborns to check health and potential medical conditions. Genepath describes the NextGen screening as capable of identifying at least 50 conditions which Australia currently performs no other screening for.
All the test requires is a simple mouth swab. This sample is then sent to GenePath’s lab in Australia for DNA sequencing. The test isn’t cheap at about $980, but it allows parents and doctors to get ahead of the curve regarding some very dangerous conditions. Ashley describes this as something that is worth any price.
Ashley encourages parents to use the test and believes it should be covered by Medicare. She calls on doctors and the public to help raise awareness and hopes her government will soon back this potentially life saving screening.