By Sam Gilkey
For the News-Gazette

Nine-year-old Gabriel Grigsby, of St. Cloud, would have a difficult time pronouncing, much less spelling, the disease that he has.

It’s adrenoleukodystrophy–or ADL.

Gabe’s parents say he just refers to it as “his problem.”

“His problem” is an inherited recessive genetic disorder linked to the X chromosome. And because of the way genetic inheritance works, only boys have the most severe form of ALD.

“He started manifesting what we thought was a lazy eye in the summer of 2010,” said his father, Peter. “We are fortunate the ophthalmologist recognized some other symptoms.”

“By the time he had a MRI during Christmas vacation,” Dawn, Gabriel’s mother said, “there were severely abnormal results.”

In a Nov. 2010 paper, Mary Kugler, a registered nurse, wrote that ALD affects about one in 20,000 males.

Myelin, the insulation around nerves, breaks down over time. The disorder leaves the body unable to break down fat molecules. Those molecules build up and clog up cells and hurt the nerve cells in the brain and spinal cord.

There is so far no complete cure for cerebral ALD. However, there are some methods that seem to slow down the disease. The 1992 movie “Lorenzo’s Oil” brought ALD to national attention. “Lorenzo’s Oil” which is a combination of olive and rapeseed oils if started early in boys with ALD, but with no symptoms, has shown to have some benefit in some cases.

One treatment is bone marrow transplant. That would replace cells with a defective ALD gene with cells that have a normal ALD gene.

However, both treatments have not been recommended for Gabriel.

“A doctor has said the bone marrow transplant is not an option,” Dawn said. “The only medication Gabe is on is hydrocortisone. That is to replace what his adrenal gland is not producing.”

Despite a deterioration in some of Gabriel’s functions and activities, those changes are advancing much slower than most patients his age experience.

“When he was diagnosed the doctors were thinking six or seven months and he would not be able to walk or see,” Peter said. “But this hasn’t happened. His walking is a bit hesitant. His vision and hearing are fine. However he can’t focus on specifics. He can hear you. But in a room with other voices he will hear everything else going on.”

“He cannot write his name,” Dawn added. “His mind tells him he is writing properly. But the message from the brain is not going to the body.”

“These boys (with ADL) look like any normal child,” Peter said. “They don’t look sick. There is nothing outwardly visible to indicate anything is wrong. The symptoms are in the brain. And the mental part will ultimately affect you physically.”

The Grigsbys will be in Baltimore Monday to see Dr. Gerald Raymond the foremost specialist in ALD. They are hoping the slowing of Gabe’s symptoms may mean a change in his future treatment.

Meanwhile they are participating in a worldwide walk Saturday meant to bring the disease and what parents can do to detect it more to the forefront.

“We will be walking on the St. Cloud lakefront from about 9 to noon. It’s an informal way to give out some information to parents with newborns,” Dawn said. “Early testing of a child is crucial to detecting ADL. Parents should ask for a long-chain fatty acid blood test as soon after birth as possible. When the ADL gene has been found there is a 98 percent curable success rate.”

“There are some families where all the boys have the gene,” Peter added. “However this is not always the case. Our other son does not have it and never will.

“If you can catch it at infancy, you can stop it. The symptoms come between 8 and 12 years. The best thing parents can do is research your family’s history and run every test you can. Doctors may say you have a healthy child, but Gabriel appeared to be a healthy child when he was born.”

More information about ADL and Gabriel’s condition can be found at www.carepages.com/carepagers/gabrielg.