PHOTOS

Watertown teen undergoes surgery to combat rare genetic brain disease

By REBECCA MADDEN
TIMES STAFF WRITER FRIDAY, JANUARY 22, 2010

COLLEEN WHITE / WATERTOWN DAILY TIMES

ARTICLE OPTIONS A

Years of dizziness, headaches and pain puzzled Charley M. Hill, her family and doctors.

AA

The Watertown girl, 14, experienced sporadic spells for nearly three years, but it wasn't until the fall of 2009, when she was eating lunch in the Case Middle School cafeteria, that she knew something was terribly wrong. "I couldn't speak," Charley said. "My best friend, Autumn, was next to me, so I wrote words down on a piece of paper, and she got the teacher right away." Soon after that, Charley had an MRI done at Samaritan Medical Center and was sent to Upstate Medical University, Syracuse, where she had an angiogram. Those tests led to a surprising diagnosis: moyamoya disease. THE DISEASE Dr. Eric M. Deshaies, director of cerebrovasuclar, endovascular and skull-based neurosurgery for Upstate Medical, said Charley actually has been having mini-strokes since she was 11 years old. He said Charley was the first pediatric moyamoya patient Upstate Medical has diagnosed and treated in the 18 months he's been there. Moyamoya is a rare, progressive disease of the blood vessels in the brain that causes the arteries to narrow and eventually close off, ultimately leading to strokes or hemorrhages. According to the National Institute of Neurological Disorders and Stroke, since moyamoya was first described in Japan approximately 50 years ago, it also has been seen in the U.S., Europe, Australia and Africa. While about one in 300,000 people in Japan is affected, fewer than one in 2 million develop the disease in the U.S. The cause of moyamoya is unknown, although it has been confirmed to be gene-based.

Charley M. Hill, 14, in her Watertown home on Thursday, has moyamoya disease, a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain.

You may use this copy for your personal, non-commercial use only. Redistribution or repurposing without express written permission of the

"Moyamoya is Japanese for 'puffs of smoke,' and because of the appearance on the angiogram I do, it looks like little puffs of smoke developing in the brain," Dr. Deshaies said. "They're actually new vessels in the brain growing." To combat the progression of the disease, doctors can perform a form of arterial bypass, which creates new paths for new brain-feeding arteries to form. Because she had brain surgery Sept. 17, doctors say, the risk of Charley having a stroke or hemorrhage should be limited. The surgery is not, however, a cure for the disease. Charley will need another angiogram in a couple of months to determine whether the surgery was as successful as her doctors think. She shouldn't need another surgery, Dr. Deshaies said. CHARLEY'S CHANGED LIFE Dr. Zulma S. Tovar-Spinoza, director of pediatric neurosurgery at Upstate Medical, performed Charley's surgery with Dr. Deshaies. He said Charley most likely will have to have follow-up appointments every few months for the rest of her life. Life expectancy can be shorter than for the average American, Dr. Deshaies said, but that depends on how severe the disease, and how successful surgery is. The moyamoya diagnosis forever changed Charley's life, Dr. Tovar-Spinoza said, because the she should never overexert herself. She can no longer run, ride a bicycle, dance too much or participate in many other typical teenage activities. "There will always be some restriction," Dr. Deshaies said. "A lot of cardiovascular activity can steal blood away from the brain." Since the surgery, Charley's mother, Karen P. Harris, said, her daughter is not quite the same as she was before. Whether it's from medication she's on or something else, Mrs. Harris said, her daughter has experienced some memory loss, changes in eating habits and continued headaches, dizziness and numbness. "She still has a long way to go," Mrs. Harris said. Charley returned to Case Middle School on Jan. 4, but attends for only three hours a day, and is tutored at home for one hour. She's slowly getting back into a routine, and said she looks forward to socializing with friends. "I think it's better for me to be in school for half days because I can talk with people and I can get used to going back to school," she said. "Sometimes I'll be so depressed, and I have anger in me. I have a lot of anger and don't know why." GUARDIAN ANGELS Charley said she wouldn't have made it out of

Watertown Daily Times is strictly prohibited. Copyright. Watertown Daily Times, Inc., Watertown, NY. All rights reserved.

surgery and through the past few years dealing with her symptoms if it wasn't for her grandmother, Emma L. Richardson, of New York City. "My grandma means everything to me, and so do the angels she gave to me," Charley said. Mrs. Harris said her mother sent Charley two porcelain angels to watch over her during her surgery and through recovery. "Charley said to me after the surgery, 'I knew I was going to be OK because of my angels,'" Mrs. Harris said. "My mother's voice was in her head the whole time she was in surgery. I truly believe that." Charley also received the support of her entire family, including biological father Charles Hill, South Carolina, and stepfather, Curtis P. Harris, Watertown.
SHOW COMMENTS (0)