Kin seek to shed light on rare disease

By Christine McConville / The Pulse
Tuesday, February 22, 2015

Meet Bobby Allen.

In so many ways, he's a typical 8-year-old boy. He likes gym, loves skiing and dreams of having a loyal pet dog to call his own.

But each morning for breakfast, instead of brand-name cereal or home-cooked waffles, he drinks a canola oil cocktail with a side of calcium.

Bobby has glucose transporter deficiency syndrome, or Glut1 DS, a very rare disease that prohibits glucose from getting to the brain.

And because glucose is the main source of fuel for the brain, Glut1 DS sufferers have seizures - unless they follow a strict high-fat, no-carb ketogenic diet - and suffer mental and physical disabilities.

Bobby's parents said their family is one of the lucky ones.

"We found out early, and Bobby's doing great," said dad Chris Allen, "but there are a lot of kids out there who haven't been diagnosed, and their brains aren't getting the fuel they need to work properly."

Bobby, who lives in Cohasset, was born Jan. 1, 2002, the second of Michele and Chris Allen's three children.

At eight weeks, he had a seizure and stopped breathing.

At Children's Hospital in Boston, a neurologist suspected the baby could be suffering from GLUT1 DS, a disease he had just heard about, and a blood test and spinal tap proved him right: Bobby's glucose level was normal in his blood, but reduced in his spinal fluid.

According to Dr. Darryl DeVivo, a New York pediatric neurologist who discovered the disease in 1989, Bobby was only the 60th person to be diagnosed.

Today, there are 300.

And DeVivo believes that population is "the tip of the iceberg. There must be 3,000 or 30,000 people who have this disease, but don't know it."

At this time, there's no GLUT1 screening test for newborns, and the only known treatment is the diet.

The Allens are hoping Bobby might be able to change that.

He's this year's Rare Disease Day poster child, and on Monday the family will be at the State House for an event designed to highlight the 30 million Americans who suffer from rare diseases.

Unlike the much more high-profile breast cancer or Lou Gehrig's disease, these diseases receive much less attention, and much less money for research.

Sometimes, it's up to families of patients.

Michele Allen teamed up with a friend to establish the GLUT1 charity Milestones for Children, which raises money to support research.

"What's so tragic," she said, "is that there are kids out there, living with this, and not knowing it."

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