The Blade/Lisa BernheimHeather Kudzia holds her daughter, Carly, 14 months, who has progeria. With them are twins Garret, left, and Grant, 12, and the children's father, Ryan Kudzia.
It's an extremely rare genetic disorder -- one in which parents are forced to watch their children age quickly -- and now a second little girl in the Toledo area has been diagnosed with progeria.
Carly Kudzia, a 14-month-old who lives in Whitehouse, joins 8-year-old Kaylee Halko of nearby Monclova Township as having the disorder.
And their parents all are working to find a cure.
Within a month of getting confirmation that their youngest child has the disorder that causes rapid aging and early death from heart disease, Heather and Ryan Kudzia went into action.
They quickly joined the Progeria Research Foundation's efforts to find a cure and fund an upcoming $3 million clinical drug trial for 65 children with progeria , including their daughter and Kaylee, in 30 counties. The trial that is free for participating families is expected to start within a few months, and it will build on two prior trials and include an anti-aging drug.
The foundation kicked off an annual fund-raising campaign in May, and the Kudzias raised $44,596 as part of their personal goal of collecting at least $100,000 for this year. After telling close relatives about Carly's diagnosis, the Kudzias turned to other family and friends with a request to consider making donations for research at the foundation.
"It's almost at $45,000 just from, 'Hey, can you help?'" said Mrs. Kudzia, who, like the Halkos, has other fund-raisers in the works. Donation cans in local stores have raised $1,500 alone.
"Hope is just contagious -- there's just a lot of people who can see that we're so hopeful," Mrs. Kudzia added. "I feel like this is the precipice, and this is going to make a big change."
A number of local fund-raisers for the Progeria Research Foundation are planned in coming weeks, including:
A $10-a-ticket raffle at the Swanton Corn Festival on Saturday for the ‘Carly's Cart' golf cart. To get tickets, go to teamcarlyq.com, a Web site for Carly Kudzia.
Proceeds from a children's train ride and carnival games at the Maumee Summer Fair on Saturday will be given to the foundation.
The Team Carly-Q Benefit featuring AlterEgo is scheduled for 7 p.m. Sept. 30 at Zeke's Event Hall in Holland. Tickets are $25, and can be purchased at teamcarlyq.com
The 6th annual Kaylee's Course, a race and fun walk, is scheduled for 10 a.m. Oct. 8 at Monclova Primary School. Registration is $12 before Oct. 1 and $15 after. To register, go to firstgiving.com/prf/kayleescourse
About one in 4 million to 8 million newborns has progeria, and their average life expectancy is 13 years, according to the foundation, which two doctors founded in 1999 after learning their child had the disorder.
Eighteen American children have been given a diagnosis of progeria, and the likelihood of having two living in western Lucas County is rare, experts said.
"It's quite unusual, bit it is probably fully coincidental that it happened that way," said Michael Erdos, a National Institutes of Health senior staff scientist working on progeria.
NIH researchers recently have discovered a link between progeria and aging, making research relevant both to the disorder and the normal aging process, Mr. Erdos said. In normal aging, short or dysfunctional telo- meres -- which protect the ends of DNA within cells -- stimulate cells to produce progerin, a protein associated with age-related cell damage that also causes progeria.
The fourth drug to be added to what Mrs. Kudzia referred to as the progeria "special sauce" has been shown to decrease the amount of progerin by 50 percent and extend the lifespan of progeria cells.
Marla Halko, Kaylee's mother, said she believes a cure for progeria will be found in the lifetime of her daughter, who will be entering second grade and is characteristically small but is healthy. So many advances have already been made in a short time, she said.
"When Kaylee was diagnosed, there was no trial, there was no nothing," Mrs. Halko said. "She's 8 now, and they've come this far."
In the dozen years since the nonprofit foundation was founded, the progeria gene was discovered in 2003, the first clinical drug trial with one medication began in 2007, a second trial with a combination of three drugs is wrapping up, and treatment guidelines and a parental guidebook have been developed, said Audrey Gordon, the foundation's executive director.
An estimated 200 to 250 children worldwide have progeria, and so far 80 have been identified, including siblings in Belgium, even though the condition is not normally passed down in families, Ms. Gordon said. The foundation is working to find more children with progeria and has had a 48 percent increase in known cases in the last 18 months. It also has a progeria cell and tissue bank to supply materials to researchers, she said.
All of this also gives hope to the Kudzias, who, because of Kaylee, were aware of progeria before learning their daughter has the disorder. They have received support from the Halkos, whom they met about a month ago, and a family in Flat Rock, Mich., with a child who has progeria, they said.
The Kudzias, whose 12-year-old twin sons, Grant and Garrett, are loving and helpful older brothers, started questioning Carly's health last fall.
"We were just concerned about the veins in her forehead," Mr. Kudzia recalled.
Carly now has several pronounced veins on her head and her hair is thinning, common conditions among progeria children, but she is bubbly and on the verge of walking. Growth failure is another characteristic of progeria, and although Carly is within the normal height range for her age, she is below for weight, Mrs. Kudzia said.
With the approval of the foundation, the Kudzias have been giving Carly a growth hormone shot every night since June 2, which they admit is as much of an ordeal for them as for her. They wait until she has been asleep awhile before using a small needle with the growth hormone in a different part of her body.
She does not yet have teeth, which makes getting the youngster to eat and gain weight even harder, Mrs. Kudzia said. They are working with a dietitian and are giving Carly nutritional supplements, she said.
"We're trying to do all of the things we think we can do," Mrs. Kudzia said.
Contact Julie M. McKinnon at: firstname.lastname@example.org or 419-724-6087.
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