- Posted February 6, 2014 by
This iReport is part of an assignment:
Living with a rare disease?
Surviving Adrenoleukodystrophy (ALD)
- JacqueCNN, CNN iReport producer
Adrenoleukodystrophy, or ALD, is an x-linked metabolic disorder, characterized by progressive neurologic deterioration due to demyelination of the cerebral white matter. Brain function declines as the protective myelin sheath is gradually stripped from the brain’s nerve cells. Without that sheath, the neurons cannot conduct action potentials—in other words, they stop telling the muscles and other elements of the central nervous system what to do.
Childhood cerebral demyelinating ALD. This is the most common form of ALD, representing about 45% of all ALD cases. It is characterized by an inflammatory process that destroys the myelin, causing relentless progressive deterioration to a vegetative state or death, usually within five years.
Adrenoleukodystrophy: A rare disorder which has characteristic symptoms of Addison disease (adrenocortical insufficiency) and Schilder disease (cerebral sclerosis). Bronze skin, brain sclerosis and demyelination are the main symptoms.
I come from a family of six girls. Females are carriers of ( ALD ) Adrenoleukodystrophy. My family had no clue of this disease until my nephews were diagnosed with it . By the time they were diagnosed it was too late for any treatment. It is so heartbreaking that they lost their vibrant young lives to this monster. It is also at this time my family was alerted to have all of us girls and our children tested to see if we too were carriers.
We found out that just my sister Loretta and I are carriers in my family and I passed ALD on to all three of my boys. Now,with us knowing that my boys had this at a early age we were able to monitor them with regular MRI's. In April 2006 Owen's MRI showed damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. August 4 , 2006 Owen received a 4 out of 6 match double cordblood transplant. Just weeks after Owens transplant we were told that Dylan would need one too. On Oct. 4 , 2006 Dylan received a 6 out of 6 match live bonemarrow transplant.
Today my boys are doing Great and they are Proof that EARLY detection Can save these boys. Jacob's MRI's remain clean and he remains asymptomatic. It breaks my heart that Billy and Chad had to be the Screening for my family. ALD really needs to be added to the all newborn screening panels. No family , No child should have to go through what my family has been through. Life today is good , my boys are not just surviving but they are thriving because of Early detection and BMT.
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