2 Ohio girls near Toledo have rare aging disorder
Sunday, August 21, 2011
TOLEDO, Ohio (AP) — Two girls in the Toledo area have been diagnosed with a rare genetic disorder that a research foundation says affects about one in 4 million to 8 million newborns.
A 14-month-old girl and an 8-year-old girl in suburban Toledo suffer from the disorder known as progeria, which causes rapid aging and early death from heart disease, The Blade (http://bit.ly/rgcX59 ) reported.
Eighteen American children have been diagnosed with the disorder, but no others in Ohio are known to have it, according to the Boston-based Progeria Research Foundation.
The likelihood of having two children with progeria living in western Lucas County would have been slim, according to the foundation and others involved in researching the disorder.
"It's quite unusual, but it is probably fully coincidental that it happened that way," said Michael Erdos, a National Institutes of Health senior staff scientist working on progeria.
The disorder affecting Carly Kudzia of Whitehouse and 8-year-old Kaylee Halko of nearby Monclova Township results in a life expectancy of only about 13 years, the newspaper reported.
Carly's parents, Heather and Ryan Kudzia, only started questioning their daughter's health last fall.
"We were just concerned about the veins in her forehead," Ryan Kudzia said.
She now has several pronounced veins on her head and thinning hair, conditions that are common to the disorder. Growth failure is another characteristic, and Carly is below the normal weight range for her age, Heather Kudzia said.
The Kudzias give Carly a growth hormone shot every night. They also are working with a dietitian and giving their daughter nutritional supplements.
"We're trying to do all of the things we think we can do," Heather Kudzia said.
They are supporting the research foundation's efforts to find a cure and fund an upcoming $3 million clinical drug trial for 80 children with progeria in 30 countries, including their daughter and Kaylee Halko. The trial — free for participating families — is expected to start within a few months and will include an anti-aging drug, the foundation said.
The Kudzias already have raised nearly $45,000 toward their goal of collecting $100,000 this year for the foundation.
"Hope is just contagious — there's just a lot of people who can see that we're so hopeful," Heather Kudzia said. "I feel like this is the precipice, and this is going to make a big change."
Marla Halko, Kaylee's mother, has lived with her daughter's diagnosis much longer but also is hopeful. She believes a cure will be found in Kaylee's lifetime. Her daughter is characteristically small but healthy, she told The Blade.
"When Kaylee was diagnosed, there was no trial, there was no nothing," Halko said.
There has been progress since then.
The progeria gene was discovered in 2003, the first clinical drug trial with one medication began in 2007 and a second trial combining three drugs is wrapping up, said Audrey Gordon, the foundation's executive director. Treatment guidelines and a parental guidebook also have been developed.
Though only 80 have been identified, an estimated 200 to 250 children worldwide have progeria, Gordon said. The foundation is working to find more children with the disorder and has a cell and tissue bank to supply materials to researchers.
Information from: The Blade, http://www.toledoblade.com/