Toledo (The Blade), October 15, 2018 – Eight years ago Carly Kudzia of Swanton was diagnosed with a rare genetic condition known as progeria, which is characterized by accelerated aging in children.

The condition is so rare that about 150 people throughout the world have progeria, according to the Progeria Research Foundation. In the U.S., fewer than 20 people have the genetic condition — Carly, as well as Kaylee Halko, 15, of Monclova Township, included. One in 20 million have the condition.

While there is not a cure for progeria, the Toledo-based 501C3 nonprofit organization Carly Cares has supported families and research of rare diseases since 2013. 

“Our mission statement is to support families who are fighting rare diseases as well as the researchers working for the cure,” said Heather Unsinger, Carly’s mother.

The organization will host its eighth annual Carly’s Party For The Cure fund-raising benefit that will start at 7 p.m. Friday at The Pinnacle, 1772 Indian Wood Circle in Maumee. Tickets can be purchased at www.carlytickets.com. The money raised will be used for research of rare diseases and support for families.

Carly Kudzia, 8, does what most other kids her age do. She is a third-grade student at Lial Catholic School in Whitehouse. She’s involved in two different dance classes and the Girl Scouts. Yet, standing at 37 inches tall and weighing 27 pounds, she has to deal with the effects of progeria every day.

“She’s a very bright girl,” Ms. Unsinger said. “She’s very active, funny, and smart.”

The rare, fatal genetic conditioned, also known as Hutchinson-Gilford Progeria Syndrome, is characterized by an accelerated aging in children and is caused by a mutation in the gene LMNA, which produces the Lamin A protein that is the structural scaffolding that holds the nucleus of a cell together. The mutation in the gene causes the nucleus to become unstable and leads to premature aging.

The average lifespan of those with progeria is 14.6 years. Noticeable signs of accelerated aging typically appear during the child’s first two years of life, including growth issues, loss of hair and body fat, aged-looking skin, stiffness of joints, and hip dislocation. Cardiovascular disease and stroke is common between the ages of 10 and 14.

Dr. Ateeq Haseeb, a pediatric neurologist at Mercy Health St. Vincent Medical Center, said intellectual function and cognitive development are normal for children with progeria. He said children with progeria need to have regular check-ups with their cardiologist, dentist, and otolaryngolost because of how quickly their bodies age.

While two children live in the Toledo area with the genetic condition, Dr. Haseeb said it’s a coincidence. The disease isn’t hereditary, either.

“This is a spontaneous mutation,” Dr. Haseeb said.

While the Progeria Research Foundation has been raising awareness in the U.S. since 1999, the organization is still trying to educate people in other countries.

Meryl Fink, executive director and president of the Progeria Research Foundation, said the foundation is able to find about five to seven new children each year with progeria, as well as a number who pass away from the condition. She said there are an estimated 350-400 people throughout the world who could have progeria, which the organization has based on the world’s population and the statistic of one in 20 million who have progeria.

Ms. Fink said it’s more difficult to find people in other countries who have the rare condition, one factor being cultural differences.

“If you had something wrong with you, your doctor will refer you to a specialist and in this country we assume they’ll get to the bottom of it. That’s because one of those doctors along the way will likely have heard of progeria. That’s not true the world over,” Ms. Fink said. “Children around the world who have cultural differences who are born with issues, their culture doesn’t embrace that and they may be shunned or the parents may not be encouraged to seek help or information. There are parts of this world where it is so remote they may not be able to get to the doctor that has the knowledge.”

Ms. Unsinger, Carly’s mother, said the Carly Cares nonprofit donates funds to the Progeria Research Foundation every year, such as a medical grant for research studies.

“We want this money from northwest Ohio and southeast Michigan to go directly to this grant we believe in. We want to fund it,” she said. “We’ve got the research grants we funded to date and they are all a variation of research that we need to take us to the next step in the fight against progeria.”

In 2015, Carly Cares funded travel for 12 families living with progeria to attend the first U.S. progeria reunion to connect with others for four days; in 2016 the organization funded a $100,000 grant with the Progeria Research Foundation for a team in Brazil investigating the neuropeptide Y system as a strategy for the therapeutics of progeria; and in 2017 Carly Cares partnered with the Progeria Research Foundation to co-fund a medical research grant for an Austria-based doctor to investigate how protein damages blood vessels and how it affects heart function.

“When Carly was first diagnosed at 10 months I was hell-bent on helping everyone find a cure by age 3 … like, ‘We’re going to find a cure, let’s do it!’ Now she is 8 and knowing the life expectancy is different with kids with progeria your mindset changes a little,” Ms. Unsinger said. “Clearly we’re still doing things to find a cure, but there are a lot of gaps that need support in the meantime like for right now. I don’t have a cure, what can we do for them today?”

Today, Ms. Unsinger is hopeful to eventually help find a cure.

“I do think it’s close, but I couldn’t tell you if close is five years or two years or 10 years; I really hope it’s two,” she said.

The benefit will include a performance by Toledo Top 40 cover band Noisy Neighbors, as well as a silent auction, raffle baskets, 50/50 raffle, and food served.

Local girl fights rare condition that speeds aging