Second case of Progeria in Toledo area

August 2, 2011 9:00:00 PM PDT
A childhood disease so rare it affects one in 8 million children. Tonight: staggering news that we now have not one, but two cases of Progeria in the Toledo area. 13abc's Susan Ross Wells has followed the story of Kaylee Halko of Monclova for years. Now we meet another little girl who will surely share a special bond with Kaylee in the years to come. The odds are unbelievable. With only 18 cases in the U.S. and 80 known cases in the entire world, that 80th case is a Whitehouse one-year-old who lives not quite a stone's throw from Monclova's Kaylee Halko.

Her parents describe Carly as a little dynamo who loves playing with twin older brothers Grant and Garrett. But, when Carly was about 6-months-old, Heather and Ryan Kudzia had some concerns. Ryan recalled what he and his wife noticed.

"Really the veins in her forehead were kinda bothering me and I think they were bothering her {Heather} also."

Their pediatrician Dr. R.W. Mills, who's featured regularly on 13abc's "What's Going Around" segments, also had his concerns and started ordering tests on Carly.

"I just got this sense that maybe this was Progeria and started doing a little looking into that," says Dr. Mills. He says he attempted to pursue a Progeria test, but was told at six months it was too early to diagnose.

Ryan remembers what it was like not knowing what was wrong with their daughter.

"Tested for everything under the sun and everything came back negative, and then they said they were gonna test for one more thing and if it not that then, they don't know."

That "one more thing" was Progeria, the accelerated aging disease caused by a gene mutation that ages children up to 10 times faster than normal. The Kudzias went to the website for the Progeria Research Foundation, or PRF, which has pictures of many of the children living with Progeria.

"As soon as I pulled up the pictures we both knew? we knew immediately," says Heather. Testing confirmed on April 21st, Carly Kudzia has Progeria.

Dr. Mills: "That's a very tricky situation because you're saying okay, I've got a diagnosis and yet it's not the diagnosis that you want to hear."

Carly's Progeria diagnosis is the most recent in the entire world, and she happens to live about eight miles from Kaylee Halko, whose story 13abc has covered for years. In fact, Carly's older brothers go to school with Kaylee's older brothers at Anthony Wayne Schools.

We asked the Executive Director and President of the Progeria Research Foundation about the stunning realization that we have another Progeria case just one town away from Kaylee Halko.

"Having two children with Progeria living so close together geographically is entirely complete coincidence. It's nothing more than that," says Audrey Gordon.

The families have been in touch through Facebook, e-mail and phone calls, and recently got together fo the first time

"It went really well, says Heather. "Her brothers are great, they got along great with our boys and Marla's awesome and Kaylee is just, a rock star. She's hilarious. She's outspoken and funny and smart and a little bit of a daredevil. "

Two cases so close together will help Carly. The same specialists who are involved in Kaylee's care will now follow Carly, and our community already has an awareness of Progeria.

Carly is getting extra calories every day, and already taking growth hormone. The Kudzias say they're trying to stay positive and do what they can to help their little girl.

"We're definitely both on a mission, says Ryan, "PRF's been a lifesaver for us. They're just so close to fining a cure, and we're just trying to be positive... which we are... we're hoping, ya know, that they're gonna find a cure soon. "

In fact, excitement is buzzing about a new drug called Rapamycin that shows promise for treating Progeria kids.

Audrey Gordon from the Progeria Research Foundation says lab studies have shown the drug prolongs life in mice. But that's just the beginning.

"And then, when the researchers took it and applied it to Progeria cells, it improved them and the disease causing progerin. It reduced it by 50 percent."

Gordon says progerin is a protein that's in every cell of the bodies of children with Progeria, at very high levels, but, we all have progerin in our bodies in tiny amounts, that increase as we age, so this research could have much broader implications.

"So the idea is if progerin can be reduced in children with Progeria and extend their life,"says Gordon, "perhaps it can do the same for the normal aging population."

The Kudzias plan to participate in the next drug trial, but launching that trial is expected to cost PRF around two million dollars. They say PRF needs a champion, and hope Toledo area businesses that do charitable giving will consider Progeria research.

"Can we get a little10 percent sliver of that to PRF because they're doing so much with so little and I just feel like even just a fraction could make all the difference."

The family is raffling of a customized golf card, "Carly's Cart," for ten dollars a ticket with all the money going to PRF. They say life has been a whirlwind in recent weeks, and they're just trying to take it one day at a time.

"She's happy," says Heather. "She's happy so, I mean, we know what could be tomorrow or the day after, but today she's happy and she's healthy and she feels good and so, to both of us there's really no choice, you've just gotta be positive and do what you've gotta do, and we'll get it done. "

More info on upcoming fundraiser for Carly and the Progeria Research Foundation:

"Carly's Cart" Golf Cart Raffle:
Tickets will be sold at the Corn Festival in Swanton on August 20th, or you can click "contact us" on www.teamcarlyq.com to send Carly's family an email. Drawing is being held Saturday August, 20 at Corn Festival.

Carly's Party [Benefit for Progeria]:
Sept. 30 - Tickets are $25 each and include music by AlterEgo, appetizers, and one entry in the door prize drawing. There will also be silent auction - great products and services donated by numerous local companies. Tickets will be sold on www.teamcarlyq.com as well as Luce Chimney Sweep in Swanton and The Whitehouse Inn in Whitehouse.

Kaylee's Course/Race for Progeria:
Saturday, October 8 in Monclova. Register online at http://www.firstgiving.com/prf/kayleescourse

Kaylee will be the grand marshal of the parade at the Maumee Festival on August 20. There will be train rides for $3 and the Elks parking lot will be a kids game area, with all money going to Progeria Research Foundation. Train rides start after the parade until 3 pm.

You can also catch up with Kaylee on Facebook at Sweet Kaylee.

Additional links:
- www.progeriaresearch.org

- www.teamcarlyq.com or to go directly to the team's donation page for PRF's ONE Possible

- Campaign: http://bit.ly/lpgLgI


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