Dylan's Front Page article from the Lakeland Ledger. August 15th 2001 HOLDING ON TO HOPE
BOY'S INCURABLE DISEASE LEAVES FAMILY UNWILLING TO GIVE UP
Hands stuffed in his pockets, sunglasses covering his bright blue eyes, Dylan Freeman is a miniature "Mr. Cool." His language is a little garbled, but that doesn't seem incurmountable at age 4. His feet drag when he walks, enough that he needs ankle braces, but the handicap isn't instantly apparent as Dylan chatters about toys and his favorite foods. Because he's bright and verbal, and his limited mobility could stem from many causes. It's taken his parents until this year to get a diagnosis explaining what's wrong. Now that they have one-a leukodystrophy called Alexander Disease-they find themselves wishing his pediatrician had been right when he suspected a mild form of cerebral palsy. "I wish I didn't know since there's no cure and no treatment," his mother, Kathy, said. His father, Sam, agreed, in part, but he added, "The only thing is, knowing what it is, if there becomes a cure, we'll know what to do." Inside Dylan's brain, the material that's supposed to shield neurons isn't holding together the way it should, and fibrous deposits call Rosenthal fibers are forming, his parents learned. Like other leukodystrophies that affect formation of myelin sheath covering nerve fibers, the condition will get worse as he gets older, according to the United Leukodystrophy Fountation in Sycamore, Ill. "The leukodystrophies are such a personally poignant story that one just becomes obsessed, if you will, about trying to find a diagnosis and treatment," said Dr. Hugo Moser of the Kennedy Krieger Institute in Baltimore. "They're such a dreadful thing for the family," he said. "They often have a child who appears perfectly normal but who goes downhill rapidly." Moser, who specializes in diseases of the nervous system, is chairman of the foundation's medical-scientific advisory board. The best-known leukodystrophy is adrenoleukodystrophy, which came to the public's attention in the 1992 movie "Lorenzo's Oil." Gene defects for 14 leukodystrophies and have been identified, the foundation said. The one for Alexander disease was pinpointed within the past year, along with a test to find the defective gene, Moser said. Dylan, who was born in Brandon but lives in Lakeland, took a long time learning to walk. Once he did, at about 18 months, he wobbled and kept losing his balanace past age 2. His parents took Dylan in January to Dr. Herminio Cuervo, a Lakeland neurologist, who ordered a magnetic resonance imaging scan. He and the readiologist who interpreted the MRI results said it looked like Alexander disease, his parents said. Cuervo said the condition was rare enough that, although he studied it at Harvard, he'd never seen a case of it, Sam Freeman said. On Cuervo's advice, they got a second opinio, choosing a neurologist affiliated with All Children's Hospital in St. Petersburg. Between appointments, they heard about the research at Kennedy Krieger in Baltimore and send Dylan's MRI results to a doctor there, who suggested the blood test. The test isn't available on a routine basis, said Troy Becker, genetic counselor at All Children's Hospital. Blood of children thought to have Alexander disease must be sent to special labs. Dylan's blood, drawn locally, was tested in Washington D.C. By having a DNA test, a positive diagnosis can be made, Kennedy Krieger's Moser said. Genetic counseling becomes available. Different treatments can be tested in animals. Effective treatments, even cures, exist for some leukodystrophies. Eliminating milk products from the diet helps Refsum disease, while a bile acid found in geese works with cerebrotendinous xanthomatosis if caught early enough, Moser said as examples. Bone-marrow transplants have helped some other forms of leukodystrophy if caught early enough, Moser said. No proven treatments exist fo Alexander disease, Sam Freeman and his mother-in-law, Carol Valiquette of Lakeland, were told at a recent conference sponsored by the foundation. Moser confirmed that, but said the situation could change with trials of different treatments in animals now that the defective gene has been identified. Unless a cure is found, however, the outlook isn't promising. Children with leukodystrophies can become neurologically disabled and unable to move, Moser said. Those who devolop Alexander disease in infancy usually don't survive past age 6, according to the foundation. Dylan's parents don't want to think that could happen to him. They said he is doing better with physical therapy and speech therapy he's been getting this year. In July, he started attending the Child Development Center in Lakeland. Lack of a cure, however, is what lead them to publisize his condition. They hope to encourage donations to the non-profit foundation and to find other parents who's children have Alexander disease. About 100 cases have been identified, Moser said with the test increasing that number. "New cases are rolling in every day," Freeman said. "Were thinking its not so rare. Maybe the outcomes (deaths) they have seen are rare."
TO LEARN MORE: The United Leukodystrophy Foundation can be reached at (800)728-5483