Nicholas, and other children, should not have to miss out on tests that could potentially save their lives
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?
Nicholas’s 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)'
For nearly a year now I have been following other babies around the world with Krabbes, and have prayed and said goodbye to as many as at least one a month. I 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?
Here's is a little story about Nicholas
Our Gorgeous little boy was born a healthy boy weighing in at 8 pounds... After a month or so from taking Nicholas home from hospital he seemed to be very agitated, not sleeping properly not drinking his bottles etc.; (we took him back to our local hospital where he was born, they told us he may have colic and or reflux so we changed formulas and he seemed to settle just a bit). A few months later as things were still not right in my eyes, we contacted our child's nurse and spoke about how out of sorts Nicholas was. We then got referred to a place here In Adelaide called Torrens house where u stay over and work along-side doctors and nurses to try to get to the bottom of what-ever problems u maybe dealing with... So my partner and I stayed at this place for days and as thought our problem was diagnosed as reflux. This team of health practitioners prescribed us with a medication called Losec and we were on this medication for around 6 months...
Things seemed to be going fine and Nicholas was finally achieving some milestones... He started sitting up unaided and was commando crawling able to feed himself hold his own bottle etc. smile emoticon then with about 8 weeks of him doing these things he slowly stopped being able to do them properly frown emoticon we had a cake smash on Nicholas' 1st birthday where he sat fairly well (unaided) for this. Within a week of his birthday he stopped sitting up unaided and stopped crawling. He could no longer hold his own bottle nor feed himself, this is when I realised something was not right
I am starting this petition to as I've sent numerous emails to parliament and they are not hearing just one person. If we all stand together for Nicholas and the fight for the newborn testing, we can save other parents from going through the same devastating thing watching their gorgeous boy not even two slipping away. I hope to 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.
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 superhero Nicholas have to miss out on a test that could have potentially saved his life?
Children with Krabbe Disease do not generally start to show symptoms until around 4 months old, 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.
Please sign the petition and spread the word, we need to make a stand and get the government to enforce new born screening and Cord Stem Cell transplants, which has been successful overseas and bring Australia up to speed with factual researched cures with Stem cell transplants.
Babies out there are counting on us to make a difference and speak up for them!
The Nicholas, and other children, should not have to miss out on tests that could potentially save their lives petition to Government of Australia was written by Carolyn and is in the category Health at GoPetition.