PEABODY — Not everyone knows what the term “progeria” means, or the struggles it can cause young people and their families.
However, participating in the Progeria Research Foundation’s biannual Night of Wonder on April 9 can help shed more light on, and bring support to, this uncommon disease.
“Progeria is an ultra-rare, pediatric rapid-aging disease,” said Eleanor Maillie, spokesperson for the Progeria Research Foundation located in Peabody. “Without treatment, the children with progeria die of heart disease, usually in their teens.
“Children with progeria are born looking normal, but during their first year they start to lose their hair, and they start to have growth failure, and at times they also develop a heart disease,” Maillie continued.
The average life expectancy for children with progeria, without treatment, is 14.5 years.
“The treatment can extend their life span by an average of at least 2.5 years,” said Maillie. “And it also helps to strengthen their cardiovascular system, so it makes their hearts and bones stronger.”
In some cases, the treatment helps to extend the life span for those affected by more than 10 years.
“We do have someone who is currently 26, so we do have people living into their early to mid-20s.”
Discovering new cases worldwide not only helps kids, but it also provides progeria researchers with the necessary data that helps establish the causes of progeria and the ways it can be treated.
“Our mission at the Progeria Research Foundation is to find the cause, treatments, and care for the children with progeria worldwide,” said Maillie.
And the foundation succeeded in finding the root cause of the disease.
“We did find a cause back in 2003, when a gene was discovered for progeria,” said Maillie. “And now we have three primary areas of focus — that’s to fund the research needed to advance drug discoveries, to connect families so that everyone has a kind of one-stop shop and a place to connect, and to get information on progeria,” she said.
The foundation also conducts clinical drug trials to test those discoveries.
“We try to find the children throughout the world,” said Maillie. “We are always looking to find more children so that we can connect them with the unique help that they need.”
At the moment, the foundation estimates that one in 18 million children is diagnosed with progeria.
“We are only aware of 132 children right now with progeria worldwide ― and that’s throughout 50 countries,” said Maillie.
She said that the idea is not only to find as many children as possible to help to connect them to the life-saving treatment, but to also try to identify as many as possible to understand “as much about progeria as we can.”
The foundation also helps to connect the laboratories conducting progeria research, and the pharmaceutical companies that develop the treatments.
“We have a cell-and-tissue-bank program,” said Maillie. “And we have over 300 participants who consented for this program, just to donate cell and tissue towards further research.”
The treatment for progeria has been discovered just recently by the laboratory of Francis S. Collins, M.D., Ph. D., the former director of the National Institutes of Health (NIH). The Progeria Research Foundation worked in partnership with NIH.
“The life-saving treatment just received an FDA approval in November 2020,” said Maillie.
The Progeria Research Foundation was founded in 1998 by Dr. Leslie Gordon and Dr. Scott Berns. At that time, they found out that their 22-month-old son had been diagnosed with progeria, then commonly known as a “premature aging syndrome.”
Lack of medical information and resources on the disease inspired the family, together with their friends and colleagues, to launch the Progeria Research Foundation. Now, it is the only nonprofit in the world dedicated to progeria research
The good thing is that the family doesn’t have to bear all the cost burden on their own, said Maillie. And that is one of the reasons why the Progeria Research Foundation holds its biannual Night of Wonder Gala to celebrate its donors, researchers, and volunteers.
“PRF’s Night of Wonder Gala and Auction typically brings in over $500,000 each year that we host it (biannually),” said Maillie. “This year, we’re expecting to net over $500,000 again.
“We host a live auction with a ton of existing components to it, including Patriots’ Premium Club seats for a group of five, trips to Loon Mountain, Tuscany, or a month in Key West, and more,” said Maillie. “There is also dancing and live music, and a lot of great food.”
The event is going to fund the research on progeria, and it will take place at the Renaissance Boston Waterfront Hotel on April 9. For more information visit: https://www.progeriaresearch.org/now2022/.
