CITY OF TONAWANDA N.Y. — It's a syndrome that affects an estimated one in 10,000 children.
Cornelia de Lange Syndrome, or CdLS, causes a range of physical and cognitive challenges. We bring you the story of Aubrey Garigen, a young girl with the syndrome, and how her parents are trying to better understand it.
“We knew there was something going on with her while my wife was pregnant," said Aubrey's father, Nic Garigen. "Through the ultrasound you could see little things that they weren’t completely positive of her limb difference but they knew it just wasn’t 100%. It’s like 1 in 10,000 to 30,000 and Aubrey’s 1 of 2 in Western New York.”
“Kiddos with her syndrome typically have a lot of the same characteristics: arched eyebrows, long eyelashes, little nose, small mouth, sometimes lower set ears, and their birth weight is always pretty small,” said Nicole Garigen, Aubrey's mother.
“[Aubrey's] just going to be a little bit delayed but mostly because of her limb difference and all that but she’s always going to be short, that’s a big thing with CdLS," said Nic. "There’s a biennial conference for her syndrome which basically meets tons and tons of families, a ton of doctors, a lot more information than we can get around here.”
“When we heard that they were doing the conference in Orlando next year we thought well hey, let’s get down there and meet up with a lot of these families that we’ve met through social media,” said Nicole.
“There’s a lot of stuff that we’ve asked questions with other parents and stuff like that to get a little bit of help through there,” said Nic.
“It’ll benefit us to go down there to, you know, get all the latest updates and where they are in research with CdLS and to get any advice from the therapists that will be down there, the other physicians," said Nicole. "We’ll be able to talk with behavioral doctors, GI doctors, genetics, everything.”
“We’ve figured it’s about $5,000 with airfare, the hotel stay and then the fee. [Aubrey’s] free but we have to pay the fee to get into the conference," said Nic. “We just recently started putting up the all the money and how it was going to go about how much it would cost and we realized that we were going to need some help.”
“If you educate yourself and you just keep open ears and, you know, don’t put yourself in a closet," said Nicole. "It’s not the end of the world.”
“We were so worried during the whole pregnancy too that there was going to be something wrong with her so really we weren’t upset or worried at all," said Nic. "We were ready to handle whatever came at us. We’re just happy to have her.”
The CdLS bienniel Conference will be held in Orlando from June 23-26 next year.
If you would like to help the Garigen family attend the conference, you can visit the family's Facebook Page, or their fundraising page.