This picture below is September 2009 before Brian was diagnosed with Addison's Disease & Adrenoleukodystrophy. And the picture next to it is Brian September 2010.

Picture below, Brian 15 yrs old. His health has been good except for seizures once in awhile.


Picture below is Brian age 18! He's doing AWESOME!!! 

Brian 18 yrs old

 Hi, this is Brian, he is a very active 10 year old boy that loves climbing trees, playing Nintendo DS, Playing Wii,Transformers, Soccer, Legos & Bionicles. He faces a battle that most of us won't  face until we are much older... the battle for his life. Please keep Brian in your prayers & pray that he beats this Disease!!!!! Thanks.

Brian finally decided on his Make A Wish.          He is going to Disneyland, California Adventure, Medieval Times, Legoland Water Park and to Seaworld to swim with the dolphins. He is excited and can't wait to go. Brian has been doing really good, MRI Aug. 16, 2011 to see if disease is progressing. Please say a prayer the progression has stopped.

Brian's MRI showed some changes in his brain, waiting to hear back from his doctor to tell us exactly what he saw. Will update as soon as we hear. 

Update : Brian's MRI showed no changes that means the disease is not progressing and that's FANTASTIC!!!!!!! Also Brian is on his Make A Wish this week, Hopefully I can put some pictures up soon.

As to date Brian is doing AWESOME!!! Cord blood transplant seems to have stopped the progression of the disease. He takes steroids and seizure medicine and has IVIG once a month to boost his immune system.

Brian has been diagnosed with Addison's Disease and X- Linked ALD

Adrenoleukodystrophy (ALD) is a rare and fatal genetic disorder that affects the nerves and adrenal glands. In people with ALD, the enzymes do not properly break down fatty acids. This results in an accumulation of high levels of saturated fatty acids in the brain and the adrenal cortex, which causes degeneration of the myelin sheath (insulation covering on nerves) and the adrenal gland.Currently, there is no known way to prevent ALD.

This terrible disease may claim his life in the next 2 or 3 years.

Brian had a Cord Blood Transplant on February 24, 2010, Cord Blood was used which has a better chance for it to work. This isn't a cure but hopefully it will stop the progression of this terrible disease and give him more time to enjoy life.

Adrenoleukodystrophy, or ALD, is a genetic neurological disorder that affects 1 in every 18,000 boys worldwide. X-linked ALD occurs when the patient inherits the abnormal gene from one or both parents. Since males only have one X chromosome, they will have the disease if they inherit one copy of the mutated X chromosome. Since females have two X chromosomes, they must inherit two copies of the mutated chromosome in order to have the disease. If females have just one copy of the mutated gene, they are called carriers. Carriers of ALD may experience mild symptoms of ALD. This is because the normal copy of the gene can partially compensate for the abnormal one in females. Symptoms of X-linked ALD may develop in childhood or adulthood.  X-linked ALD is the most severe form of the disease. This type only affects boys. Symptoms usually begin between the ages of 2 to 10 years of age. About 35% of patients can experience severe symptoms during the early phase. On average, death results in 2 years, although some patients may live a couple of decades. Initial symptoms include:

  • Behavioral changes
  • Poor memory
As the disease progresses, more serious symptoms develop. These include:
  • Vision loss
  • Seizures
  • Hearing loss
  • Difficulty swallowing and speaking
  • Difficulty with walking and coordination
  • Vomiting
  • Fatigue
  • Increased pigmentation (“bronzing”) of the skin, due to adrenal hormone deficiency ( Addison’s disease )
  • Progressive dementia
  • Vegetative state or death

If loss of brain function becomes severe, patients with ALD may enter into a vegetative state. A vegetative state is a condition of unconsciousness in which an individual is alive, but can't move or respond to his or her surroundings.

Patients with adrenoleukodystrophy (ALD) often exhibit defects in the adrenal glands, (Addison's Disease) which normally produce the hormone cortisol. Cortisol regulates proper glucose metabolism, blood pressure, and insulin release for blood sugar regulation. The adrenal glands in patients with ALD often produce insufficient amounts of cortisol, which may lead to muscle weakness and fatigue, weight loss and decreased appetite, darkening of the skin, low blood pressure, fainting, cravings for salt, low blood sugar levels, irritability, depression, diarrhea, nausea, and vomiting.

 Tests for this Disease are as follows........

VLCFA testing: A blood test or skin test can be used to check for increased levels of very long chain fatty acids (VLCFA).

MRI: A magnetic resonance imaging (MRI) scan may be performed to take pictures of the brain. MRI is a noninvasive imaging technique that uses magnetic waves and radio waves to take an image of tissues within the body. If brain damage has occurred in a patient with ALD, the damaged tissue will appear as white regions in the MRI image. These damaged regions are called white matter.

Genetic testing: A genetic test may be performed to diagnosis neonatal adrenoleukodystrophy (ALD). During the procedure, a sample of the patient's blood is taken and sent to a laboratory. If a mutation is found in specific genes that have been implicated in ALD, the patient is diagnosed with the condition.

Please feel free to leave your comments for Brian and his family on our comments page. Thanks

I want to send a special Thank You to Dave N. who asks Brian's grandpa every day how he is doing. Dave has never met Brian but has been very thoughtful and caring. Brian's family wants to say Thank You for what you did for them. I know it has been awhile but it wasn't forgotten. They have been dealing with some other issues and plan on Thanking you in person hopefully soon.

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