ADRENOLEUKODYSTROPHY is a hereditary neurodegenerative disease during which body can't breakdown the very long fatty acids. This toxic buildup in turn disables organism from the ability to maintain and rebuild protective matter myelin, also known as white matter that insulates nerve cells.
As myelin is being destroyed, nerve impulses (brain messages to the rest of the body) are slowed or stopped completely. This debilitating genetic disease mostly strikes boys (1 in 18,000) ages 4 through 10, although there are rare cases when female carriers have been afflicted with similar or milder symptoms.
Just as happened with our Sammy, adrenoleukodystrophy strikes previously perfectly developing and normal children in two stages. First stage is slow and misleading, but second is swift and devastating.
Initially, the affected boy visibly appears to have symptoms of attention deficit disorder - forgetfulness, daydreaming, difficulty to concentrate, behavioral disturbances and mood swings. This is the critical stage where in most cases the real cause can and should be identified to be quickly acted upon. Alas, this is exactly the period when doctors miss the opportunity to identify the root of the problem and instead jump at treating symptoms. And Sammy was no exception. His doctors prescribed anti-depressants and stimulants Adderall and Focalin to treat ADHD.
The second stage of the disease comes with striking speed and our Sammy is in the midst of it right now. Deterioration in sensory reflexes, extremely slurred speech, inability to maintain balance (leaning on people and furniture to stay erect), insatiable appetite, peripheral neuropathy (he burned his arm and did not even feel the pain) are some of the things Sammy is currently enduring.
The balance of the decease is very tragic and frightening. Loss of sight, hearing, body stiffness, loss of all cognitive functions and ultimately a vegetative state and death occur within 2-10 years from the time patient has been diagnosed.
Are there any treatments? Although there are some new promising clinical trials (which the Zeltsers are desperately trying to get Sammy to), the present treatments have low chance of success. This is how United Leukodystrophy Foundation, www.ulf.org, describes the potency of current solutions.
What are the treatments for X-ALD?
The Zeltsers have agreed to take a chance and subject Sammy to bone marrow transplant, the most realistic actions at this stage. The lab results from Children's Memorial Hospital confirmed that one family member appears to be a match for Sammy.
Beginning February, 2008, the Zeltsers will be very busy taking necessary steps to prepare Sammy for aggressive chemotherapy treatment to be followed immediately with the bone marrow transplant procedure. God willing, transplant is successful; we should be out of the Children's Memorial hospital and home free in the next seven to eight months.
We ask every concerned person to BELIEVE in our success and MIRACLE will happen.
You will be able to review a diary that Gelena Hannah Zeltser will be maintaining with updates few times a week on Sammy's condition in Mom’s Diary section.
To learn more about the disease, click on the following links: