Family attacks two sons' rare genetic disorder
By JULIE CHURCH
© St. Petersburg Times, published May 13, 2001
PALM HARBOR -- Robert and Evan Helenihi are active little boys, prone to jumping on furniture, racing up and down the stairs of their two-story home and screaming.
It's enough to make a parent crazy. But to their mom, Kelly, it's a miracle.
"Where other moms see their boys jumping on the couch and scream "get down from there,' I say "Woohoo! They can run, they can jump,"' she said.
Robert, 8, and Evan, 6, were born with the gene for adrenoleukodystrophy (ALD), a genetic disorder that strikes one in every 75,000 boys.
The disease, which was profiled in the 1992 movie Lorenzo's Oil, starring Susan Sarandon and Nick Nolte, damages the fatty covering of the nerve fibers in the brain.
Onset of the childhood form of ALD occurs between the ages of 4 and 12. Boys may suffer from behavioral changes, slurred speech, vision and hearing loss and loss of coordination. It progresses rapidly and is always fatal without treatment or surgery.
There is also an adult onset form of the disease. It is not as serious as childhood onset ALD.
Kelly and Joe Helenihi had their boys tested for the disease in 1994 after her cousin died from ALD at 13. To their dismay, both the boys carried the gene, which is passed from mother to son.
"It was horrible," Mrs. Helenihi, 34, said. "I had always been so healthy, and this was so different than everything I expected."
"This just came out of nowhere," said Mr. Helenihi, 35. "It really shook us up."
Because the boys lack an enzyme necessary to break down saturated fat, they were immediately placed on a low-fat diet that they follow to this day.
When other children are munching on peanut butter and jelly sandwiches and cookies at lunch, Robert and Evan eat soy cheese sandwiches and lots of fruits and vegetables.
Each day their diet is supplemented with two tablespoons of Lorenzo's Oil, a mixture of oleic acid, which is found in olive oil and erucic acid, which is found in rapeseed oil. The oil has been found to delay the symptoms of ALD in boys who take it before developing symptoms.
Every year the family travels to Baltimore, where the boys are evaluated by doctors at the Kennedy-Krieger Institute for Neurogenetics at Johns Hopkins University. They are part of a study on the benefits of Lorenzo's Oil on ALD sufferers.
"Significant advances have been made in recent years," said Dr. Gerald Raymond, director of clinical studies in ALD at the Kennedy-Krieger Institute. "We have learned quite a bit about the disease."
Neither boy showed signs of ALD until last year. But last December, Robert's annual MRI showed some significant changes in his brain that concerned his doctors. They recommended a bone marrow transplant to keep the disease from progressing further.
"They appear so normal," Mrs. Helenihi said. "To look at him you would never know anything is wrong."
"We decided it was time to circle the wagons again," Mr. Helenihi said.
In April, the family visited the Fairview University Medical Center at the University of Minnesota in Minneapolis, which has performed more than 200 bone marrow transplants. It was determined that Robert would be a good candidate for a transplant and that it would offer him the best possible hope of combating ALD.
"The doctors tell us that there is a 52 percent chance of the transplant being successful," Mrs. Helenihi said.
A bone marrow donor who is a match has been found through a donor bank, and the Helenihis anticipate leaving for Minnesota in the next few weeks.
"We will be up there at least 100 days," Mr. Helenihi said.
Following the surgery, Robert will need to be isolated from other children, so he will be home-schooled next year.
Although his health insurance covers Robert's medical expenses, Mr. Helenihi will take a family medical leave from his computer technician's job with Avaya Inc. and will not be paid for the time the family is in Minnesota with Robert. They are setting up a trust fund to help offset the family's loss of income.
They have also, with the help of their friends Laura and Christian Marks, developed a Web site -- www.ALDboys.org -- where people can learn about Robert and Evan and their disease.
While they are waiting for the transplant, the Helenihis try to maintain a normal upbringing for the boys.
"But we don't delay gratification," Mrs. Helenihi said. "Because none of us know what will happen next."
They recently had the opportunity to travel to Hawaii to visit Mr. Helenihi's family. The family's name, Helenihi, means "to go quietly" in Hawaiian. The entire trip was paid by the Make a Wish Foundation.
On their way to Minnesota next month, the family hopes to visit the Grand Canyon and Yellowstone National Park.
Mrs. Helenihi credits her faith with getting her through the tough times. The family worships at Curlew Baptist Church.
"Lord willing, they'll grow up and be functioning adults," she said. "We literally have thousands of people praying for them."
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