To Fight to save the lives of our boys
by bringing about awareness through education
to our community and medical professionals
about the early onset symptoms and
diagnostic test for ALD.
To provide information to emergency room
physicians, nurses and attendants,
pediatricians, ophthalmologists, endocrinologists,
ADHD physicians and centers,
and school nurses and teachers.
We aim to take away the mystery of ALD and
replace it with knowledge and understanding
of this devastating disease that is affecting our families.
Trying to understand Adrenoleukodystrophy (ALD) and the other disorders associated with it seems nearly impossible when you consider how little is really known, even though it was discovered over two decades ago. What is known is that ALD is an X-linked chromosome genetic defect that affects approximately one in 15,000 people with the most severe form of the disease affecting boys in childhood. Far too often those boys are either misdiagnosed or ALD goes undetected until it has progressed too far for any viable treatment to be affective. Many adults are misdiagnosed with MS and don’t find out about ALD until a son presents with the pediatric onset .
Kennedy Krieger Institute developed the diagnostic test for ALD. After having tested family members of nearly 1600 boys who tested positive they discovered more than 20,000 relatives who were also affected., many of whom had been misdiagnosed.
Once diagnosis is made, it is still nearly impossible to determine how each boy, man or woman will present with the disease as there are currently 1011 mutations of which 501 are unique mutations as identified in the X-ald.nl data base.
We lost our son just six months after his diagnosis, which came about six months after he began exhibiting some of the most common symptoms, which were quickly dismissed as other maladies by his physicians. Once a correct diagnosis was made, I found it very difficult to get answers or help and I spent many hours researching. It was exhausting, devastating and aggravating, to say the least, and my intent is to bring as much of the information that I came across in my search for answers to one place, this web-site.
If you are reading this because your family has been affected by ALD, my heart goes out to you and I hope you find this information helpful. If you are reading this to learn more about ALD, please join the fight and pass the word on so that we can continue to Fight Illness Through Education.