In search of treatment, a family finds possibilities in China

 

Stem cell injections unavailable in the United States

By Mike Heine/The Week

(Published Jan. 18, 2007, 5:00 p.m.)
More: In 2003, Brooke Barels underwent treatments in a hyperbaric chamber ... story

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Reporter Mike Heine details Brooke Barels' condition and upcoming treatment in China... listen

Look into her curious brown eyes and you can tell Brooke Barels has something on her mind. She just doesn't have the ability to say it.

She can mumble a word or two, point to or grab an object or say things with a smile. But the sentences aren't there.

An extremely rare condition caused by a spontaneous genetic mutation when Brooke was still a fetus is why the 9-year-old can't function like a normal child her age, and her parents and family are ready to go the extra mile-or several thousand miles-to do something about it.

On March 2, Brooke, her mom, aunt and cousin are traveling to China where Brooke will receive six stem cell injections that will hopefully minimize the effects caused by her glucose transporter deficiency syndrome. It's a newer treatment, unavailable in the United States, but the rural East Troy family will do anything to help Brooke, the 83rd person in the world diagnosed with the disease.

"She and her husband's pact to each other was 'Whatever it takes,' and they have done whatever they can," Aunt Cindy Toman said of Vicki and Ed Barels, Brooke's parents.

They need a label

Signs of Brooke's condition weren't apparent until she was about a year old.

There were obvious physical delays. Brooke was unable to sit up on her own by her first birthday, Cindy said. There was little to no speech effort by then, either. She even experienced minor seizures that included uncontrollable eye darting and vacant stares.

Brooke finally sat up at 14 months and first crawled three months after her second birthday, a time when most toddlers are walking.

By the time she was nearing 5, Brooke eventually gained the skills to walk with the aid of a walker. She still can't walk without holding on to something or someone and her record for standing up without support is seven minutes.

Rounds and rounds of tests and trying all kinds of therapies--including the use of a hyperbaric breathing chamber--saw some improvement of her motor skills, but progress was slow.

Vicki and Ed thought Brooke had some type of cerebral palsy (CP) since the symptoms were so similar.

Her doctors at Children's Hospital of Wisconsin even diagnosed her with that, but they always thought it might be something else.

"So many of the tests did show up normal," Cindy said. "At one point we were thankful. But you get to a point where you just want to put a label on it to get an avenue of action. To me, that was frustrating."

After networking with a doctor in New York, doctors here began testing for glucose transporter deficiency (GLUT-1) in early 2004, Brooke was 6. Together, Brooke's medical team made a positive diagnosis in April.

"When they were testing for it I said, 'I hope she has this,' which is strange to hope your child has a disease," Vicki said. "But there is treatment with the diet."

Beef sticks and butter

After the diagnosis, Brooke was put on the Ketogenic Diet, a high-fat, moderate-protein and low-carbohydrate diet developed originally to treat epilepsy.

The diet works by forcing the body to burn fat for energy instead of glucose.

GLUT-1 prevents Brooke from processing glucose from food she eats. The disease blocks glucose from entering her spinal chord and getting to her brain. Glucose fuels the brain and tells the body what to do. Without it, Brooke is unable to function normally.

The diet limits Brooke's food intake to 1,200 calories per day. She needs to have three times the amount of fat in her food compared to the combined amount of protein and carbohydrates. For every 10 grams of carbs and protein, she needs 30 grams of fat.

That means salads with mayonnaise for dressing, beef sticks coated with butter and a lot of ice cream. Everything has to be weighed on a gram scale.

"At first I thought, 'There's no way we can do this,'" Vicki said. "I used to make a lot of meals all at once to try and save time when it was meal time. We've grown accustomed to it. I guess we're used to it where we know it's a part of our life. It helps her so you sacrifice your time and effort."

"You don't think of 9-year-olds begging for broccoli, cauliflower or carrots, things typical children have to be force fed, but she's begging for them because it's not something she normally gets," Ed added.

There's no cheating with the diet. Introducing foods that produce too much glucose can send Brooke's progress into immediate reverse.

"Some days you just want to say, 'Have at it' and let her just have what she wants, but the next day she won't be able to sit up so it's not worth it," Vicki said.

Positive signs

Brooke has always taken strides forward since her birth, but the gains have been enormous since she started on the diet, her family says.

Barb Larson, Brooke's weekly caretaker, said she's seen great improvement since she started working with the Barels family in 2000. She has witnessed Brooke progress from a toddler hardly able to crawl or stand to a girl who can walk by holding someone's hand.

"I think there's a lot more that she understands she needs to do," Larson said. "We'll sit down to do an art project with scissors and that. She'll reach for the scissors and try to do it on her own and can eventually start to do it."

Her increase in cognitive abilities has helped her physical abilities grow tremendously, Vicki said.

"She's much more able to motor plan. She can figure out how to get from one position to another and figure out how to make those types of things happen."

Brooke has also gained endurance and her demeanor has improved greatly, Vicki said. She also understands that she doesn't need to be one-on-one with another person all the time and can initiate play by herself.

"I never see signs of plateauing where I think, 'Well, maybe this is it,'" Vicki said.

Tickets to China

Despite all the gains, a world of opportunity is out there that Brooke has only touched on. With stem cells, the Barels family hopes Brooke can experience much more of life.

Brooke will receive six injections of 10 million stem cells over a four-week period at Xiaoshan Hospital in Hangzhou, China.

The treatment, which will use stem cells from the umbilical chords of healthy newborn Chinese babies, is not available in the United States. It is not yet approved for Brooke's condition, Vicki said. The treatment does not use more controversial embryonic stem cells, which some say destroys a potential human life.

American doctors "want it to be safe, but yet it takes so long (for government approval)," she said. "But for the types of cells she's going to be getting in China, the testing, trials, they're all done. There are hundreds of patients who have been successful already."

The cells Brooke will get have the predisposition to become white brain matter cells that will likely help her gain more motor skills and physical and cognitive abilities. The injections have been used to treat other brain diseases, Vicki said.

"We're hoping the cells make up that wiring where the brain tells her body what to do," Vicki said.

There are obviously some risks with the procedures, but the odds look good and it's worth it to parents who want to try everything possible to help their daughter.

"Our mission statement has always been that we never want to look back and say we wish we would have done this or wish we would have done that," Ed said. "We will try to do everything that we can that's feasible."

"You go to the ends of the earth for your children and that's what we're doing," Vicki said. "It is definitely going to be a new experience."

The author and photographer are staff members of The Week. Heine regularly covers courts and

government. This is the second time Mayer has spent time with the Barels' photographing Brooke's treatments.

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