Pursuing Progeria: Worldwide Effort to Find Children with Rare Condition

PHOTO Ory Barnett suffered from progeria, an extremely rare and fatal disease characterized by what resembles premature aging in children.PlayCourtesy Heather Barnett
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December 13 marks a sad anniversary for Heather Barnett. Her son Ory died that day in 2006 after he suffered a heart attack during a minor surgical procedure.

"He loved Legos, Star Wars and cartoons, like other kids."

Ory was only 10 years old when he died, and by that age, Heather said he had already been through a number of health crises, including a stroke in 2005 as well as seizures and a series of mini-strokes.

Ory suffered from progeria, an extremely rare and fatal disease characterized by what resembles premature aging in children.

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They look normal when they're born, but by age 1 or 2, children wih progeria start to lose their hair, fail to gain weight and start to become progressively more aged in appearance. They also tend to develop brittle bones.

Children with progeria generally don't survive past age 13.

"By age 10 or 12, there are signs of heart disease and hardening of the arteries," said Dr. W. Ted Brown, director of the New York State Institute for Basic Research, who has been studying progeria for the past 30 years.

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The Progeria Research Foundation says that the disease strikes only about 1 in every 4 to 8 million newborns around the world.

Right now, there is no treatment for progeria and only as recently as 2003 has a gene mutation been identified as the cause. Because the disease is so rare and very little else is known about it, the Progeria Research Foundation recently launched a campaign called "Find the Other 150." The campaign's goal is to find the other 150 progeria children around the world that scientists believe exist so they can have access to care, participate in clinical trials and get support from other families of children with the disease.

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Scientists arrived at the estimate of 150 based on the incidence of progeria and the overall world's population.

"If the incidence is really 1 in every 4 to 8 million, it comes out to be about 150 more," said Audrey Gordon, president of the Progeria Research Foundation.

So far, 67 children around that world have been identified and diagnosed, including 16 in the United States. The Progeria Research Foundation said that 13 of those children were identified as a result of the campaign.

"It's been more successful than we ever imagined," said Gordon.

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Gordon said that so far, one of the campaign's biggest challenges has been raising awareness in certain parts of the world, including eastern Europe and Asia.

"There are gaps in these areas, because the levels of communication are less," she said.

"Many health care systems don't have a centralized way of referring children with disabilities." said Brown.

Gordon said that the foundation has received e-mails from people who think they know a child with progeria, and the foundation follows up by getting photos and medical records. If they think a child may have the disease and needs testing, the foundation gets blood samples tested.

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Heather Barnett believes the campaign is a great idea.

"If parents have a child with progeria and don't realize what it is, it can cause a lot of stress because you don't really know why your child is sick," she said. "It will benefit a lot of families and open up a support system for them.

The news that Ory had progeria was devastating, but once she knew, she said she was able to help him live a normal life.

Brown said that identifying other children with progeria will have other benefits as well.

"They can participate in trials for new drugs, and there might be hope for their treatment."

There is currently a clinical trial underway, and another ended this past December. Data from that trial are under analysis.

Gordon said the campaign will continue until every child in the world with progeria is identified and diagnosed.

"Once you have a cure, what good is it to the child you don't know about?" she said.