From the information given to us by consultants and the constant research we've done, We've come across articles/websites of the research and knowledge into the testing and treatment for babies, please see link bellow;
I am urging people to consider how a parent of any child would take the news, when health consultants tell them, their child has only so long to live..
Well My husband and I were put in this predicament on Tuesday 20th May 2014, when our 8 month old son's Neurologist diagnosed him with a disease called 'Krabbe Disease'. This disease belongs to the Leukodystrophy family.
What is Krabbe Disease?
Krabbe Disease is an inherited disease (coming from both Mother and Father) that effects the central and peripheral nervous systems.
Those who inherit the disease and show the symptoms, lack the important enzyme the body needs. The enzyme missing creates Myelin, Myelin is the creator of the protective covering of the nerve cells. The easiest way to think about how this can effect a body is to refer it to a power cable. When a power cable covering starts to deteriorate the inside cables start to be effected until one day they completely stop working. This is pretty similar to what is happening inside our little boys body.
Children with Krabbe Disease do not generally start to show symptoms until around 4 months old (This is when our little boy started showing signs as well) by this time babies are to far gone to be able to treat them. Treatment needs to start as soon as or not long after birth. Babies with the disease will never be cured of the disease but receiving a 'Cord Stem Cell Transplant or a Bone Marrow Transplant' before symptoms show, will holt the disease of ever progressing, leaving babies to go on and live a relatively normal life.
Why do we need your help?
Our sons condition could have been picked up at birth by a simple test that is already being carried out all over the world - 'The Guthrie Test (Heel prick test)'
Why wasn't is picked up?
Because this condition is not included in the test due to how 'rare' is it. My biggest questions is Why should it matter to how rare it is, are we not all equal in some way or another? Why did our son have to miss out on a test that could have potentially saved his life?
We’re not asking for compensation or to be a hero, we just want the testing to be carried out for future babies, no one should have to go through what we are going through and any other families going through the same thing.
What can you do the help us?
We’re starting this petition to hopefully get the ball rolling to create something bigger, this test needs to be available for all babies at birth. This disease is a silent killer and not an easy one to diagnose as they get older.
Please sign the petition and spread the word, babies out there are counting on us to make a difference and speak up for them!
The Make Leukodystrophy testing compulsory for the Newborn Screening petition to Department of Health was written by Ashley and is in the category Health at GoPetition.