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Girl with Rare Genetic Condition Travels for Stem Cell Treatment

By Mike Heine, Gazette Extra, February 23, 2007

More than 60 million stem cells will soon be injected into a little girl afflicted with an uncommon genetic condition. In less than a week, she will fly to China accompanied by her mother, aunt, and cousin.

Suffering from Glucose Transporter Deficiency, the nine-year-old Brooke is unable to function like a typical child and suffers from cerebral palsy like symptoms. She cannot stand for longer than seven minutes without holding on to something, and her brain abnormalities limit her speech as well. The condition is caused by a genetic mutation of the gene that processes glucose from food and transforms it into fuel for her body.

The illness is better known as GLUT-1, and Brooke is the 83rd person in the world to be diagnosed. She will however, be the first person in to ever be treated with stem cells in an effort to reverse her condition.

The stem cell injections are not available in the United States and they may never be. The procedure is completely safe according to the Chinese research center and hospital.

Brooke's parents, Ed and Vicki, say that they would travel to the end of the Earth to help their child. For them, any risk, if it even exists, is negligible.

"Brooke is very blessed to have them as parents," aunt Cindy said. "I believe God knew what he was doing when he hooked them up.

"Things happen for a reason, and Brooke came to them because she needs extra care. She landed in the lap of parents who will go halfway around the world for her."

Brooke could perhaps manage the severity of the symptoms with a low-carbohydrate, high-fat diet according to her neurologist at the Children's Hospital of Wisconsin. Her doctor is not entirely sure if Brooke even needs the procedure, considering GLUT-1 is a nonfatal disease says Vicki.

"In my eyes, if it can help her, we're going to do all we can," Vicki said. "That's what it pretty much boils down to."

The research done in China in regards to umbilical cord blood stem cells has reassured Brooke's family. Only three patients out of 100 that were treated for cerebral palsy at the clinic in China did not see positive results. That translates to a 97% rate of effectiveness for the particular treatment. Kirshner, who is a registered nurse working as a link between China and American patients said that no patients have experienced any kind of negative consequence due to the stem cell injections.

"There is no risk to the child. The treatment itself is extremely safe," Kirshner said. "Umbilical cord stem cells have been used in this manner well over 20 years.

"I would never ask any mother to put their child through this process if I thought there was a possibility that it would harm this child in any way."

GLUT-1 was first diagnosed in 1991 by Dr. Darryl. Since the injections are not approved for use in the United States at this time, he did not want to say if he was for or against the treatment.

"It's not something that he could say, 'This is something you might want to do,'" Vicki said. "He also didn't say, 'I think you're crazy; this is a pipe dream; don't do it.' It wasn't one way or another."

The family doesn't need any additional persuasion. They trust the stem cells will help, and the plane tickets that have already been purchased are an indication of their belief. Within three to six months following the treatment, they hope Brooke exhibits signs of progress with her motor skills. But the also remain guarded and know it won't be a miracle cure for GLUT-1.

"I'm going to be watching Brooke and every move she makes like she's under a microscope," Vicki said. "We're hoping to see some improvements and cognitive change."

As for others who have children suffering from brain abnormalities, the family hopes that Brooke's improvements will not go unnoticed for them.

"Just getting the word out that this might be a possibility, to share with other families a success story would be incredible to me," Vicki said. "It could be a success story for them, and they could see their child develop in ways that they might not see otherwise."


 

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