Campaign underway for Glut1 DS cure

Eight-year-old Bobby Allen is one of about 300 in the world diagnosed with GLUT1, a neurological disorder. An early diagnosis and treatment gave Bobby the best opportunity to deal with GLUT1. With proper funding, researchers could be very close to a cure for the disease.

By Nancy White/
Wicked Local Cohasset
Posted Feb 18, 2011 @ 08:15 AM

Cohasset - This month a lot of people with a little money are joining together to make a big difference. Until the end of February, Cohasset-based charity Milestones for Children is spreading the work about its cause and its goal - a cure for a rare disease called Glut1 DS, a brain energy metabolic disorder.

In partnership with Rare Disease Day, February 28, Milestones for Children founders, Shelly Allen and Muffy Antico, initiated a 21-day campaign asking people to donate $21. Allen's son, Bobby, 8, lives with Glut1 DS.

According to researchers who have been studying the disease, a cure for Glut1 DS (glucose transporter deficiency syndrome) is within reach. A potential cure is ready to begin human trials, if funding is in place.

"We want to raise as much money as we can for research and we want to get the word out far and wide about Glut1 DS," Allen said.

The viral campaign, which is using Facebook, Twitter, e-mail and YouTube to spread like a wildfire, is off to a successful start.

In its first 10 days of the campaign the associated video has received over 1500 viewers on YouTube (see link to the right). People from all over the US have signed on to see the video; visitors have also come from the UK and Australia. About one in four of those visitors are opening their wallets to donate to the cause.

"The video is very upbeat and hopeful. This campaign is really about spreading awareness about Glut1 DS," Antico said. While roughly 300 children and adults have been diagnosed with the disease experts believes there are many more out there going undiagnosed, and therefore suffering needlessly.

"Through this campaign if we are able to find one child who has been misdiagnosed then it will be worth it," Antico said.

Because of the rarity of the disease, many doctors aren't even aware of its existence and as a result it has taken many families years to discover the true cause of their child's seizures and lack of development, both symptoms of Glut1 DS.

A diagnosis of Glut1 DS means your cells are not picking up and transporting glucose to the brain properly. Glucose is the principal source of fuel to the brain and without it the brain does not have what it needs to develop and grow. The only known treatment at this time is an extremely restrictive high fat diet.

A delayed diagnosis and treatment can lead to myriad physical and mental disabilities, ranging from mild to so severe that they cannot walk or talk.

One mother's story toward her son's Glut1 DS diagnosis stretched over nine plus years and included more than 10,000 seizures, 25 EEGS and 10 MRIs. Her son underwent two CTs, two spinal taps, took nine-plus different drugs, was hospitalized countless times, visited five states, eight hospitals and 25 neurologists.

Bobby Allen, a second grader at Osgood, was diagnosed with Glut1 DS at 11 weeks old. His early diagnosis and intervention has given him the best possible outcome with the disease. Except for his diet, he is like every other boy his age.

"His story is a story of hope and a positive story," said Antico. Because of the hope inherent in his story - and his photogenic face - he is pictures on the main website of Rare Disease Day (

The research for a Glut1 DS cure is still making breakthroughs and could potentially begin human trials if funding was in place.

"The research done so far in the laboratory has shown there is a cure - and that's not true for a lot of diseases out there. That fact alone makes this a great moment in time for Glut1 DS," Allen said. A cure would likely involve a drug therapy program. "With the proper funding the doctors can continue to have meaningful breakthroughs."

Both Antico and Allen have benefited from the support of friends with particular skills and the community at large to make the Milestones for Children 21-day campaign a success.

For them, working together and building an understanding that although rare diseases are rare, no one ever has to be along.

"It doesn't take a whole lot of money from each person if we all join together," Antico said.

To find out more information about Milestones for Children, visit

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